Materiały źródłowe

• #1 Diagnosis and management of porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1127427/

  Although porphyria is a relatively uncommon condition, it should be considered in patients presenting with an atypical medical, psychiatric, or surgical history. Acute attacks are associated with a substantial morbidity and mortality; there is a need for rapid and accurate diagnosis of the neuropsychiatric porphyrias, particularly because haem arginate can induce a definite remission if given early in an attack. Additionally, porphyrias may present with skin lesions or photosensitivity. […] The acute porphyrias are often misdiagnosed; most commonly they present as acute abdominal pain or as neurological or atypical psychiatric symptoms. […] When a patient is diagnosed with an acute porphyria the whole family needs to be screened. […] Correct interpretation of the appropriate biochemical investigations is essential for accurately diagnosing and managing the porphyrias, as clinical features alone are not sufficiently specific either to confirm a diagnosis or to distinguish between the various forms.

• #2 Obstacles to Early Diagnosis of Acute Hepatic Porphyria | CEG

  https://www.dovepress.com/obstacles-to-early-diagnosis-of-acute-hepatic-porphyria-current-perspe-peer-reviewed-fulltext-article-CEG

  Porphyrias are, for the most part, inherited disorders of the heme biosynthetic pathway which lead to accumulation of specific intermediates responsible for most of the symptoms and signs of biochemically active disease. […] Diagnosing AHPs is often challenging, requiring a high index of suspicion and the appropriate testing showing elevated ALA and/or PBG in a random urine specimen. […] Early and accurate diagnosis of acute hepatic porphyrias starts with an astute clinician obtaining a focused and pertinent history, ordering the appropriate first-line screening biochemical tests, followed by confirmatory genetic testing if first-line testing is abnormal. […] The symptoms, signs, and complications of AHP are thought to be due mainly to the accumulation of porphyrin precursors of the heme synthesis pathway; namely, ALA and PBG.

• #3 Porphyria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072

  Many symptoms of porphyria are like those of other more common diseases. Because porphyria is rare, it can be difficult to diagnose. […] Lab tests are needed to make a diagnosis of porphyria and to determine which form of the condition you have. The types of tests depend on the type of porphyria your health care provider suspects. Tests include a combination of blood, urine or stool testing to measure porphyrin levels. Other tests may be needed. Genetic tests may be helpful to confirm the diagnosis and determine the type of porphyria you have. […] If you have symptoms of porphyria, you’re likely to start by seeing your primary care provider. However, because porphyria can be difficult to diagnose, you may be referred to a specialist in blood disorders (hematologist) or skin conditions (dermatologist).

• #4 Laboratory Diagnosis of Porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8391404/

  Porphyrias continue to be underdiagnosed, although laboratory diagnosis based on the measurement of metabolites could be utilized to support clinical suspicion in all symptomatic patients. […] The clinical diagnosis of porphyria is difficult as the condition may manifest with a broad and unspecific spectrum of clinical symptoms mimicking several other disorders. However, once suspected, the diagnosis of porphyria may be established using several laboratory tests available for symptomatic patients. […] The laboratory diagnostic procedures comprise the following three important sequential steps: (i) the biochemical measurement of porphyrin precursors and porphyrins in the plasma, blood, urine, and feces, including both qualitative screening and quantitative confirmatory tests; (ii) the determination of specific enzymatic activities in erythrocytes or immortalized lymphocytes; and (iii) mutational analysis using both classical and next-generation molecular genetics techniques.

• #5 Diagnosis and management of porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1127427/

  Although porphyria is a relatively uncommon condition, it should be considered in patients presenting with an atypical medical, psychiatric, or surgical history. Acute attacks are associated with a substantial morbidity and mortality; there is a need for rapid and accurate diagnosis of the neuropsychiatric porphyrias, particularly because haem arginate can induce a definite remission if given early in an attack. Additionally, porphyrias may present with skin lesions or photosensitivity. […] The acute porphyrias are often misdiagnosed; most commonly they present as acute abdominal pain or as neurological or atypical psychiatric symptoms. […] When a patient is diagnosed with an acute porphyria the whole family needs to be screened. […] Correct interpretation of the appropriate biochemical investigations is essential for accurately diagnosing and managing the porphyrias, as clinical features alone are not sufficiently specific either to confirm a diagnosis or to distinguish between the various forms.

• #6 Porphyria Diagnosis — United Porphyrias Association

  https://www.porphyria.org/diagnosis

  All porphyria diagnoses are confirmed by biochemical testing (using urine, blood and/or stool samples). Clinical diagnoses without positive biochemical results are not considered diagnostic of porphyria. […] Biochemical testing, or blood and urine tests, are the first ones that should be done when a type of porphyria is suspected. The specific biochemical tests depend on the symptoms. For all the first line tests the results will be very high if someone has porphyria. Small increases in these tests are generally not diagnostic. […] Each type of porphyria (with exception of Sporadic PCT) is caused by a mutation, or change, in the genetic material that codes for a specific enzyme in the heme pathway. This testing is done on a blood, saliva, or mouth swab sample, generally after the biochemical testing has been done in someone who was recently diagnosed, or in family members of someone with a porphyria. […] Recommendations for testing family members depends on how the different porphyrias are inherited.

