Materiały źródłowe

• #1 What Is Porphyria? Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17760-porphyria

  Your outlook depends on: […] Your healthcare provider can give you the most accurate sense of what you can expect going forward. […] Porphyria might have a big impact on your day-to-day life. Severe symptoms can interrupt your routine and make it hard to work, take care of your family or enjoy hobbies. […] Long-term complications of acute porphyria include high blood pressure, kidney failure and in rare cases liver cancer.

• #2

  https://www.xiahepublishing.com/2310-8819/JCTH-2014-00039

  Fifty years ago, the outlook for acute porphyria with neurological complications was poor, with a reported mortality of 35%. Although the prognosis remains guarded, the number of cases progressing to advanced disease has declined, as a result of heightened awareness, early identification of genetic carriers, and specific therapy in the form of hemin infusion. In patients with neuropathy who respond to treatment, motor deficits resolve slowly but usually completely, over an average of 10-11 months. […] Other late complications of acute porphyria, however, have been documented, including renal insufficiency, subclinical liver disease, and primary liver cancer. The pathogenesis is being evaluated currently but may be related to chronically elevated blood ALA. If this is correct, genetic carriers with normal urine biochemistry are not at risk for these complications. The risk of liver cancer appears to be age-related and probably is higher in those with ongoing liver injury (as indicated by elevated transaminases) than in those with a completely normal liver panel and abdominal imaging. Currently, annual screening with liver imaging, such as ultrasound, and serum alpha-fetoprotein is recommended for known genetic carriers older than age 50.

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

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

  Of 206 adult Finnish patients with acute intermittent porphyria or variegate porphyria, 47 patients had a total of 117 acute attacks during the period of 1967-1989. Six of these patients died during an attack, and 21 attacks were associated with paresis; the frequency of severe attacks was significantly lower than before 1967. Most pareses and deaths occurred because of a delay in diagnosis and inappropriate treatment of porphyria. […] In cases of acute intermittent porphyria, the risk of attacks correlated with the excretion of PBG in the urine during remission among adults; a low rate of excretion predicted freedom from acute attacks. Two percent of the surgical operations and 4% of the pregnancies were associated with acute attacks. Nearly one third of the women had symptoms of porphyria associated with the menstrual cycle, but these seldom progressed to an acute attack. Forty-six percent of the women had used sex-hormone preparations regularly; 2 (4.5%) of the women experienced associated acute attacks.

• #4

  https://www.xiahepublishing.com/2310-8819/JCTH-2014-00039

  Fifty years ago, the outlook for acute porphyria with neurological complications was poor, with a reported mortality of 35%. Although the prognosis remains guarded, the number of cases progressing to advanced disease has declined, as a result of heightened awareness, early identification of genetic carriers, and specific therapy in the form of hemin infusion. In patients with neuropathy who respond to treatment, motor deficits resolve slowly but usually completely, over an average of 10-11 months. […] Other late complications of acute porphyria, however, have been documented, including renal insufficiency, subclinical liver disease, and primary liver cancer. The pathogenesis is being evaluated currently but may be related to chronically elevated blood ALA. If this is correct, genetic carriers with normal urine biochemistry are not at risk for these complications. The risk of liver cancer appears to be age-related and probably is higher in those with ongoing liver injury (as indicated by elevated transaminases) than in those with a completely normal liver panel and abdominal imaging. Currently, annual screening with liver imaging, such as ultrasound, and serum alpha-fetoprotein is recommended for known genetic carriers older than age 50.

• #5 Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases – PubMed

  https://pubmed.ncbi.nlm.nih.gov/1549056/

  We evaluated the prognosis of acute porphyria among 206 adult Finnish patients with acute intermittent porphyria (AIP) or variegate porphyria (VP). […] For those patients who were symptom-free at the time of diagnosis (1365 follow-up years), the risk of the first subsequent attack was significantly smaller than for those who had had an acute attack before the diagnosis of porphyria (1047 follow-up years, p = 0.005). […] In AIP the risk of attacks correlated with the excretion of porphobilinogen in the urine during remission among adults (p = 0.03); a low rate of excretion predicted freedom from acute attacks. […] Patients with AIP or VP showed increased incidences of hepatocellular carcinoma, and probably also chronic renal failure and hypertension.

