Materiały źródłowe

• #1 Porphyria – Wikipedia

  https://en.wikipedia.org/wiki/Porphyria

  Rates of all types of porphyria taken together have been estimated to be approximately one in 25,000 in the United States. […] The worldwide prevalence has been estimated to be between one in 500 and one in 50,000 people. […] Porphyrias have been detected in all races and in many ethnic groups on every continent. There are high incidence reports of AIP in areas of India and Scandinavia. More than 200 genetic variants of AIP are known, some of which are specific to families, although some strains have proven to be repeated mutations. […] The epidemiology of congenital porphyrias varies depending on the specific type of porphyria. […] Erythropoietic Protoporphyria (EPP) is relatively rare, with an estimated prevalence of 1 to 9 cases per 100,000 individuals worldwide. […] Congenital Erythropoietic Porphyria (CEP) is extremely rare, with fewer than 200 cases reported worldwide.

• #2 About Porphyria – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/

  The Porphyrias are rare diseases. Taken together, all forms of Porphyria afflict fewer than 200,000 people in the United States. […] The prevalence of Porphyria remains unknown, but clinicians suggest that a range of 1 per 500-50,000 of population is probable. Some forms of Porphyria are more common in specific populations including, for example, in Finland.

• #3 Porphyria – Wikipedia

  https://en.wikipedia.org/wiki/Porphyria

  Rates of all types of porphyria taken together have been estimated to be approximately one in 25,000 in the United States. […] The worldwide prevalence has been estimated to be between one in 500 and one in 50,000 people. […] Porphyrias have been detected in all races and in many ethnic groups on every continent. There are high incidence reports of AIP in areas of India and Scandinavia. More than 200 genetic variants of AIP are known, some of which are specific to families, although some strains have proven to be repeated mutations. […] The epidemiology of congenital porphyrias varies depending on the specific type of porphyria. […] Erythropoietic Protoporphyria (EPP) is relatively rare, with an estimated prevalence of 1 to 9 cases per 100,000 individuals worldwide. […] Congenital Erythropoietic Porphyria (CEP) is extremely rare, with fewer than 200 cases reported worldwide.

• #4 Porphyria – Wikipedia

  https://en.wikipedia.org/wiki/Porphyria

  Rates of all types of porphyria taken together have been estimated to be approximately one in 25,000 in the United States. […] The worldwide prevalence has been estimated to be between one in 500 and one in 50,000 people. […] Porphyrias have been detected in all races and in many ethnic groups on every continent. There are high incidence reports of AIP in areas of India and Scandinavia. More than 200 genetic variants of AIP are known, some of which are specific to families, although some strains have proven to be repeated mutations. […] The epidemiology of congenital porphyrias varies depending on the specific type of porphyria. […] Erythropoietic Protoporphyria (EPP) is relatively rare, with an estimated prevalence of 1 to 9 cases per 100,000 individuals worldwide. […] Congenital Erythropoietic Porphyria (CEP) is extremely rare, with fewer than 200 cases reported worldwide.

• #5 About Porphyria – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/

  The Porphyrias are rare diseases. Taken together, all forms of Porphyria afflict fewer than 200,000 people in the United States. […] The prevalence of Porphyria remains unknown, but clinicians suggest that a range of 1 per 500-50,000 of population is probable. Some forms of Porphyria are more common in specific populations including, for example, in Finland.

• #6 Recent advances in the epidemiology and genetics of acute intermittent porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7586877/

  Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, and particularly to the evaluation of new treatments. Variations in the prevalence and penetrance of AIP in various studies may due to the different inclusion criteria and methods of assessment. Here, the prevalence and penetrance of AIP are analyzed systematically, and the genetic traits of different populations and findings regarding the genotype-phenotype correlation are summarized. […] The status of research on AIP in China reveals the lack of epidemiological and genetic studies of the Chinese population, a situation that needs to be promptly remedied.

• #7 Porphyria Overview: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1389981-overview

  The combined prevalence of the acute porphyrias is approximately 5 cases per 100,000 persons. Porphyria cutanea tarda is the most common porphyria, with a prevalence of 1 in 10,000. The most common acute porphyria, acute intermittent porphyria, has a prevalence of approximately 1 in 20,000, and the prevalence of the most common erythropoietic porphyria, erythropoietic protoporphyria, is estimated at 1 in 50,000 to 75,000. […] The European Porphyria Network collected information prospectively on newly diagnosed symptomatic patients with an inherited porphyria from 11 countries and calculated that the annual incidence of symptomatic acute intermittent porphyria was around 0.13 case per million, except in Sweden, where it was 0.51 case per million. The prevalence of acute intermittent porphyria was estimated at 5.4 cases per million population. An estimated 3%-5% of individuals with acute intermittent porphyria experience recurrent attacks (more than 4 per year).

• #8 Porphyrias: Symptoms and Treatment | Doctor

  https://patient.info/doctor/porphyrias

  The most common porphyria (PCT) has a prevalence of 1 in 10,000 people. […] The most common acute porphyria (AIP) has a prevalence of about 1 in 20,000 people. […] The most common erythropoietic porphyria (EPP) affects between 1 in 50,000 to 75,000 people. […] CEP is extremely rare, with prevalence estimates of 1 in 1,000,000 or less. […] Only six cases of delta-aminolevulinic acid dehydratase deficiency porphyria are documented. […] Porphyria can appear in childhood, as seen in EPP, but the onset is usually between the ages of 20 and 40 and it affects women more than men.

• #9 Porphyria | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/816140/all/Porphyria?q=A+Hepatitis

  PCT: prevalence 1/5,000 to 1/25,000 (1) […] AIP: prevalence 1/75,000 (1,2) […] EPP: prevalence 1/75,000 to 1/200,000 (1) […] VP: prevalence 1/50,000 (1) […] CEP: rare, ~150 cases reported (1) […] XLP: prevalence 1/700,000 (3,4) […] HCP: rare, 50 cases reported (1) […] ADP: rare, 10 cases reported (1)

• #10 Porphyria Cutanea Tarda (PCT) | International Porphyria Network

  https://new.porphyrianet.org/en/content/porphyria-cutanea-tarda-pct-0

  Porphyria cutanea tarda (PCT) is the commonest porphyria worldwide, affecting between 1:5,000 to 1:70,000 of the population, depending on geographical location. […] PCT affects both men and women, with a slight male preponderance in Northern Europe and the United States but affects predominantly males in southern Europe due to increased exposure to risk factors. […] Hepatitis C is an important predisposing factor for PCT in many European countries. […] PCT in patients with hepatitis C may resolve on treatment with direct acting antiviral (DAA) drugs.

• #11 Porphyria Overview: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1389981-overview

  The combined prevalence of the acute porphyrias is approximately 5 cases per 100,000 persons. Porphyria cutanea tarda is the most common porphyria, with a prevalence of 1 in 10,000. The most common acute porphyria, acute intermittent porphyria, has a prevalence of approximately 1 in 20,000, and the prevalence of the most common erythropoietic porphyria, erythropoietic protoporphyria, is estimated at 1 in 50,000 to 75,000. […] The European Porphyria Network collected information prospectively on newly diagnosed symptomatic patients with an inherited porphyria from 11 countries and calculated that the annual incidence of symptomatic acute intermittent porphyria was around 0.13 case per million, except in Sweden, where it was 0.51 case per million. The prevalence of acute intermittent porphyria was estimated at 5.4 cases per million population. An estimated 3%-5% of individuals with acute intermittent porphyria experience recurrent attacks (more than 4 per year).

• #12 Porphyrias: Symptoms and Treatment | Doctor

  https://patient.info/doctor/porphyrias

  The most common porphyria (PCT) has a prevalence of 1 in 10,000 people. […] The most common acute porphyria (AIP) has a prevalence of about 1 in 20,000 people. […] The most common erythropoietic porphyria (EPP) affects between 1 in 50,000 to 75,000 people. […] CEP is extremely rare, with prevalence estimates of 1 in 1,000,000 or less. […] Only six cases of delta-aminolevulinic acid dehydratase deficiency porphyria are documented. […] Porphyria can appear in childhood, as seen in EPP, but the onset is usually between the ages of 20 and 40 and it affects women more than men.

• #13 Porphyria Overview: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1389981-overview

  The combined prevalence of the acute porphyrias is approximately 5 cases per 100,000 persons. Porphyria cutanea tarda is the most common porphyria, with a prevalence of 1 in 10,000. The most common acute porphyria, acute intermittent porphyria, has a prevalence of approximately 1 in 20,000, and the prevalence of the most common erythropoietic porphyria, erythropoietic protoporphyria, is estimated at 1 in 50,000 to 75,000. […] The European Porphyria Network collected information prospectively on newly diagnosed symptomatic patients with an inherited porphyria from 11 countries and calculated that the annual incidence of symptomatic acute intermittent porphyria was around 0.13 case per million, except in Sweden, where it was 0.51 case per million. The prevalence of acute intermittent porphyria was estimated at 5.4 cases per million population. An estimated 3%-5% of individuals with acute intermittent porphyria experience recurrent attacks (more than 4 per year).

• #14 Recent advances in the epidemiology and genetics of acute intermittent porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7586877/

  AIP is an autosomal dominant metabolic disorder with a variable prevalence among different countries. Because it is a rare disease with multiple phenotypes, its prevalence is difficult to evaluate. Therefore, information about the prevalence of AIP is most often based on estimates. Variations in the prevalence and penetrance of AIP in various studies are probably due to different inclusion criteria and methods of assessment. […] The prevalence, penetrance, and genetic traits of Chinese patients with AIP are still unclear and need to be fully evaluated. […] Much of the information on AIP comes from a 3-year prospective study of newly diagnosed symptomatic patients with AIP in 11 European countries, and the annual incidence of symptomatic AIP was reported to be 0.13 per million. Its prevalence, which was calculated based on the incidence and mean disease duration, was 5.9 per million in Europe. […] This finding strongly suggests that other factors act as a catalyst for AIP attacks, such as modifying genes and environmental factors.