• #7 Diagnosis and Testing – American Porphyria Foundation

  https://porphyriafoundation.org/for-healthcare-professionals/diagnosis-and-testing/

  An acute porphyria should be suspected if patient presents with neurolvisceral signs and symptoms. The first-line screening test is measurement of urinary porphobilinogen (PBG). PBG is markedly increased in all patients during acute porphyria attacks and not markedly elevated in other medical conditions that can present with similar symptoms. Therefore, this test is both sensitive and specific for diagnosing an acute porphyria. […] If urine ALA and PBG are normal during an attack, it essentially rules out an acute porphyria. If urine ALA and PBG are markedly increased, a diagnosis of an acute porphyria is confirmed and further testing is needed to identify the type of acute porphyria. […] For all the porphyrias genetic testing is recommended to confirm the diagnosis as well as biochemical testing.

• #8 AI Porphyria Differential Diagnosis │ Healthcare Professionals

  https://isitaip.com/hcp/differential-diagnosis/

  AIP can be readily diagnosed by laboratory testing, especially at or near the time of symptoms when large amounts of porphyrin precursors (i.e., porphobilinogen and -aminolevulinic acid) and porphyrins accumulate in the body. […] Once AIP is suspected in a symptomatic patient, the diagnosis should be confirmed immediately with a PBG urine test. […] Urinary PBG level is markedly increased (20-200 mg/L) in patients with acute attacks of AIP and is never markedly increased in diseases other than acute porphyrias. Thus, the test is both sensitive and specific, and it will confirm the initial diagnosis when done at or near the time of symptoms. […] If a patients PBG level is increased, additional tests, some on the same urine sample, should be done to determine the precise acute porphyria. […] Once biochemical studies have confirmed the diagnosis of AIP, DNA analysis can identify the disease-causing genetic mutation(s). […] DNA analysis is also important for identification of asymptomatic carrier family members who may be at risk for developing acute attacks in the future.

• #9 Obstacles to Early Diagnosis of Acute Hepatic Porphyria | CEG

  https://www.dovepress.com/obstacles-to-early-diagnosis-of-acute-hepatic-porphyria-current-perspe-peer-reviewed-fulltext-article-CEG

  Elevated ALA is the hallmark of all acute attacks of AHP. Therefore, the initial screening test of choice involves random urinary testing for ALA, PBG, and creatinine. […] In patients with positive screening results, confirmatory genetic testing to ascertain the type of AHP should be performed. […] Diagnosis of AHP is based on high index of suspicion in patients presenting with unexplained recurrent generalized, poorly localized abdominal pain, especially in women in the age range of 15-50 years. […] A rapid urine PBG is the initial screening test whenever acute porphyria is suspected. […] Genetic testing is used to confirm the diagnosis of AHP in patients with biochemical evidence of disease and identify the specific type of AHP.

• #10 Tests for Porphyria Diagnosis – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/testing-for-porphyria/tests-for-porphyria-diagnosis/

  The porphyrin precursors porphobilinogen (PBG) and aminolevulinic acid (ALA) and porphyrins are readily measured in urine. […] The Mauzerall-Granick method and variations of that method are preferred for measuring ALA and PBG and have been available for many years. […] Because PBG is generally so strikingly increased during an attack of acute Porphyria, quantitation even on a spot sample (rather than a 24 hour collection) is highly informative. […] Therefore, screening for acute Porphyrias should probably include measurement of total urinary porphyrins. […] Measurement of PBG in serum is useful when acute Porphyria is suspected and urine cannot be collected for example in patients with kidney failure. […] The total amount of porphyrins in a urine sample is easily measured. […] An increase in total urine porphyrins with a predominance of coproporphyrin is seen especially in HCP and VP.

• #11 Tests for Porphyria Diagnosis – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/testing-for-porphyria/tests-for-porphyria-diagnosis/

  The porphyrin precursors porphobilinogen (PBG) and aminolevulinic acid (ALA) and porphyrins are readily measured in urine. […] The Mauzerall-Granick method and variations of that method are preferred for measuring ALA and PBG and have been available for many years. […] Because PBG is generally so strikingly increased during an attack of acute Porphyria, quantitation even on a spot sample (rather than a 24 hour collection) is highly informative. […] Therefore, screening for acute Porphyrias should probably include measurement of total urinary porphyrins. […] Measurement of PBG in serum is useful when acute Porphyria is suspected and urine cannot be collected for example in patients with kidney failure. […] The total amount of porphyrins in a urine sample is easily measured. […] An increase in total urine porphyrins with a predominance of coproporphyrin is seen especially in HCP and VP.