• #6 Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases – PubMed

  https://pubmed.ncbi.nlm.nih.gov/1549056/

  We evaluated the prognosis of acute porphyria among 206 adult Finnish patients with acute intermittent porphyria (AIP) or variegate porphyria (VP). […] For those patients who were symptom-free at the time of diagnosis (1365 follow-up years), the risk of the first subsequent attack was significantly smaller than for those who had had an acute attack before the diagnosis of porphyria (1047 follow-up years, p = 0.005). […] In AIP the risk of attacks correlated with the excretion of porphobilinogen in the urine during remission among adults (p = 0.03); a low rate of excretion predicted freedom from acute attacks. […] Patients with AIP or VP showed increased incidences of hepatocellular carcinoma, and probably also chronic renal failure and hypertension.

• #7 Clinical and biochemical characteristics and genotype–phenotype correlation in Finnishvariegate porphyria patients | European Journal of Human Genetics

  https://www.nature.com/articles/5200860

  Variegate porphyria (VP) is an inherited metabolic disease resulting from the partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway. […] We have evaluated the clinical and biochemical outcome of 103 Finnish VP patients diagnosed between 1966 and 2001. […] The proportion of patients with acute attacks has decreased dramatically from 38 to 14% in patients diagnosed before and after 1980, whereas the prevalence of skin symptoms had decreased only subtly from 45 to 34%. […] The patients with the I12T mutation experienced no photosensitivity and acute attacks were rare (8%). […] In all VP patients, normal excretion of protoporphyrin in faeces in adulthood predicted freedom from both skin symptoms and acute attacks. […] The most valuable test predicting an increased risk of symptoms was urinary coproporphyrin, but only a substantially increased excretion exceeding 1000nmol/day was associated with an increased risk of both skin symptoms and acute attacks.

• #8 Clinical and biochemical characteristics and genotype–phenotype correlation in Finnishvariegate porphyria patients | European Journal of Human Genetics

  https://www.nature.com/articles/5200860

  The occurrence of skin symptoms was related to a more than fourfold increase in urinary copro- and uroporphyrin excretion. […] In our series, normal excretion of protoporphyrin in faeces in adulthood predicted freedom from both skin symptoms and acute attacks for patients. […] The most valuable test predicting an increased risk of symptoms was urinary coproporphyrin, but only a substantially increased excretion exceeding 1000nmol/day was associated with an increased risk of both skin symptoms and acute attacks and virtually all patients with an excretion of more than 1000nmol/day experienced either skin symptoms, acute attacks, or both.

• #9 Clinical and biochemical characteristics and genotype–phenotype correlation in Finnishvariegate porphyria patients | European Journal of Human Genetics

  https://www.nature.com/articles/5200860

  Variegate porphyria (VP) is an inherited metabolic disease resulting from the partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway. […] We have evaluated the clinical and biochemical outcome of 103 Finnish VP patients diagnosed between 1966 and 2001. […] The proportion of patients with acute attacks has decreased dramatically from 38 to 14% in patients diagnosed before and after 1980, whereas the prevalence of skin symptoms had decreased only subtly from 45 to 34%. […] The patients with the I12T mutation experienced no photosensitivity and acute attacks were rare (8%). […] In all VP patients, normal excretion of protoporphyrin in faeces in adulthood predicted freedom from both skin symptoms and acute attacks. […] The most valuable test predicting an increased risk of symptoms was urinary coproporphyrin, but only a substantially increased excretion exceeding 1000nmol/day was associated with an increased risk of both skin symptoms and acute attacks.

• #10 Clinical and biochemical characteristics and genotype–phenotype correlation in Finnishvariegate porphyria patients | European Journal of Human Genetics

  https://www.nature.com/articles/5200860

  The occurrence of skin symptoms was related to a more than fourfold increase in urinary copro- and uroporphyrin excretion. […] In our series, normal excretion of protoporphyrin in faeces in adulthood predicted freedom from both skin symptoms and acute attacks for patients. […] The most valuable test predicting an increased risk of symptoms was urinary coproporphyrin, but only a substantially increased excretion exceeding 1000nmol/day was associated with an increased risk of both skin symptoms and acute attacks and virtually all patients with an excretion of more than 1000nmol/day experienced either skin symptoms, acute attacks, or both.