• #15 The porphyrias | International Porphyria Network

  https://new.porphyrianet.org/en/content/porphyrias

  The porphyrias are a group of eight disorders of the heme biosynthesis pathway that present with acute neurovisceral symptoms, photosensitising skin lesions or both. […] Accurate diagnosis of clinically overt (symptomatic) porphyria requires identification of the unique pattern of overproduction of heme precursors that results from each enzyme deficiency. […] The majority (an estimated 80% within families) of those who inherit an autosomal dominant porphyria remain asymptomatic throughout life but which individuals will fall into this category cannot be predicted. […] The prevalence in most European countries is 1-2 per 100,000 inhabitants; most of these have AIP. […] The main exception is Sweden where the prevalence of AIP is high (1 per 1500 people in northern Sweden) due to a founder effect.

• #16 Acute Intermittent Porphyria | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27443

  Estimates of the combined prevalence of acute porphyrias are 5 cases per 10000 persons. […] AIP, the most common acute porphyria, has an overall European prevalence of approximately 1 in 2000, with a higher incidence of 1 in 1000 in Sweden due to the founder effect. […] Acute intermittent porphyria is a low-penetrant genetic metabolic disease with penetrance considered to be around 10% to 20%. […] Excepting specific AIP populations, the penetrance of AIP in the general population has been estimated to be less than 1%. […] Acute intermittent porphyria affects women to a greater degree than men, with a ratio of between 1.5 and 2 to 1. […] The typical age for the appearance of symptoms is between 18 to 40 years.

• #17 Porphyria | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/816140/all/Porphyria?q=A+Hepatitis

  PCT: prevalence 1/5,000 to 1/25,000 (1) […] AIP: prevalence 1/75,000 (1,2) […] EPP: prevalence 1/75,000 to 1/200,000 (1) […] VP: prevalence 1/50,000 (1) […] CEP: rare, ~150 cases reported (1) […] XLP: prevalence 1/700,000 (3,4) […] HCP: rare, 50 cases reported (1) […] ADP: rare, 10 cases reported (1)

• #18 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Variegate-Porphyria.aspx

  Variegate Porphyria has been found throughout the world, and according to some reports, it affects more women than males. […] In the general population of the European population, the incidence is estimated to be 1 in 100,000. […] Due to a founder effect, the illness affects people of Dutch heritage the most frequently in South Africa. […] In South Africa, the prevalence of variegate porphyria among Caucasians is estimated to be 1 to 3 per 1,000 people.

• #19 Acute Porphyria: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/957604-overview

  Race […] Certain ethnic groups are predisposed to porphyrias. Individuals of Swedish and Finnish descent have a high prevalence of AIP. Prevalence of VP is particularly high among South Africans of Danish descent. […] Sex […] The increased prevalence of acute porphyrias in women probably reflects the significant exacerbation by female sex hormones. […] Age […] Most patients with acute porphyria present after puberty, but the disease can occur in childhood. In female patients, acute porphyria is particularly evident after puberty, but its severity and overall prevalence after menopause. Patients with VP may present later in life than those with AIP.

• #20 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Variegate-Porphyria.aspx

  Variegate Porphyria has been found throughout the world, and according to some reports, it affects more women than males. […] In the general population of the European population, the incidence is estimated to be 1 in 100,000. […] Due to a founder effect, the illness affects people of Dutch heritage the most frequently in South Africa. […] In South Africa, the prevalence of variegate porphyria among Caucasians is estimated to be 1 to 3 per 1,000 people.

• #21 Porphyria | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/816140/all/Porphyria?q=A+Hepatitis

  PCT: prevalence 1/5,000 to 1/25,000 (1) […] AIP: prevalence 1/75,000 (1,2) […] EPP: prevalence 1/75,000 to 1/200,000 (1) […] VP: prevalence 1/50,000 (1) […] CEP: rare, ~150 cases reported (1) […] XLP: prevalence 1/700,000 (3,4) […] HCP: rare, 50 cases reported (1) […] ADP: rare, 10 cases reported (1)

• #22 The porphyrias | International Porphyria Network

  https://new.porphyrianet.org/en/content/porphyrias

  VP is about one-third as prevalent as AIP in most European countries; but is more common in South Africa where it affects about 10,000 individuals of Dutch (Afrikaner) descent due to a founder effect. […] HCP is the least common of the autosomal dominant acute porphyrias. […] PCT, the commonest porphyria, is a cutaneous porphyria (fragile skin, bullae, hypertrichosis, changes in pigmentation) which may be acquired (Type I, 80%) or inherited (Type II, 20%) as an autosomal dominant trait with low penetrance. […] Most patients have underlying liver cell damage with iron overload and there are strong associations with alcohol, hepatitis C and mutations in the haemochromatosis (HFE) gene. […] CEP is a very rare autosomal recessive condition. […] EPP is an autosomal recessive disorder in which most patients inherit a low expression FECH allele that is present in about 10% of the general population in-trans to a pathogenic null FECH variant.

• #23 SciELO Brazil – Acute hepatic porphyrias for the neurologist: current concepts and perspectives Acute hepatic porphyrias for the neurologist: current concepts and perspectives

  https://www.scielo.br/j/anp/a/zbNWs5c54XLWRkfG38SrfLf/

  Acute hepatic porphyrias (AHPs) represent a complex group of inborn errors of metabolism that cause acute episodic neurovisceral attacks and include four life-threatening disorders acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and delta- or 5-aminolevulinic acid (ALA) dehydratase deficiency (or Doss porphyria) (ALADP). […] AHPs have a global and pan-ethnic distribution and affect all age groups, with higher prevalence rates among young women. AIP represents the most common form of AHP, with an estimated prevalence of 5 cases per 100,000 inhabitants in the United States (US). VP is the second (up to 1:30,000 inhabitants) and HCP the third (2:1,000,000 inhabitants in Denmark) most common form AHP. Higher prevalence rates of VP have been identified in the Afrikaner population of Dutch descent in South Africa and Finland and associated with a founder effect. ALADP is an extremely rare presentation, with little more than a dozen cases identified.

• #24 Porphyrias: Symptoms and Treatment | Doctor

  https://patient.info/doctor/porphyrias

  The most common porphyria (PCT) has a prevalence of 1 in 10,000 people. […] The most common acute porphyria (AIP) has a prevalence of about 1 in 20,000 people. […] The most common erythropoietic porphyria (EPP) affects between 1 in 50,000 to 75,000 people. […] CEP is extremely rare, with prevalence estimates of 1 in 1,000,000 or less. […] Only six cases of delta-aminolevulinic acid dehydratase deficiency porphyria are documented. […] Porphyria can appear in childhood, as seen in EPP, but the onset is usually between the ages of 20 and 40 and it affects women more than men.

• #25 Porphyria | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/816140/all/Porphyria?q=A+Hepatitis

  PCT: prevalence 1/5,000 to 1/25,000 (1) […] AIP: prevalence 1/75,000 (1,2) […] EPP: prevalence 1/75,000 to 1/200,000 (1) […] VP: prevalence 1/50,000 (1) […] CEP: rare, ~150 cases reported (1) […] XLP: prevalence 1/700,000 (3,4) […] HCP: rare, 50 cases reported (1) […] ADP: rare, 10 cases reported (1)

• #26 Porphyria – Wikipedia

  https://en.wikipedia.org/wiki/Porphyria

  Rates of all types of porphyria taken together have been estimated to be approximately one in 25,000 in the United States. […] The worldwide prevalence has been estimated to be between one in 500 and one in 50,000 people. […] Porphyrias have been detected in all races and in many ethnic groups on every continent. There are high incidence reports of AIP in areas of India and Scandinavia. More than 200 genetic variants of AIP are known, some of which are specific to families, although some strains have proven to be repeated mutations. […] The epidemiology of congenital porphyrias varies depending on the specific type of porphyria. […] Erythropoietic Protoporphyria (EPP) is relatively rare, with an estimated prevalence of 1 to 9 cases per 100,000 individuals worldwide. […] Congenital Erythropoietic Porphyria (CEP) is extremely rare, with fewer than 200 cases reported worldwide.

• #27 Porphyria – Wikipedia

  https://en.wikipedia.org/wiki/Porphyria

  Rates of all types of porphyria taken together have been estimated to be approximately one in 25,000 in the United States. […] The worldwide prevalence has been estimated to be between one in 500 and one in 50,000 people. […] Porphyrias have been detected in all races and in many ethnic groups on every continent. There are high incidence reports of AIP in areas of India and Scandinavia. More than 200 genetic variants of AIP are known, some of which are specific to families, although some strains have proven to be repeated mutations. […] The epidemiology of congenital porphyrias varies depending on the specific type of porphyria. […] Erythropoietic Protoporphyria (EPP) is relatively rare, with an estimated prevalence of 1 to 9 cases per 100,000 individuals worldwide. […] Congenital Erythropoietic Porphyria (CEP) is extremely rare, with fewer than 200 cases reported worldwide.

• #28 Porphyrias: Symptoms and Treatment | Doctor

  https://patient.info/doctor/porphyrias

  The most common porphyria (PCT) has a prevalence of 1 in 10,000 people. […] The most common acute porphyria (AIP) has a prevalence of about 1 in 20,000 people. […] The most common erythropoietic porphyria (EPP) affects between 1 in 50,000 to 75,000 people. […] CEP is extremely rare, with prevalence estimates of 1 in 1,000,000 or less. […] Only six cases of delta-aminolevulinic acid dehydratase deficiency porphyria are documented. […] Porphyria can appear in childhood, as seen in EPP, but the onset is usually between the ages of 20 and 40 and it affects women more than men.