• #11 Clinical and biochemical characteristics and genotype–phenotype correlation in Finnishvariegate porphyria patients | European Journal of Human Genetics

  https://www.nature.com/articles/5200860

  The occurrence of skin symptoms was related to a more than fourfold increase in urinary copro- and uroporphyrin excretion. […] In our series, normal excretion of protoporphyrin in faeces in adulthood predicted freedom from both skin symptoms and acute attacks for patients. […] The most valuable test predicting an increased risk of symptoms was urinary coproporphyrin, but only a substantially increased excretion exceeding 1000nmol/day was associated with an increased risk of both skin symptoms and acute attacks and virtually all patients with an excretion of more than 1000nmol/day experienced either skin symptoms, acute attacks, or both.

• #12 Clinical and biochemical characteristics and genotype–phenotype correlation in Finnishvariegate porphyria patients | European Journal of Human Genetics

  https://www.nature.com/articles/5200860

  Variegate porphyria (VP) is an inherited metabolic disease resulting from the partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway. […] We have evaluated the clinical and biochemical outcome of 103 Finnish VP patients diagnosed between 1966 and 2001. […] The proportion of patients with acute attacks has decreased dramatically from 38 to 14% in patients diagnosed before and after 1980, whereas the prevalence of skin symptoms had decreased only subtly from 45 to 34%. […] The patients with the I12T mutation experienced no photosensitivity and acute attacks were rare (8%). […] In all VP patients, normal excretion of protoporphyrin in faeces in adulthood predicted freedom from both skin symptoms and acute attacks. […] The most valuable test predicting an increased risk of symptoms was urinary coproporphyrin, but only a substantially increased excretion exceeding 1000nmol/day was associated with an increased risk of both skin symptoms and acute attacks.

• #13 Mortality in Pedigrees with Acute Intermittent Porphyria

  https://www.mdpi.com/2075-1729/12/12/2059

  High mortality rates have been reported in historical cohorts of acute intermittent porphyria (AIP) patients. […] The mortality associated with (hydroxymethylbilane synthase) HMBS variant heterozygosity is unknown. […] This study estimates all-cause mortality in pedigrees with HMBS gene variants that cause AIP. […] Between 1810 and 2017, the overall mortality in these pedigrees was identical to that of the general Dutch population: (SMR 1.01, p = 0.441). […] However, compared with the general population the SMR was significantly higher in women aged 45–64 years (SMR 1.99, p = 0.00003), which was based on excess mortality between 1915 and 1964 (SMR 1.94, p < 0.00002). [...] In men aged 70–74 years, the SMR was 1.55 (p = 0.0021), based on excess mortality that occurred between 1925 and 1964 (SMR 1.92, p = 0000000003).

• #14 Mortality in Pedigrees with Acute Intermittent Porphyria

  https://www.mdpi.com/2075-1729/12/12/2059

  Overall, mortality from HMBS variant heterozygosity was not increased compared with the general population. […] Severe excess mortality occurred in young women and old men between 1915 and 1964. […] Heterozygotes reached a normal lifespan during the past half-century, in parallel with disease awareness and the prevention of new attacks through family counselling. […] In a Dutch AIP pedigree cohort comprising persons living between 1810 and 2017, the overall mortality compared to the general population was not increased. […] However, severe excess mortality took place in women between 1915 and 1964 and in men between 1925 and 1964. […] Mortality from HMBS heterozygosity was greater in women than in men; women aged between 45 and 64 years had significant excess mortality, whereas only older men aged between 70 and 74 years had excess mortality. […] During the past half-century, HMBS heterozygotes’ life expectancy has normalized.

• #15 Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1273-4

  Persons with AHP had higher risks of accessing long-term sick leave (adjusted hazard ratio (aHR): 1.5, 95% confidence interval (CI): 1.3, 1.7) and disability pension (aHR: 1.9, CI: 1.5, 2.4). […] AHP was associated with increased risk of mortality due to hepatocellular carcinoma (adjusted mortality rate ratio (aMRR): 84.4, CI: 37.8, 188.2), but no overall increased risk of premature death was observed. […] Persons with symptomatic AHP were at increased risk of accessing long-term sick leave and disability pension but not of premature death. […] Having an AHP diagnosis resulted in a 1.9-fold (95%CI:1.5,2.4) increased risk of accessing disability pension compared to the general population. […] Persons with AHP had a 1.3-fold (95% CI: 1.0, 1.8) increased risk of premature death compared to the general population.