• #29 Porphyrias: Symptoms and Treatment | Doctor

  https://patient.info/doctor/porphyrias

  The most common porphyria (PCT) has a prevalence of 1 in 10,000 people. […] The most common acute porphyria (AIP) has a prevalence of about 1 in 20,000 people. […] The most common erythropoietic porphyria (EPP) affects between 1 in 50,000 to 75,000 people. […] CEP is extremely rare, with prevalence estimates of 1 in 1,000,000 or less. […] Only six cases of delta-aminolevulinic acid dehydratase deficiency porphyria are documented. […] Porphyria can appear in childhood, as seen in EPP, but the onset is usually between the ages of 20 and 40 and it affects women more than men.

• #30 Porphyria | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/816140/all/Porphyria?q=A+Hepatitis

  PCT: prevalence 1/5,000 to 1/25,000 (1) […] AIP: prevalence 1/75,000 (1,2) […] EPP: prevalence 1/75,000 to 1/200,000 (1) […] VP: prevalence 1/50,000 (1) […] CEP: rare, ~150 cases reported (1) […] XLP: prevalence 1/700,000 (3,4) […] HCP: rare, 50 cases reported (1) […] ADP: rare, 10 cases reported (1)

• #31 Porphyrias: Symptoms and Treatment | Doctor

  https://patient.info/doctor/porphyrias

  The most common porphyria (PCT) has a prevalence of 1 in 10,000 people. […] The most common acute porphyria (AIP) has a prevalence of about 1 in 20,000 people. […] The most common erythropoietic porphyria (EPP) affects between 1 in 50,000 to 75,000 people. […] CEP is extremely rare, with prevalence estimates of 1 in 1,000,000 or less. […] Only six cases of delta-aminolevulinic acid dehydratase deficiency porphyria are documented. […] Porphyria can appear in childhood, as seen in EPP, but the onset is usually between the ages of 20 and 40 and it affects women more than men.

• #32 Porphyria – Wikipedia

  https://en.wikipedia.org/wiki/Porphyria

  Rates of all types of porphyria taken together have been estimated to be approximately one in 25,000 in the United States. […] The worldwide prevalence has been estimated to be between one in 500 and one in 50,000 people. […] Porphyrias have been detected in all races and in many ethnic groups on every continent. There are high incidence reports of AIP in areas of India and Scandinavia. More than 200 genetic variants of AIP are known, some of which are specific to families, although some strains have proven to be repeated mutations. […] The epidemiology of congenital porphyrias varies depending on the specific type of porphyria. […] Erythropoietic Protoporphyria (EPP) is relatively rare, with an estimated prevalence of 1 to 9 cases per 100,000 individuals worldwide. […] Congenital Erythropoietic Porphyria (CEP) is extremely rare, with fewer than 200 cases reported worldwide.

• #33 Acute Porphyria – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537352/

  Epidemiology […] The autosomal dominant acute porphyrias affect males and females equally. Acute porphyria presents in all ethnic and racial groups worldwide. Due to the founder effect, certain populations have an unusually high prevalence of porphyrias. Examples of these are the Afrikaner (original settlers from the Netherlands) population in South Africa, who have a high incidence of variegate porphyria (VP), and northern Scandinavian populations with increased numbers of acute intermittent porphyria (AIP). The prevalence of AIP has been estimated to be 5-10 cases per 100,000. The prevalence of acute porphyrias is higher in women, and that reflects the significant exacerbation of their sex hormones. Most patients present after puberty, but the disease manifestation can occur in childhood.

• #34 Acute Porphyria – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537352/

  Epidemiology […] The autosomal dominant acute porphyrias affect males and females equally. Acute porphyria presents in all ethnic and racial groups worldwide. Due to the founder effect, certain populations have an unusually high prevalence of porphyrias. Examples of these are the Afrikaner (original settlers from the Netherlands) population in South Africa, who have a high incidence of variegate porphyria (VP), and northern Scandinavian populations with increased numbers of acute intermittent porphyria (AIP). The prevalence of AIP has been estimated to be 5-10 cases per 100,000. The prevalence of acute porphyrias is higher in women, and that reflects the significant exacerbation of their sex hormones. Most patients present after puberty, but the disease manifestation can occur in childhood.

• #35 The porphyrias | International Porphyria Network

  https://new.porphyrianet.org/en/content/porphyrias

  VP is about one-third as prevalent as AIP in most European countries; but is more common in South Africa where it affects about 10,000 individuals of Dutch (Afrikaner) descent due to a founder effect. […] HCP is the least common of the autosomal dominant acute porphyrias. […] PCT, the commonest porphyria, is a cutaneous porphyria (fragile skin, bullae, hypertrichosis, changes in pigmentation) which may be acquired (Type I, 80%) or inherited (Type II, 20%) as an autosomal dominant trait with low penetrance. […] Most patients have underlying liver cell damage with iron overload and there are strong associations with alcohol, hepatitis C and mutations in the haemochromatosis (HFE) gene. […] CEP is a very rare autosomal recessive condition. […] EPP is an autosomal recessive disorder in which most patients inherit a low expression FECH allele that is present in about 10% of the general population in-trans to a pathogenic null FECH variant.

• #36 Acute Porphyria – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537352/

  Epidemiology […] The autosomal dominant acute porphyrias affect males and females equally. Acute porphyria presents in all ethnic and racial groups worldwide. Due to the founder effect, certain populations have an unusually high prevalence of porphyrias. Examples of these are the Afrikaner (original settlers from the Netherlands) population in South Africa, who have a high incidence of variegate porphyria (VP), and northern Scandinavian populations with increased numbers of acute intermittent porphyria (AIP). The prevalence of AIP has been estimated to be 5-10 cases per 100,000. The prevalence of acute porphyrias is higher in women, and that reflects the significant exacerbation of their sex hormones. Most patients present after puberty, but the disease manifestation can occur in childhood.

• #37 The porphyrias | International Porphyria Network

  https://new.porphyrianet.org/en/content/porphyrias

  The porphyrias are a group of eight disorders of the heme biosynthesis pathway that present with acute neurovisceral symptoms, photosensitising skin lesions or both. […] Accurate diagnosis of clinically overt (symptomatic) porphyria requires identification of the unique pattern of overproduction of heme precursors that results from each enzyme deficiency. […] The majority (an estimated 80% within families) of those who inherit an autosomal dominant porphyria remain asymptomatic throughout life but which individuals will fall into this category cannot be predicted. […] The prevalence in most European countries is 1-2 per 100,000 inhabitants; most of these have AIP. […] The main exception is Sweden where the prevalence of AIP is high (1 per 1500 people in northern Sweden) due to a founder effect.

• #38 About Porphyria – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/

  The Porphyrias are rare diseases. Taken together, all forms of Porphyria afflict fewer than 200,000 people in the United States. […] The prevalence of Porphyria remains unknown, but clinicians suggest that a range of 1 per 500-50,000 of population is probable. Some forms of Porphyria are more common in specific populations including, for example, in Finland.

• #39 Porphyria – Wikipedia

  https://en.wikipedia.org/wiki/Porphyria

  Rates of all types of porphyria taken together have been estimated to be approximately one in 25,000 in the United States. […] The worldwide prevalence has been estimated to be between one in 500 and one in 50,000 people. […] Porphyrias have been detected in all races and in many ethnic groups on every continent. There are high incidence reports of AIP in areas of India and Scandinavia. More than 200 genetic variants of AIP are known, some of which are specific to families, although some strains have proven to be repeated mutations. […] The epidemiology of congenital porphyrias varies depending on the specific type of porphyria. […] Erythropoietic Protoporphyria (EPP) is relatively rare, with an estimated prevalence of 1 to 9 cases per 100,000 individuals worldwide. […] Congenital Erythropoietic Porphyria (CEP) is extremely rare, with fewer than 200 cases reported worldwide.

• #40 Acute Porphyria: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/957604-overview

  Epidemiology […] The absence of a porphyria registry in the United States impedes accurate calculation of disease frequency. Incidence of the acute porphyrias varies with type. The highly variable phenotypic expression results in a highly variable penetrance. Most individuals with the genetic defects are asymptomatic. Therefore, underdiagnosis and variable penetrance contribute to the lack of knowledge about the incidence of acute porphyria. […] The frequency of the genetic defects that cause porphyria is unknown. Surveillance studies aimed at symptomatic families may bias genetic defect prevalence. Incidences listed in Table 3 below mitigate surveillance bias. Studies in Finnish and Russian populations indicate that the risk of developing symptoms may be proportional to the specific mutation in AIP.

• #41 Acute Porphyria – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537352/

  Epidemiology […] The autosomal dominant acute porphyrias affect males and females equally. Acute porphyria presents in all ethnic and racial groups worldwide. Due to the founder effect, certain populations have an unusually high prevalence of porphyrias. Examples of these are the Afrikaner (original settlers from the Netherlands) population in South Africa, who have a high incidence of variegate porphyria (VP), and northern Scandinavian populations with increased numbers of acute intermittent porphyria (AIP). The prevalence of AIP has been estimated to be 5-10 cases per 100,000. The prevalence of acute porphyrias is higher in women, and that reflects the significant exacerbation of their sex hormones. Most patients present after puberty, but the disease manifestation can occur in childhood.

• #42 Porphyria epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Porphyria_epidemiology_and_demographics

  The acute attack is 5 times more common in females.

• #43 Orphanet: Acute intermittent porphyria

  https://www.orpha.net/en/disease/detail/79276

  A form of acute hepatic porphyria characterized by the occurrence of neurovisceral attacks without cutaneous symptoms. […] This is the most frequent and severe form of acute hepatic porphyria. Its prevalence in Europe is about 1/75,000. The disease generally manifests after puberty, predominantly affecting women (80% of cases). […] Transmission is autosomal dominant, with very low penetrance. Genetic counselling is recommended to patients and their families to identify individuals at risk of developing or transmitting the disease. […] Annual monitoring is proposed to detect these chronic complications.

• #44 Acute Porphyria – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537352/

  Epidemiology […] The autosomal dominant acute porphyrias affect males and females equally. Acute porphyria presents in all ethnic and racial groups worldwide. Due to the founder effect, certain populations have an unusually high prevalence of porphyrias. Examples of these are the Afrikaner (original settlers from the Netherlands) population in South Africa, who have a high incidence of variegate porphyria (VP), and northern Scandinavian populations with increased numbers of acute intermittent porphyria (AIP). The prevalence of AIP has been estimated to be 5-10 cases per 100,000. The prevalence of acute porphyrias is higher in women, and that reflects the significant exacerbation of their sex hormones. Most patients present after puberty, but the disease manifestation can occur in childhood.

• #45 Acute Porphyria: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/957604-overview

  Race […] Certain ethnic groups are predisposed to porphyrias. Individuals of Swedish and Finnish descent have a high prevalence of AIP. Prevalence of VP is particularly high among South Africans of Danish descent. […] Sex […] The increased prevalence of acute porphyrias in women probably reflects the significant exacerbation by female sex hormones. […] Age […] Most patients with acute porphyria present after puberty, but the disease can occur in childhood. In female patients, acute porphyria is particularly evident after puberty, but its severity and overall prevalence after menopause. Patients with VP may present later in life than those with AIP.

• #46 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Variegate-Porphyria.aspx

  Variegate Porphyria has been found throughout the world, and according to some reports, it affects more women than males. […] In the general population of the European population, the incidence is estimated to be 1 in 100,000. […] Due to a founder effect, the illness affects people of Dutch heritage the most frequently in South Africa. […] In South Africa, the prevalence of variegate porphyria among Caucasians is estimated to be 1 to 3 per 1,000 people.

• #47 Acute Porphyria – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537352/

  Epidemiology […] The autosomal dominant acute porphyrias affect males and females equally. Acute porphyria presents in all ethnic and racial groups worldwide. Due to the founder effect, certain populations have an unusually high prevalence of porphyrias. Examples of these are the Afrikaner (original settlers from the Netherlands) population in South Africa, who have a high incidence of variegate porphyria (VP), and northern Scandinavian populations with increased numbers of acute intermittent porphyria (AIP). The prevalence of AIP has been estimated to be 5-10 cases per 100,000. The prevalence of acute porphyrias is higher in women, and that reflects the significant exacerbation of their sex hormones. Most patients present after puberty, but the disease manifestation can occur in childhood.

• #48 Acute Porphyria: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/957604-overview

  Race […] Certain ethnic groups are predisposed to porphyrias. Individuals of Swedish and Finnish descent have a high prevalence of AIP. Prevalence of VP is particularly high among South Africans of Danish descent. […] Sex […] The increased prevalence of acute porphyrias in women probably reflects the significant exacerbation by female sex hormones. […] Age […] Most patients with acute porphyria present after puberty, but the disease can occur in childhood. In female patients, acute porphyria is particularly evident after puberty, but its severity and overall prevalence after menopause. Patients with VP may present later in life than those with AIP.

• #49 Acute Intermittent Porphyria | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27443

  Estimates of the combined prevalence of acute porphyrias are 5 cases per 10000 persons. […] AIP, the most common acute porphyria, has an overall European prevalence of approximately 1 in 2000, with a higher incidence of 1 in 1000 in Sweden due to the founder effect. […] Acute intermittent porphyria is a low-penetrant genetic metabolic disease with penetrance considered to be around 10% to 20%. […] Excepting specific AIP populations, the penetrance of AIP in the general population has been estimated to be less than 1%. […] Acute intermittent porphyria affects women to a greater degree than men, with a ratio of between 1.5 and 2 to 1. […] The typical age for the appearance of symptoms is between 18 to 40 years.

• #50

  https://step2.medbullets.com/dermatology/120091/porphyria-cutanea-tarda

  Most common form of porphyria […] Middle-aged men and women […] Younger women on oral contraceptives.

• #51 The porphyrias | International Porphyria Network

  https://new.porphyrianet.org/en/content/porphyrias

  The porphyrias are a group of eight disorders of the heme biosynthesis pathway that present with acute neurovisceral symptoms, photosensitising skin lesions or both. […] Accurate diagnosis of clinically overt (symptomatic) porphyria requires identification of the unique pattern of overproduction of heme precursors that results from each enzyme deficiency. […] The majority (an estimated 80% within families) of those who inherit an autosomal dominant porphyria remain asymptomatic throughout life but which individuals will fall into this category cannot be predicted. […] The prevalence in most European countries is 1-2 per 100,000 inhabitants; most of these have AIP. […] The main exception is Sweden where the prevalence of AIP is high (1 per 1500 people in northern Sweden) due to a founder effect.

• #52 Acute Intermittent Porphyria | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27443

  Estimates of the combined prevalence of acute porphyrias are 5 cases per 10000 persons. […] AIP, the most common acute porphyria, has an overall European prevalence of approximately 1 in 2000, with a higher incidence of 1 in 1000 in Sweden due to the founder effect. […] Acute intermittent porphyria is a low-penetrant genetic metabolic disease with penetrance considered to be around 10% to 20%. […] Excepting specific AIP populations, the penetrance of AIP in the general population has been estimated to be less than 1%. […] Acute intermittent porphyria affects women to a greater degree than men, with a ratio of between 1.5 and 2 to 1. […] The typical age for the appearance of symptoms is between 18 to 40 years.

• #53 Recent advances in the epidemiology and genetics of acute intermittent porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7586877/

  AIP is an inherited metabolic disease that exhibits an autosomal dominant pattern of inheritance caused by partial deficiencies in HMBS. In Europe, the estimated prevalence of AIP was 5.9 cases per million population, while the prevalence of HMBS variants was 1/1,299~1/1,782, with penetrance estimated at 20-50% in families with AIP but only ~1% in the general population. […] Studies are urgently needed to reveal those aspects.

• #54 Porphyria | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/porphyria-1?embed_domain=hackmd.io%252525252F%2525252540yipuafecsl2jsu8smr5njq%252525252Fbnjhjgjghjghjgh

  Porphyria is rare, with some forms being extremely rare. Estimates for the prevalence of the disease vary in the literature and could reflect differing geographic distribution and/or incomplete reporting. […] Acute intermittent porphyria has a prevalence of 1 in 1600 Caucasians but a low clinical penetrance of approximately 2-3%. Globally it is thought to occur in 5 to 10 per 100,000. […] The most common type of porphyria is porphyria cutanea tarda.

• #55 Porphyria: the facts behind the so-called vampire disease | Medicover Genetics

  https://medicover-genetics.com/porphyria-the-facts-behind-the-so-called-vampire-disease/

  It is estimated that 1 in 200,000 people have porphyria with geographical differences seen. […] Most porphyrias are genetic disorders. Pathogenic variants (mutations) in the genes coding for the enzymes involved in making heme result in changes that disrupt the heme production pathway. […] Inheriting a gene variant for porphyria does not automatically lead to the disease. Other factors may be required before symptoms develop; these include taking certain medication, environmental factors (sunlight, chemicals) or lifestyle changes (diet, alcohol or drug use, stress) and some carriers of a gene variant will never develop porphyria. […] Porphyria cutanea tarda is often acquired rather than inherited and occurs when the enzyme production is affected by specific triggers. These include excess iron in the body, liver disease, smoking or excessive alcohol consumption, medication containing estrogen (hormone replacement or contraceptive pill) or infection.

• #56 Drug-associated porphyria: a pharmacovigilance study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03294-8

  The potentially fatal attacks experienced by porphyria carriers are triggered by various porphyrinogenic drugs. […] Determining the safety of particular drugs is challenging. […] This is the first report of drug-associated porphyria that provides critical information on drug porphyrogenicity, facilitating rational and evidence-based drug prescription and improving the accuracy of porphyrogenicity prediction based on model algorithms. […] Moreover, this study serves a reference for clinicians to ensure that porphyrinogenic drugs are not prescribed to carriers of porphyria genetic mutations. […] The Food and Drug Associations Adverse Event Reporting System (FAERS) is a post-marketing surveillance program seeking voluntary input on adverse drug reactions (ADRs) to monitor drug safety; as such, it is the worlds largest repository of reported hazardous drug events.

• #57 Porphyria: the facts behind the so-called vampire disease | Medicover Genetics

  https://medicover-genetics.com/porphyria-the-facts-behind-the-so-called-vampire-disease/

  It is estimated that 1 in 200,000 people have porphyria with geographical differences seen. […] Most porphyrias are genetic disorders. Pathogenic variants (mutations) in the genes coding for the enzymes involved in making heme result in changes that disrupt the heme production pathway. […] Inheriting a gene variant for porphyria does not automatically lead to the disease. Other factors may be required before symptoms develop; these include taking certain medication, environmental factors (sunlight, chemicals) or lifestyle changes (diet, alcohol or drug use, stress) and some carriers of a gene variant will never develop porphyria. […] Porphyria cutanea tarda is often acquired rather than inherited and occurs when the enzyme production is affected by specific triggers. These include excess iron in the body, liver disease, smoking or excessive alcohol consumption, medication containing estrogen (hormone replacement or contraceptive pill) or infection.

• #58 Porphyria: the facts behind the so-called vampire disease | Medicover Genetics

  https://medicover-genetics.com/porphyria-the-facts-behind-the-so-called-vampire-disease/

  It is estimated that 1 in 200,000 people have porphyria with geographical differences seen. […] Most porphyrias are genetic disorders. Pathogenic variants (mutations) in the genes coding for the enzymes involved in making heme result in changes that disrupt the heme production pathway. […] Inheriting a gene variant for porphyria does not automatically lead to the disease. Other factors may be required before symptoms develop; these include taking certain medication, environmental factors (sunlight, chemicals) or lifestyle changes (diet, alcohol or drug use, stress) and some carriers of a gene variant will never develop porphyria. […] Porphyria cutanea tarda is often acquired rather than inherited and occurs when the enzyme production is affected by specific triggers. These include excess iron in the body, liver disease, smoking or excessive alcohol consumption, medication containing estrogen (hormone replacement or contraceptive pill) or infection.