• #16 Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1273-4

  In the sub-groups, risk was only increased in unclassified subjects (aHR=3.2, 95% CI: 2.1, 4.4), but not in hospitalised AHP subjects (aHR=1.0, 95% CI: 0.5, 2.5), non-hospitalised AHP subjects (aHR=1.0, 95% CI: 0.6, 1.6), or asymptomatic AHP gene mutation carriers (aHR=0.7, 95% CI: 0.3, 1.4). […] Although the risk of dying from HCC was found to be increased in symptomatic AHP, we found no evidence of overall increased risk of premature death in persons with symptomatic or asymptomatic AHP.

• #17 Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1273-4

  In the sub-groups, risk was only increased in unclassified subjects (aHR=3.2, 95% CI: 2.1, 4.4), but not in hospitalised AHP subjects (aHR=1.0, 95% CI: 0.5, 2.5), non-hospitalised AHP subjects (aHR=1.0, 95% CI: 0.6, 1.6), or asymptomatic AHP gene mutation carriers (aHR=0.7, 95% CI: 0.3, 1.4). […] Although the risk of dying from HCC was found to be increased in symptomatic AHP, we found no evidence of overall increased risk of premature death in persons with symptomatic or asymptomatic AHP.

• #18 Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1273-4

  Persons with AHP had higher risks of accessing long-term sick leave (adjusted hazard ratio (aHR): 1.5, 95% confidence interval (CI): 1.3, 1.7) and disability pension (aHR: 1.9, CI: 1.5, 2.4). […] AHP was associated with increased risk of mortality due to hepatocellular carcinoma (adjusted mortality rate ratio (aMRR): 84.4, CI: 37.8, 188.2), but no overall increased risk of premature death was observed. […] Persons with symptomatic AHP were at increased risk of accessing long-term sick leave and disability pension but not of premature death. […] Having an AHP diagnosis resulted in a 1.9-fold (95%CI:1.5,2.4) increased risk of accessing disability pension compared to the general population. […] Persons with AHP had a 1.3-fold (95% CI: 1.0, 1.8) increased risk of premature death compared to the general population.

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

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

  Long-term complications in patients with acute intermittent porphyria include chronic hypertension, chronic kidney insufficiency, chronic pain syndrome, and hepatocellular carcinoma (HCC). A meta-analysis by Baravelli et al suggested an association between acute hepatic porphyria and increased risks of kidney cancer and endometrial cancer. A systematic review by Ramai et al found that patients with acute hepatic porphyria have a substantially higher risk for primary liver cancer principally HCC but also cholangiocarcinoma which may occur even in the absence of cirrhosis. These authors recommend that patients with acute hepatic porphyria who are older than 50 years undergo screening for HCC as frequently as every 6-12 months, using alfa-fetoprotein measurement in conjunction with imaging modalities. […] Erythropoietic porphyria is a persistent, severely painful, socially disabling disease with a marked impact on quality of life.

• #20 Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases – PubMed

  https://pubmed.ncbi.nlm.nih.gov/1549056/

  We evaluated the prognosis of acute porphyria among 206 adult Finnish patients with acute intermittent porphyria (AIP) or variegate porphyria (VP). […] For those patients who were symptom-free at the time of diagnosis (1365 follow-up years), the risk of the first subsequent attack was significantly smaller than for those who had had an acute attack before the diagnosis of porphyria (1047 follow-up years, p = 0.005). […] In AIP the risk of attacks correlated with the excretion of porphobilinogen in the urine during remission among adults (p = 0.03); a low rate of excretion predicted freedom from acute attacks. […] Patients with AIP or VP showed increased incidences of hepatocellular carcinoma, and probably also chronic renal failure and hypertension.

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

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

  Long-term complications in patients with acute intermittent porphyria include chronic hypertension, chronic kidney insufficiency, chronic pain syndrome, and hepatocellular carcinoma (HCC). A meta-analysis by Baravelli et al suggested an association between acute hepatic porphyria and increased risks of kidney cancer and endometrial cancer. A systematic review by Ramai et al found that patients with acute hepatic porphyria have a substantially higher risk for primary liver cancer principally HCC but also cholangiocarcinoma which may occur even in the absence of cirrhosis. These authors recommend that patients with acute hepatic porphyria who are older than 50 years undergo screening for HCC as frequently as every 6-12 months, using alfa-fetoprotein measurement in conjunction with imaging modalities. […] Erythropoietic porphyria is a persistent, severely painful, socially disabling disease with a marked impact on quality of life.