• #59 Recent advances in the epidemiology and genetics of acute intermittent porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7586877/

  AIP is an autosomal dominant metabolic disorder with a variable prevalence among different countries. Because it is a rare disease with multiple phenotypes, its prevalence is difficult to evaluate. Therefore, information about the prevalence of AIP is most often based on estimates. Variations in the prevalence and penetrance of AIP in various studies are probably due to different inclusion criteria and methods of assessment. […] The prevalence, penetrance, and genetic traits of Chinese patients with AIP are still unclear and need to be fully evaluated. […] Much of the information on AIP comes from a 3-year prospective study of newly diagnosed symptomatic patients with AIP in 11 European countries, and the annual incidence of symptomatic AIP was reported to be 0.13 per million. Its prevalence, which was calculated based on the incidence and mean disease duration, was 5.9 per million in Europe. […] This finding strongly suggests that other factors act as a catalyst for AIP attacks, such as modifying genes and environmental factors.

• #60 Porphyria: the facts behind the so-called vampire disease | Medicover Genetics

  https://medicover-genetics.com/porphyria-the-facts-behind-the-so-called-vampire-disease/

  It is estimated that 1 in 200,000 people have porphyria with geographical differences seen. […] Most porphyrias are genetic disorders. Pathogenic variants (mutations) in the genes coding for the enzymes involved in making heme result in changes that disrupt the heme production pathway. […] Inheriting a gene variant for porphyria does not automatically lead to the disease. Other factors may be required before symptoms develop; these include taking certain medication, environmental factors (sunlight, chemicals) or lifestyle changes (diet, alcohol or drug use, stress) and some carriers of a gene variant will never develop porphyria. […] Porphyria cutanea tarda is often acquired rather than inherited and occurs when the enzyme production is affected by specific triggers. These include excess iron in the body, liver disease, smoking or excessive alcohol consumption, medication containing estrogen (hormone replacement or contraceptive pill) or infection.

• #61 Porphyria: the facts behind the so-called vampire disease | Medicover Genetics

  https://medicover-genetics.com/porphyria-the-facts-behind-the-so-called-vampire-disease/

  It is estimated that 1 in 200,000 people have porphyria with geographical differences seen. […] Most porphyrias are genetic disorders. Pathogenic variants (mutations) in the genes coding for the enzymes involved in making heme result in changes that disrupt the heme production pathway. […] Inheriting a gene variant for porphyria does not automatically lead to the disease. Other factors may be required before symptoms develop; these include taking certain medication, environmental factors (sunlight, chemicals) or lifestyle changes (diet, alcohol or drug use, stress) and some carriers of a gene variant will never develop porphyria. […] Porphyria cutanea tarda is often acquired rather than inherited and occurs when the enzyme production is affected by specific triggers. These include excess iron in the body, liver disease, smoking or excessive alcohol consumption, medication containing estrogen (hormone replacement or contraceptive pill) or infection.

• #62 Porphyria: the facts behind the so-called vampire disease | Medicover Genetics

  https://medicover-genetics.com/porphyria-the-facts-behind-the-so-called-vampire-disease/

  It is estimated that 1 in 200,000 people have porphyria with geographical differences seen. […] Most porphyrias are genetic disorders. Pathogenic variants (mutations) in the genes coding for the enzymes involved in making heme result in changes that disrupt the heme production pathway. […] Inheriting a gene variant for porphyria does not automatically lead to the disease. Other factors may be required before symptoms develop; these include taking certain medication, environmental factors (sunlight, chemicals) or lifestyle changes (diet, alcohol or drug use, stress) and some carriers of a gene variant will never develop porphyria. […] Porphyria cutanea tarda is often acquired rather than inherited and occurs when the enzyme production is affected by specific triggers. These include excess iron in the body, liver disease, smoking or excessive alcohol consumption, medication containing estrogen (hormone replacement or contraceptive pill) or infection.

• #63 Porphyria: the facts behind the so-called vampire disease | Medicover Genetics

  https://medicover-genetics.com/porphyria-the-facts-behind-the-so-called-vampire-disease/

  It is estimated that 1 in 200,000 people have porphyria with geographical differences seen. […] Most porphyrias are genetic disorders. Pathogenic variants (mutations) in the genes coding for the enzymes involved in making heme result in changes that disrupt the heme production pathway. […] Inheriting a gene variant for porphyria does not automatically lead to the disease. Other factors may be required before symptoms develop; these include taking certain medication, environmental factors (sunlight, chemicals) or lifestyle changes (diet, alcohol or drug use, stress) and some carriers of a gene variant will never develop porphyria. […] Porphyria cutanea tarda is often acquired rather than inherited and occurs when the enzyme production is affected by specific triggers. These include excess iron in the body, liver disease, smoking or excessive alcohol consumption, medication containing estrogen (hormone replacement or contraceptive pill) or infection.

• #64 Porphyria: the facts behind the so-called vampire disease | Medicover Genetics

  https://medicover-genetics.com/porphyria-the-facts-behind-the-so-called-vampire-disease/

  It is estimated that 1 in 200,000 people have porphyria with geographical differences seen. […] Most porphyrias are genetic disorders. Pathogenic variants (mutations) in the genes coding for the enzymes involved in making heme result in changes that disrupt the heme production pathway. […] Inheriting a gene variant for porphyria does not automatically lead to the disease. Other factors may be required before symptoms develop; these include taking certain medication, environmental factors (sunlight, chemicals) or lifestyle changes (diet, alcohol or drug use, stress) and some carriers of a gene variant will never develop porphyria. […] Porphyria cutanea tarda is often acquired rather than inherited and occurs when the enzyme production is affected by specific triggers. These include excess iron in the body, liver disease, smoking or excessive alcohol consumption, medication containing estrogen (hormone replacement or contraceptive pill) or infection.

• #65 Porphyria: the facts behind the so-called vampire disease | Medicover Genetics

  https://medicover-genetics.com/porphyria-the-facts-behind-the-so-called-vampire-disease/

  It is estimated that 1 in 200,000 people have porphyria with geographical differences seen. […] Most porphyrias are genetic disorders. Pathogenic variants (mutations) in the genes coding for the enzymes involved in making heme result in changes that disrupt the heme production pathway. […] Inheriting a gene variant for porphyria does not automatically lead to the disease. Other factors may be required before symptoms develop; these include taking certain medication, environmental factors (sunlight, chemicals) or lifestyle changes (diet, alcohol or drug use, stress) and some carriers of a gene variant will never develop porphyria. […] Porphyria cutanea tarda is often acquired rather than inherited and occurs when the enzyme production is affected by specific triggers. These include excess iron in the body, liver disease, smoking or excessive alcohol consumption, medication containing estrogen (hormone replacement or contraceptive pill) or infection.

• #66 Porphyria Cutanea Tarda (PCT) | International Porphyria Network

  https://new.porphyrianet.org/en/content/porphyria-cutanea-tarda-pct-0

  Porphyria cutanea tarda (PCT) is the commonest porphyria worldwide, affecting between 1:5,000 to 1:70,000 of the population, depending on geographical location. […] PCT affects both men and women, with a slight male preponderance in Northern Europe and the United States but affects predominantly males in southern Europe due to increased exposure to risk factors. […] Hepatitis C is an important predisposing factor for PCT in many European countries. […] PCT in patients with hepatitis C may resolve on treatment with direct acting antiviral (DAA) drugs.

• #67 Orphanet: Acute hepatic porphyria

  https://www.orpha.net/en/disease/detail/95157

  A subgroup of porphyria characterized by the occurrence of neurovisceral attacks with or without cutaneous signs. They encompass four diseases: acute intermittent porphyria (PAI; the most common), variegate porphyria (VP), hereditary coproporphyria (HC), and hereditary delta-aminolevulinic acid dehydratase deficiency (ADP; extremely rare). […] In most European countries, the prevalence of acute hepatic porphyria (AHP) is about 1/75,000. […] Acute hepatic porphyrias are monogenic disorders with autosomal dominant pattern of inheritance (except for ADP, which is autosomal recessive). There is a 50% risk of transmitting the pathogenic variant from an affected individual to their offspring. Genetic counseling is recommended to patients and families to identify individuals at risk of developing or transmitting the disease. […] AHP is a risk factor for the long-term development of hepatocellular carcinoma and chronic renal failure. Annual monitoring is proposed to detect these chronic complications.

• #68 Acute hepatic porphyria and hepatocellular carcinoma | British Journal of Cancer

  https://www.nature.com/articles/bjc198823

  In this study we examined the case histories of 163 living and 82 deceased adult Finnish patients with acute hepatic porphyria. […] Among the 124 of the 163 living patients, who were traced 1984-1985, no hepatocellular carcinoma was found. […] Among the 82 deceased patients the cause of death was porphyria in 29 (36%), cardiovascular disease in 23 (29%) and hepatocellular carcinoma in 7 (9%). […] Of the 7 patients with hepatocellular carcinoma, 6 had acute intermittent porphyria and one had variegate porphyria. […] In acute hepatic porphyria, as compared with the total population, the calculated risk of hepatocellular carcinoma is increased 61-fold.

• #69 Disorders in Depth — United Porphyrias Association

  https://www.porphyria.org/healthcare-professionals/disorders-in-depth

  The skin is not affected, except in some AIP patients who have developed kidney failure, in whom plasma levels of uroporphyrin may increase due to impaired renal clearance. […] Risks for developing systemic arterial hypertension, chronic renal disease, and liver cancer (hepatocellular carcinoma) are increased in AIP. […] Patients with chronic kidney disease should have regular monitoring with a nephrologist. HCC surveillance with liver ultrasound or other imaging every 6 months, is recommended starting at the age of 50 years old for early detection. The risk of development of HCC is likely greater among patients with chronically elevated levels of ALA and PBG in serum and urine. […] Liver transplantation has been shown to be an effective treatment for AHP patients with frequent and severe recurrent attacks who were resistant to conventional treatment including Panhematin. However, experience with this treatment modality is still limited. […] The prognosis is usually good if the disease is recognized and if treatment is prompt, before severe nerve dysfunction develops.

• #70 Acute hepatic porphyria — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/acute-hepatic-porphyria/

  Asymptomatic first-degree relatives are most readily diagnosed by DNA testing. Those found to have the variant should be counselled. […] An individual with a pathogenic variant in HMBS but no symptoms is referred to as having latent porphyria, or, if urinary PBG is elevated, as an asymptomatic high excretor. […] Monitoring of blood pressure, renal function, liver fibrosis and screening for liver cancer should be considered. In those over 50 years of age, an ultrasound for surveillance for hepatocellular carcinoma once every six months is advisable.

• #71 What Hematologists Need to Know About Acute Hepatic Porphyria – Hematology & Oncology

  https://www.hematologyandoncology.net/archives/november-2016/what-hematologists-need-to-know-about-acute-hepatic-porphyria/

  Based on estimates from Western Europe, the combined prevalence of the acute hepatic porphyrias among the white population is approximately 1 in 200,000. […] These patients need ongoing follow-up and monitoring. They are at increased risk for hepatocellular carcinoma, so patients aged 50 years and older should receive annual screening using a combination of liver ultrasound and alpha-fetoprotein levels. […] In a study from France, 59% of symptomatic patients developed chronic kidney disease.

• #72 Disorders in Depth — United Porphyrias Association

  https://www.porphyria.org/healthcare-professionals/disorders-in-depth

  The skin is not affected, except in some AIP patients who have developed kidney failure, in whom plasma levels of uroporphyrin may increase due to impaired renal clearance. […] Risks for developing systemic arterial hypertension, chronic renal disease, and liver cancer (hepatocellular carcinoma) are increased in AIP. […] Patients with chronic kidney disease should have regular monitoring with a nephrologist. HCC surveillance with liver ultrasound or other imaging every 6 months, is recommended starting at the age of 50 years old for early detection. The risk of development of HCC is likely greater among patients with chronically elevated levels of ALA and PBG in serum and urine. […] Liver transplantation has been shown to be an effective treatment for AHP patients with frequent and severe recurrent attacks who were resistant to conventional treatment including Panhematin. However, experience with this treatment modality is still limited. […] The prognosis is usually good if the disease is recognized and if treatment is prompt, before severe nerve dysfunction develops.

• #73 Acute Porphyria: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/957604-overview

  Mortality/Morbidity […] Mortality is associated with secondary cardiovascular disease, chronic renal failure, and hepatocellular carcinoma. Catecholamine hypersecretion has been implicated in cases of sudden death. Long-term morbidity results from renal damage, hypertension, peripheral neuropathy, and psychiatric disturbances. A Norwegian study, by Baravelli et al, supported the contention that acute porphyria increases the risk of primary liver cancer (PLC), finding that, in comparison with the reference population, the adjusted hazard ratio for PLC in acute porphyria patients was 108. The investigators also conducted a literature review, which indicated that the risk of acute porphyria-related PLC is greater in women than in men. In addition, the authors found evidence that acute porphyria raises the risk of renal and endometrial cancer.

• #74 Acute Porphyria: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/957604-overview

  Mortality/Morbidity […] Mortality is associated with secondary cardiovascular disease, chronic renal failure, and hepatocellular carcinoma. Catecholamine hypersecretion has been implicated in cases of sudden death. Long-term morbidity results from renal damage, hypertension, peripheral neuropathy, and psychiatric disturbances. A Norwegian study, by Baravelli et al, supported the contention that acute porphyria increases the risk of primary liver cancer (PLC), finding that, in comparison with the reference population, the adjusted hazard ratio for PLC in acute porphyria patients was 108. The investigators also conducted a literature review, which indicated that the risk of acute porphyria-related PLC is greater in women than in men. In addition, the authors found evidence that acute porphyria raises the risk of renal and endometrial cancer.

• #75 Acute Porphyria: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/957604-overview

  Mortality/Morbidity […] Mortality is associated with secondary cardiovascular disease, chronic renal failure, and hepatocellular carcinoma. Catecholamine hypersecretion has been implicated in cases of sudden death. Long-term morbidity results from renal damage, hypertension, peripheral neuropathy, and psychiatric disturbances. A Norwegian study, by Baravelli et al, supported the contention that acute porphyria increases the risk of primary liver cancer (PLC), finding that, in comparison with the reference population, the adjusted hazard ratio for PLC in acute porphyria patients was 108. The investigators also conducted a literature review, which indicated that the risk of acute porphyria-related PLC is greater in women than in men. In addition, the authors found evidence that acute porphyria raises the risk of renal and endometrial cancer.

• #76 Porphyria: often misunderstood and rarely diagnosed – O&G Magazine

  https://www.ogmagazine.org.au/24/1-24/porphyria-often-misunderstood-and-rarely-diagnosed/

  The good news is that testing for porphyria is straightforward and inexpensive. […] If AHP was regularly tested for in people presenting to their GP or gynaecologist with persistent, unexplained abdominal pain, we would see the numbers of patients diagnosed increase. […] Experts in Australia have long expressed how underdiagnosed AHP is. It is estimated that there are over 500 patients that are currently undiagnosed in Australia and New Zealand. […] Porphyria is underdiagnosed, and while there are some major centres that have clinics, we need more research into the disease. […] Understanding and awareness of the disease are key drivers to help improve the care that these women receive. […] Testing, listening and knowledge is key for the better treatment of women with AHP.

• #77 Porphyria: often misunderstood and rarely diagnosed – O&G Magazine

  https://www.ogmagazine.org.au/24/1-24/porphyria-often-misunderstood-and-rarely-diagnosed/

  The porphyrias are a group of rare genetic metabolic diseases that are often misunderstood and rarely diagnosed. They are characterised by changes to the heme biosynthesis pathway. The different subtypes of porphyria are often confused by medical professionals and patients alike. There are eight types of porphyria, and they are broken down into acute and cutaneous subcategories. […] The acute porphyrias present as acute attacks that are triggered by a variety of environmental and pathological factors. Symptoms tend to be worse in women than men and attacks can be life-threatening if not promptly identified and treated. […] Without the correct diagnostic testing, this can be the end of the journey to diagnosis for patients. Many women can have a delay of up to ten years until the correct diagnosis is confirmed.

• #78 The porphyrias | International Porphyria Network

  https://new.porphyrianet.org/en/content/porphyrias

  The porphyrias are a group of eight disorders of the heme biosynthesis pathway that present with acute neurovisceral symptoms, photosensitising skin lesions or both. […] Accurate diagnosis of clinically overt (symptomatic) porphyria requires identification of the unique pattern of overproduction of heme precursors that results from each enzyme deficiency. […] The majority (an estimated 80% within families) of those who inherit an autosomal dominant porphyria remain asymptomatic throughout life but which individuals will fall into this category cannot be predicted. […] The prevalence in most European countries is 1-2 per 100,000 inhabitants; most of these have AIP. […] The main exception is Sweden where the prevalence of AIP is high (1 per 1500 people in northern Sweden) due to a founder effect.

• #79 Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02314-9

  Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis. […] The prevalence of symptomatic patients with AHP in Europe is estimated at 1:100,000. […] Most symptomatic patients have only a few APAs in their lifetime; however, up to 8% will suffer from ongoing attacks (typically defined as at least four APAs per year). […] A timely diagnosis of AHP is crucial as untreated acute attacks can progress, become more severe and potentially lead to permanent neurological damage, or even be life-threatening. […] Diagnosis is challenging due to a non-specific, variable presentation with many of the symptoms mimicking other, more prevalent conditions. […] However, a relatively straightforward biochemical test for urinary PBG, ALA and porphyrins using a single random (spot) sample can exclude or provide an initial diagnosis of AHP.

• #80 Acute hepatic porphyria — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/acute-hepatic-porphyria/

  Acute hepatic porphyria is a genetic condition with a variety of exacerbating factors, including genomic factors that determine if symptoms will occur. […] Acute hepatic porphyria is an autosomal dominant disorder with low penetrance. […] The estimated prevalence of patients with symptoms is about 1 in 100,000. […] A pathogenic variant in the HMBS gene can be identified by DNA testing (single gene sequencing). Data from population-level genomic studies show the pathogenic variants for acute porphyria are between 1 in 1,300 and 1 in 1,785. […] Diagnosis is based on biochemical findings in patients with symptoms. DNA testing is important for confirming the diagnosis and enables detection of family members with latent porphyria, who are at some risk for developing future symptoms. […] Individuals with suspected acute porphyria should be tested to confirm the diagnosis.

• #81 Acute hepatic porphyria — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/acute-hepatic-porphyria/

  Asymptomatic first-degree relatives are most readily diagnosed by DNA testing. Those found to have the variant should be counselled. […] An individual with a pathogenic variant in HMBS but no symptoms is referred to as having latent porphyria, or, if urinary PBG is elevated, as an asymptomatic high excretor. […] Monitoring of blood pressure, renal function, liver fibrosis and screening for liver cancer should be considered. In those over 50 years of age, an ultrasound for surveillance for hepatocellular carcinoma once every six months is advisable.