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

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

  Long-term complications in patients with acute intermittent porphyria include chronic hypertension, chronic kidney insufficiency, chronic pain syndrome, and hepatocellular carcinoma (HCC). A meta-analysis by Baravelli et al suggested an association between acute hepatic porphyria and increased risks of kidney cancer and endometrial cancer. A systematic review by Ramai et al found that patients with acute hepatic porphyria have a substantially higher risk for primary liver cancer principally HCC but also cholangiocarcinoma which may occur even in the absence of cirrhosis. These authors recommend that patients with acute hepatic porphyria who are older than 50 years undergo screening for HCC as frequently as every 6-12 months, using alfa-fetoprotein measurement in conjunction with imaging modalities. […] Erythropoietic porphyria is a persistent, severely painful, socially disabling disease with a marked impact on quality of life.

• #23 Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1273-4

  Persons with AHP had higher risks of accessing long-term sick leave (adjusted hazard ratio (aHR): 1.5, 95% confidence interval (CI): 1.3, 1.7) and disability pension (aHR: 1.9, CI: 1.5, 2.4). […] AHP was associated with increased risk of mortality due to hepatocellular carcinoma (adjusted mortality rate ratio (aMRR): 84.4, CI: 37.8, 188.2), but no overall increased risk of premature death was observed. […] Persons with symptomatic AHP were at increased risk of accessing long-term sick leave and disability pension but not of premature death. […] Having an AHP diagnosis resulted in a 1.9-fold (95%CI:1.5,2.4) increased risk of accessing disability pension compared to the general population. […] Persons with AHP had a 1.3-fold (95% CI: 1.0, 1.8) increased risk of premature death compared to the general population.

• #24 Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02201-3

  Overall, persons with PCT had a 40% increased risk (hazard ratio [HR]=1.4, 95% confidence interval [CI]=1.3, 1.5) of LTSL and a 50% increased risk (HR=1.5, CI=1.3, 1.7) of disability pension. […] Persons with PCT have an increased risk of LTSL and disability pension indicating significant morbidity in this patient group. Appropriate long-term follow-up and monitoring for relapses and co-morbid diseases are recommended. […] In a nationwide matched-cohort study with a 24-year follow-up period, we found that persons with PCT had a 1.4-fold increased risk of a LTSL event and a 1.5-fold increased risk of disability pension during their working life compared to controls. Risk of disability pension was increased 1.3-times pre-PCT, 1.5-times during-PCT and 2.0-times after-PCT. Persons with sporadic and unclassified PCT had the greatest increased risk for both LTSL and disability pension.

• #25 Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02201-3

  We found that persons with PCT had an increased risk of LTSL and disability pension. The risk for LTSL was increased before and during the typical time-period from first symptom onset, through to a diagnosis, treatment and remission. Risk for disability pension was increased over the entire study period, but was greatest following the typical period of remission for a porphyria diagnosis. The risk for disability pension was generally greater for persons with sporadic PCT than familial PCT, supporting the role of comorbidities. Overall, these outcomes indicate increased morbidity amongst PCT patients and, consequently, a decreased participation in the workforce. This is likely due to a number of factors such as PCT comorbid diseases and associated precipitating factors, PCT related symptoms, treatment side-effects and relapse. This highlights the importance of providing adequate follow-up of patients for their PCT and the associated comorbidities, not only until clinical remission but following this period as well.

• #26 Evaluating the Patient Reported Outcomes Measurement Information System Scales in Acute Intermittent Porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7060090/

  All PROMIS domains (anxiety, depression, pain interference, fatigue, sleep disturbance, physical function, and satisfaction with social roles) were able to discriminate well between symptomatic and asymptomatic patients with AIP. The pain interference, anxiety, and fatigue domains were most associated with the clinical features assessed in symptomatic patients. These domains are consistent with what is observed in clinical practice. The sleep disturbance items should be further assessed to determine if they are relevant to this population as a separate domain. […] Pain interference and fatigue were the most responsive scales in measuring QoL in this AIP cohort. Future studies should assess whether these scales capture longitudinal disease progression and treatment response.