• #82 Acute Porphyria: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/957604-overview

  Epidemiology […] The absence of a porphyria registry in the United States impedes accurate calculation of disease frequency. Incidence of the acute porphyrias varies with type. The highly variable phenotypic expression results in a highly variable penetrance. Most individuals with the genetic defects are asymptomatic. Therefore, underdiagnosis and variable penetrance contribute to the lack of knowledge about the incidence of acute porphyria. […] The frequency of the genetic defects that cause porphyria is unknown. Surveillance studies aimed at symptomatic families may bias genetic defect prevalence. Incidences listed in Table 3 below mitigate surveillance bias. Studies in Finnish and Russian populations indicate that the risk of developing symptoms may be proportional to the specific mutation in AIP.

• #83 Acute Porphyria: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/957604-overview

  Epidemiology […] The absence of a porphyria registry in the United States impedes accurate calculation of disease frequency. Incidence of the acute porphyrias varies with type. The highly variable phenotypic expression results in a highly variable penetrance. Most individuals with the genetic defects are asymptomatic. Therefore, underdiagnosis and variable penetrance contribute to the lack of knowledge about the incidence of acute porphyria. […] The frequency of the genetic defects that cause porphyria is unknown. Surveillance studies aimed at symptomatic families may bias genetic defect prevalence. Incidences listed in Table 3 below mitigate surveillance bias. Studies in Finnish and Russian populations indicate that the risk of developing symptoms may be proportional to the specific mutation in AIP.

• #84 Porphyria Overview: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1389981-overview

  The combined prevalence of the acute porphyrias is approximately 5 cases per 100,000 persons. Porphyria cutanea tarda is the most common porphyria, with a prevalence of 1 in 10,000. The most common acute porphyria, acute intermittent porphyria, has a prevalence of approximately 1 in 20,000, and the prevalence of the most common erythropoietic porphyria, erythropoietic protoporphyria, is estimated at 1 in 50,000 to 75,000. […] The European Porphyria Network collected information prospectively on newly diagnosed symptomatic patients with an inherited porphyria from 11 countries and calculated that the annual incidence of symptomatic acute intermittent porphyria was around 0.13 case per million, except in Sweden, where it was 0.51 case per million. The prevalence of acute intermittent porphyria was estimated at 5.4 cases per million population. An estimated 3%-5% of individuals with acute intermittent porphyria experience recurrent attacks (more than 4 per year).

• #85 Porphyria Overview: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1389981-overview

  The combined prevalence of the acute porphyrias is approximately 5 cases per 100,000 persons. Porphyria cutanea tarda is the most common porphyria, with a prevalence of 1 in 10,000. The most common acute porphyria, acute intermittent porphyria, has a prevalence of approximately 1 in 20,000, and the prevalence of the most common erythropoietic porphyria, erythropoietic protoporphyria, is estimated at 1 in 50,000 to 75,000. […] The European Porphyria Network collected information prospectively on newly diagnosed symptomatic patients with an inherited porphyria from 11 countries and calculated that the annual incidence of symptomatic acute intermittent porphyria was around 0.13 case per million, except in Sweden, where it was 0.51 case per million. The prevalence of acute intermittent porphyria was estimated at 5.4 cases per million population. An estimated 3%-5% of individuals with acute intermittent porphyria experience recurrent attacks (more than 4 per year).

• #86 Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02314-9

  Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis. […] The prevalence of symptomatic patients with AHP in Europe is estimated at 1:100,000. […] Most symptomatic patients have only a few APAs in their lifetime; however, up to 8% will suffer from ongoing attacks (typically defined as at least four APAs per year). […] A timely diagnosis of AHP is crucial as untreated acute attacks can progress, become more severe and potentially lead to permanent neurological damage, or even be life-threatening. […] Diagnosis is challenging due to a non-specific, variable presentation with many of the symptoms mimicking other, more prevalent conditions. […] However, a relatively straightforward biochemical test for urinary PBG, ALA and porphyrins using a single random (spot) sample can exclude or provide an initial diagnosis of AHP.

• #87 Recent advances in the epidemiology and genetics of acute intermittent porphyria

  https://www.jstage.jst.go.jp/article/irdr/9/4/9_2020.03082/_article/-char/ja/

  Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). […] Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, and particularly to the evaluation of new treatments. […] Here, the prevalence and penetrance of AIP are analyzed systematically, and the genetic traits of different populations and findings regarding the genotype-phenotype correlation are summarized. […] The status of research on AIP in China reveals the lack of epidemiological and genetic studies of the Chinese population, a situation that needs to be promptly remedied.

• #88 Recent advances in the epidemiology and genetics of acute intermittent porphyria

  https://www.jstage.jst.go.jp/article/irdr/9/4/9_2020.03082/_article/-char/en

  Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). […] Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, and particularly to the evaluation of new treatments. […] Variations in the prevalence and penetrance of AIP in various studies may due to the different inclusion criteria and methods of assessment. […] Here, the prevalence and penetrance of AIP are analyzed systematically, and the genetic traits of different populations and findings regarding the genotype-phenotype correlation are summarized. […] The status of research on AIP in China reveals the lack of epidemiological and genetic studies of the Chinese population, a situation that needs to be promptly remedied.

• #89 Acute Intermittent Porphyria Market Size, Share | Trend 2034

  https://www.imarcgroup.com/acute-intermittent-porphyria-market

  The acute intermittent porphyria market has been comprehensively analyzed in IMARC’s new report titled „Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034.” […] The increasing incidence of rare metabolic disorders and the rising prevalence of numerous associated risk factors, including excessive alcohol consumption, hormonal changes, certain medications, etc., are primarily driving the acute intermittent porphyria market. […] IMARC Group’s new report provides an exhaustive analysis of the acute intermittent porphyria market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. This includes treatment practices, in-market, and pipeline drugs, share of individual therapies, market performance across the seven major markets, market performance of key companies and their drugs, etc.

• #90 Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034

  https://www.researchandmarkets.com/reports/5969608/acute-intermittent-porphyria-market?srsltid=AfmBOor6rgHA2LxgCnHiayK4M8ZvqPAIBh-g6L9d5qeXh9Fic_hsT5nc

  The acute intermittent porphyria market has been comprehensively analyzed in this report titled „Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034”. […] According to the report the United States has the largest patient pool for acute intermittent porphyria and also represents the largest market for its treatment. […] This report provides an exhaustive analysis of the acute intermittent porphyria market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] Historical, current, and future epidemiology scenario […] What is the number of prevalent cases (2018-2034) of acute intermittent porphyria across the seven major markets? […] What is the size of the acute intermittent porphyria patient pool (2018-2023) across the seven major markets? […] What would be the forecasted patient pool (2024-2034) across the seven major markets? […] What are the key factors driving the epidemiological trend of acute intermittent porphyria? […] What will be the growth rate of patients across the seven major markets?

• #91 Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034

  https://www.researchandmarkets.com/reports/5969608/acute-intermittent-porphyria-market?srsltid=AfmBOor6rgHA2LxgCnHiayK4M8ZvqPAIBh-g6L9d5qeXh9Fic_hsT5nc

  The acute intermittent porphyria market has been comprehensively analyzed in this report titled „Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034”. […] According to the report the United States has the largest patient pool for acute intermittent porphyria and also represents the largest market for its treatment. […] This report provides an exhaustive analysis of the acute intermittent porphyria market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] Historical, current, and future epidemiology scenario […] What is the number of prevalent cases (2018-2034) of acute intermittent porphyria across the seven major markets? […] What is the size of the acute intermittent porphyria patient pool (2018-2023) across the seven major markets? […] What would be the forecasted patient pool (2024-2034) across the seven major markets? […] What are the key factors driving the epidemiological trend of acute intermittent porphyria? […] What will be the growth rate of patients across the seven major markets?

• #92 Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034

  https://www.researchandmarkets.com/reports/5969608/acute-intermittent-porphyria-market?srsltid=AfmBOor6rgHA2LxgCnHiayK4M8ZvqPAIBh-g6L9d5qeXh9Fic_hsT5nc

  The acute intermittent porphyria market has been comprehensively analyzed in this report titled „Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034”. […] According to the report the United States has the largest patient pool for acute intermittent porphyria and also represents the largest market for its treatment. […] This report provides an exhaustive analysis of the acute intermittent porphyria market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] Historical, current, and future epidemiology scenario […] What is the number of prevalent cases (2018-2034) of acute intermittent porphyria across the seven major markets? […] What is the size of the acute intermittent porphyria patient pool (2018-2023) across the seven major markets? […] What would be the forecasted patient pool (2024-2034) across the seven major markets? […] What are the key factors driving the epidemiological trend of acute intermittent porphyria? […] What will be the growth rate of patients across the seven major markets?

• #93 Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034

  https://www.researchandmarkets.com/reports/5969608/acute-intermittent-porphyria-market?srsltid=AfmBOor6rgHA2LxgCnHiayK4M8ZvqPAIBh-g6L9d5qeXh9Fic_hsT5nc

  The acute intermittent porphyria market has been comprehensively analyzed in this report titled „Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034”. […] According to the report the United States has the largest patient pool for acute intermittent porphyria and also represents the largest market for its treatment. […] This report provides an exhaustive analysis of the acute intermittent porphyria market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] Historical, current, and future epidemiology scenario […] What is the number of prevalent cases (2018-2034) of acute intermittent porphyria across the seven major markets? […] What is the size of the acute intermittent porphyria patient pool (2018-2023) across the seven major markets? […] What would be the forecasted patient pool (2024-2034) across the seven major markets? […] What are the key factors driving the epidemiological trend of acute intermittent porphyria? […] What will be the growth rate of patients across the seven major markets?