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

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

  Long-term complications in patients with acute intermittent porphyria include chronic hypertension, chronic kidney insufficiency, chronic pain syndrome, and hepatocellular carcinoma (HCC). A meta-analysis by Baravelli et al suggested an association between acute hepatic porphyria and increased risks of kidney cancer and endometrial cancer. A systematic review by Ramai et al found that patients with acute hepatic porphyria have a substantially higher risk for primary liver cancer principally HCC but also cholangiocarcinoma which may occur even in the absence of cirrhosis. These authors recommend that patients with acute hepatic porphyria who are older than 50 years undergo screening for HCC as frequently as every 6-12 months, using alfa-fetoprotein measurement in conjunction with imaging modalities. […] Erythropoietic porphyria is a persistent, severely painful, socially disabling disease with a marked impact on quality of life.

• #28 What Is Porphyria? Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17760-porphyria

  Your outlook depends on: […] Your healthcare provider can give you the most accurate sense of what you can expect going forward. […] Porphyria might have a big impact on your day-to-day life. Severe symptoms can interrupt your routine and make it hard to work, take care of your family or enjoy hobbies. […] Long-term complications of acute porphyria include high blood pressure, kidney failure and in rare cases liver cancer.

• #29

  https://www.xiahepublishing.com/2310-8819/JCTH-2014-00039

  Fifty years ago, the outlook for acute porphyria with neurological complications was poor, with a reported mortality of 35%. Although the prognosis remains guarded, the number of cases progressing to advanced disease has declined, as a result of heightened awareness, early identification of genetic carriers, and specific therapy in the form of hemin infusion. In patients with neuropathy who respond to treatment, motor deficits resolve slowly but usually completely, over an average of 10-11 months. […] Other late complications of acute porphyria, however, have been documented, including renal insufficiency, subclinical liver disease, and primary liver cancer. The pathogenesis is being evaluated currently but may be related to chronically elevated blood ALA. If this is correct, genetic carriers with normal urine biochemistry are not at risk for these complications. The risk of liver cancer appears to be age-related and probably is higher in those with ongoing liver injury (as indicated by elevated transaminases) than in those with a completely normal liver panel and abdominal imaging. Currently, annual screening with liver imaging, such as ultrasound, and serum alpha-fetoprotein is recommended for known genetic carriers older than age 50.

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

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

  Long-term complications in patients with acute intermittent porphyria include chronic hypertension, chronic kidney insufficiency, chronic pain syndrome, and hepatocellular carcinoma (HCC). A meta-analysis by Baravelli et al suggested an association between acute hepatic porphyria and increased risks of kidney cancer and endometrial cancer. A systematic review by Ramai et al found that patients with acute hepatic porphyria have a substantially higher risk for primary liver cancer principally HCC but also cholangiocarcinoma which may occur even in the absence of cirrhosis. These authors recommend that patients with acute hepatic porphyria who are older than 50 years undergo screening for HCC as frequently as every 6-12 months, using alfa-fetoprotein measurement in conjunction with imaging modalities. […] Erythropoietic porphyria is a persistent, severely painful, socially disabling disease with a marked impact on quality of life.

• #31 Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02201-3

  Overall, persons with PCT had a 40% increased risk (hazard ratio [HR]=1.4, 95% confidence interval [CI]=1.3, 1.5) of LTSL and a 50% increased risk (HR=1.5, CI=1.3, 1.7) of disability pension. […] Persons with PCT have an increased risk of LTSL and disability pension indicating significant morbidity in this patient group. Appropriate long-term follow-up and monitoring for relapses and co-morbid diseases are recommended. […] In a nationwide matched-cohort study with a 24-year follow-up period, we found that persons with PCT had a 1.4-fold increased risk of a LTSL event and a 1.5-fold increased risk of disability pension during their working life compared to controls. Risk of disability pension was increased 1.3-times pre-PCT, 1.5-times during-PCT and 2.0-times after-PCT. Persons with sporadic and unclassified PCT had the greatest increased risk for both LTSL and disability pension.

• #32 What Is Porphyria? Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17760-porphyria

  Your outlook depends on: […] Your healthcare provider can give you the most accurate sense of what you can expect going forward. […] Porphyria might have a big impact on your day-to-day life. Severe symptoms can interrupt your routine and make it hard to work, take care of your family or enjoy hobbies. […] Long-term complications of acute porphyria include high blood pressure, kidney failure and in rare cases liver cancer.

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