• #94 Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034

  https://www.researchandmarkets.com/reports/5969608/acute-intermittent-porphyria-market?srsltid=AfmBOor6rgHA2LxgCnHiayK4M8ZvqPAIBh-g6L9d5qeXh9Fic_hsT5nc

  The acute intermittent porphyria market has been comprehensively analyzed in this report titled „Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034”. […] According to the report the United States has the largest patient pool for acute intermittent porphyria and also represents the largest market for its treatment. […] This report provides an exhaustive analysis of the acute intermittent porphyria market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] Historical, current, and future epidemiology scenario […] What is the number of prevalent cases (2018-2034) of acute intermittent porphyria across the seven major markets? […] What is the size of the acute intermittent porphyria patient pool (2018-2023) across the seven major markets? […] What would be the forecasted patient pool (2024-2034) across the seven major markets? […] What are the key factors driving the epidemiological trend of acute intermittent porphyria? […] What will be the growth rate of patients across the seven major markets?

• #95 Acute Intermittent Porphyria Market Size, Share | Trend 2034

  https://www.imarcgroup.com/acute-intermittent-porphyria-market

  According to the report the United States has the largest patient pool for acute intermittent porphyria and also represents the largest market for its treatment. […] What is the number of prevalent cases (2018-2034) of acute intermittent porphyria across the seven major markets? […] What is the size of the acute intermittent porphyria patient pool (2018-2023) across the seven major markets? […] What would be the forecasted patient pool (2024-2034) across the seven major markets? […] What are the key factors driving the epidemiological trend of acute intermittent porphyria? […] What will be the growth rate of patients across the seven major markets?

• #96 Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034

  https://www.researchandmarkets.com/reports/5969608/acute-intermittent-porphyria-market?srsltid=AfmBOor6rgHA2LxgCnHiayK4M8ZvqPAIBh-g6L9d5qeXh9Fic_hsT5nc

  The acute intermittent porphyria market has been comprehensively analyzed in this report titled „Acute Intermittent Porphyria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034”. […] According to the report the United States has the largest patient pool for acute intermittent porphyria and also represents the largest market for its treatment. […] This report provides an exhaustive analysis of the acute intermittent porphyria market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] Historical, current, and future epidemiology scenario […] What is the number of prevalent cases (2018-2034) of acute intermittent porphyria across the seven major markets? […] What is the size of the acute intermittent porphyria patient pool (2018-2023) across the seven major markets? […] What would be the forecasted patient pool (2024-2034) across the seven major markets? […] What are the key factors driving the epidemiological trend of acute intermittent porphyria? […] What will be the growth rate of patients across the seven major markets?

• #97 Recent advances in the epidemiology and genetics of acute intermittent porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7586877/

  Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, and particularly to the evaluation of new treatments. Variations in the prevalence and penetrance of AIP in various studies may due to the different inclusion criteria and methods of assessment. Here, the prevalence and penetrance of AIP are analyzed systematically, and the genetic traits of different populations and findings regarding the genotype-phenotype correlation are summarized. […] The status of research on AIP in China reveals the lack of epidemiological and genetic studies of the Chinese population, a situation that needs to be promptly remedied.

• #98 Recent advances in the epidemiology and genetics of acute intermittent porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7586877/

  AIP is an autosomal dominant metabolic disorder with a variable prevalence among different countries. Because it is a rare disease with multiple phenotypes, its prevalence is difficult to evaluate. Therefore, information about the prevalence of AIP is most often based on estimates. Variations in the prevalence and penetrance of AIP in various studies are probably due to different inclusion criteria and methods of assessment. […] The prevalence, penetrance, and genetic traits of Chinese patients with AIP are still unclear and need to be fully evaluated. […] Much of the information on AIP comes from a 3-year prospective study of newly diagnosed symptomatic patients with AIP in 11 European countries, and the annual incidence of symptomatic AIP was reported to be 0.13 per million. Its prevalence, which was calculated based on the incidence and mean disease duration, was 5.9 per million in Europe. […] This finding strongly suggests that other factors act as a catalyst for AIP attacks, such as modifying genes and environmental factors.

• #99 Recent advances in the epidemiology and genetics of acute intermittent porphyria

  https://www.jstage.jst.go.jp/article/irdr/9/4/9_2020.03082/_article/-char/en

  Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). […] Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, and particularly to the evaluation of new treatments. […] Variations in the prevalence and penetrance of AIP in various studies may due to the different inclusion criteria and methods of assessment. […] Here, the prevalence and penetrance of AIP are analyzed systematically, and the genetic traits of different populations and findings regarding the genotype-phenotype correlation are summarized. […] The status of research on AIP in China reveals the lack of epidemiological and genetic studies of the Chinese population, a situation that needs to be promptly remedied.

• #100 SciELO Brazil – Acute hepatic porphyrias for the neurologist: current concepts and perspectives Acute hepatic porphyrias for the neurologist: current concepts and perspectives

  https://www.scielo.br/j/anp/a/zbNWs5c54XLWRkfG38SrfLf/

  In Brazil, epidemiological data result from information published by the Brazilian Porphyria Association (Associao Brasileira de Porfria ABRAPO) and reveal a similar prevalence of AHPs, except for the low occurrence of VP in the country. […] Furthermore, AHPs are associated with medical and financial burden in Europe and the US due to recurrent and extended hospitalizations, chronic and severe clinical comorbidities, and the high costs of disease-modifying therapies and medical health related to chronic complications. Currently, the study of acute porphyria is crucial for the early diagnosis of debilitating disorders, proper distribution of financial resources in the health care system, and the early availability of new genetic therapies for the treatment of AHPs.

• #101 Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02314-9

  Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis. […] The prevalence of symptomatic patients with AHP in Europe is estimated at 1:100,000. […] Most symptomatic patients have only a few APAs in their lifetime; however, up to 8% will suffer from ongoing attacks (typically defined as at least four APAs per year). […] A timely diagnosis of AHP is crucial as untreated acute attacks can progress, become more severe and potentially lead to permanent neurological damage, or even be life-threatening. […] Diagnosis is challenging due to a non-specific, variable presentation with many of the symptoms mimicking other, more prevalent conditions. […] However, a relatively straightforward biochemical test for urinary PBG, ALA and porphyrins using a single random (spot) sample can exclude or provide an initial diagnosis of AHP.

• #102 Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02314-9

  AHP should be considered in patients with severe unexplained abdominal pain (which occurs in 90% of acute attacks), particularly if present alongside any of the following signs and symptoms: pain in other parts of the body, nausea, constipation, mental confusion, change in urine color, muscle weakness, hyponatremia, tachycardia and hypertension. […] Current treatment options focus on acute attack management and the resolution of symptoms. […] Given the limitations of the current therapeutic landscape, novel approaches for the development of efficacious and safe AHP therapies are needed. […] Givosiran is subcutaneously administered and has been developed to reduce the overproduction of potentially neurotoxic heme intermediates in the liver. […] Results from a Phase III clinical study (ENVISION) in AHP patients with recurrent attacks showed, compared to placebo, a lower attack rate, less debilitating symptoms and an improved QoL between attacks.

• #103 Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02314-9

  AHP should be considered in patients with severe unexplained abdominal pain (which occurs in 90% of acute attacks), particularly if present alongside any of the following signs and symptoms: pain in other parts of the body, nausea, constipation, mental confusion, change in urine color, muscle weakness, hyponatremia, tachycardia and hypertension. […] Current treatment options focus on acute attack management and the resolution of symptoms. […] Given the limitations of the current therapeutic landscape, novel approaches for the development of efficacious and safe AHP therapies are needed. […] Givosiran is subcutaneously administered and has been developed to reduce the overproduction of potentially neurotoxic heme intermediates in the liver. […] Results from a Phase III clinical study (ENVISION) in AHP patients with recurrent attacks showed, compared to placebo, a lower attack rate, less debilitating symptoms and an improved QoL between attacks.

• #104 Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02314-9

  AHP should be considered in patients with severe unexplained abdominal pain (which occurs in 90% of acute attacks), particularly if present alongside any of the following signs and symptoms: pain in other parts of the body, nausea, constipation, mental confusion, change in urine color, muscle weakness, hyponatremia, tachycardia and hypertension. […] Current treatment options focus on acute attack management and the resolution of symptoms. […] Given the limitations of the current therapeutic landscape, novel approaches for the development of efficacious and safe AHP therapies are needed. […] Givosiran is subcutaneously administered and has been developed to reduce the overproduction of potentially neurotoxic heme intermediates in the liver. […] Results from a Phase III clinical study (ENVISION) in AHP patients with recurrent attacks showed, compared to placebo, a lower attack rate, less debilitating symptoms and an improved QoL between attacks.

• #105 Porphyria | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/porphyria-1?embed_domain=hackmd.io%252525252F%2525252540yipuafecsl2jsu8smr5njq%252525252Fbnjhjgjghjghjgh

  Porphyria is rare, with some forms being extremely rare. Estimates for the prevalence of the disease vary in the literature and could reflect differing geographic distribution and/or incomplete reporting. […] Acute intermittent porphyria has a prevalence of 1 in 1600 Caucasians but a low clinical penetrance of approximately 2-3%. Globally it is thought to occur in 5 to 10 per 100,000. […] The most common type of porphyria is porphyria cutanea tarda.

• #106 Porphyria – Wikipedia

  https://en.wikipedia.org/wiki/Porphyria

  Porphyria Cutanea Tarda (PCT) is the most common form of porphyria, with an estimated prevalence of 1 to 2 cases per 10,000 individuals in the general population. […] These prevalence estimates may vary across different regions and populations, and the actual prevalence of congenital porphyrias may be underreported due to challenges in diagnosis and awareness. Additionally, advances in genetic testing and increased awareness of porphyria may lead to more accurate epidemiological data in the future.

• #107 Acute hepatic porphyria — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/acute-hepatic-porphyria/

  Asymptomatic first-degree relatives are most readily diagnosed by DNA testing. Those found to have the variant should be counselled. […] An individual with a pathogenic variant in HMBS but no symptoms is referred to as having latent porphyria, or, if urinary PBG is elevated, as an asymptomatic high excretor. […] Monitoring of blood pressure, renal function, liver fibrosis and screening for liver cancer should be considered. In those over 50 years of age, an ultrasound for surveillance for hepatocellular carcinoma once every six months is advisable.

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