• #12 Tests for Porphyria Diagnosis – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/testing-for-porphyria/tests-for-porphyria-diagnosis/

  When total urine porphyrins are increased due to Porphyria Cutanea Tarda (PCT) or Hepatoerythropoietic Porphyria (HEP), the increase is predominantly accounted for by uroporphyrin and heptacarboxyl porphyrin. […] Plasma (or serum) total porphyrins is a very useful and underutilized test when a Porphyria is suspected as a cause of photosensitivity. […] The preferred method, at least for screening, involves diluting plasma with a nonacid, neutral buffer and measuring the porphyrins directly by fluorescence scanning. […] The excess porphyrins in plasma in VP are mostly covalently linked to plasma proteins and are readily detected by the method of fluorescence scanning but may not be detected by the HPLC methods. […] Erythrocyte porphyrin measurements are customarily reported as erythrocyte protoporphyrin. […] The only condition in which free protoporphyrin (not complexed with Zn) is increased is EPP. […] Specific mutations can be identified by DNA testing. […] Therefore, DNA testing is most meaningful only after standard testing for Porphyria has confirmed a diagnosis.

• #13 Diagnosis and management of porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1127427/

  Acute attacks of porphyria are invariably associated with raised urinary excretion of aminolaevulinic acid and porphobilinogen. A fresh urine sample, protected from light, should be sent to a specialist laboratory for accurate quantitation of aminolaevulinic acid and porphobilinogen concentrations. […] The diagnosis of acute intermittent porphyria can be further confirmed by the demonstration of reduced red cell hydroxymethylbilane synthase activity, although it is important to check that routine haematological indices are normal. […] The cutaneous porphyrias are treated by avoidance of sunlight and attention to skin care. Additionally, venesection to deplete excess iron stores, oral chloroquine to increase urinary porphyrin excretion, and avoidance of alcohol and oestrogens are all particularly helpful in porphyria cutanea tarda.

• #14 Diagnosis and Testing – American Porphyria Foundation

  https://porphyriafoundation.org/for-healthcare-professionals/diagnosis-and-testing/

  An acute porphyria should be suspected if patient presents with neurolvisceral signs and symptoms. The first-line screening test is measurement of urinary porphobilinogen (PBG). PBG is markedly increased in all patients during acute porphyria attacks and not markedly elevated in other medical conditions that can present with similar symptoms. Therefore, this test is both sensitive and specific for diagnosing an acute porphyria. […] If urine ALA and PBG are normal during an attack, it essentially rules out an acute porphyria. If urine ALA and PBG are markedly increased, a diagnosis of an acute porphyria is confirmed and further testing is needed to identify the type of acute porphyria. […] For all the porphyrias genetic testing is recommended to confirm the diagnosis as well as biochemical testing.

• #15 Tests for Porphyria Diagnosis – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/testing-for-porphyria/tests-for-porphyria-diagnosis/

  When total urine porphyrins are increased due to Porphyria Cutanea Tarda (PCT) or Hepatoerythropoietic Porphyria (HEP), the increase is predominantly accounted for by uroporphyrin and heptacarboxyl porphyrin. […] Plasma (or serum) total porphyrins is a very useful and underutilized test when a Porphyria is suspected as a cause of photosensitivity. […] The preferred method, at least for screening, involves diluting plasma with a nonacid, neutral buffer and measuring the porphyrins directly by fluorescence scanning. […] The excess porphyrins in plasma in VP are mostly covalently linked to plasma proteins and are readily detected by the method of fluorescence scanning but may not be detected by the HPLC methods. […] Erythrocyte porphyrin measurements are customarily reported as erythrocyte protoporphyrin. […] The only condition in which free protoporphyrin (not complexed with Zn) is increased is EPP. […] Specific mutations can be identified by DNA testing. […] Therefore, DNA testing is most meaningful only after standard testing for Porphyria has confirmed a diagnosis.

• #16 Tests for Porphyria Diagnosis – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/testing-for-porphyria/tests-for-porphyria-diagnosis/

  When total urine porphyrins are increased due to Porphyria Cutanea Tarda (PCT) or Hepatoerythropoietic Porphyria (HEP), the increase is predominantly accounted for by uroporphyrin and heptacarboxyl porphyrin. […] Plasma (or serum) total porphyrins is a very useful and underutilized test when a Porphyria is suspected as a cause of photosensitivity. […] The preferred method, at least for screening, involves diluting plasma with a nonacid, neutral buffer and measuring the porphyrins directly by fluorescence scanning. […] The excess porphyrins in plasma in VP are mostly covalently linked to plasma proteins and are readily detected by the method of fluorescence scanning but may not be detected by the HPLC methods. […] Erythrocyte porphyrin measurements are customarily reported as erythrocyte protoporphyrin. […] The only condition in which free protoporphyrin (not complexed with Zn) is increased is EPP. […] Specific mutations can be identified by DNA testing. […] Therefore, DNA testing is most meaningful only after standard testing for Porphyria has confirmed a diagnosis.

• #17 Tests for Porphyria Diagnosis – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/testing-for-porphyria/tests-for-porphyria-diagnosis/

  When total urine porphyrins are increased due to Porphyria Cutanea Tarda (PCT) or Hepatoerythropoietic Porphyria (HEP), the increase is predominantly accounted for by uroporphyrin and heptacarboxyl porphyrin. […] Plasma (or serum) total porphyrins is a very useful and underutilized test when a Porphyria is suspected as a cause of photosensitivity. […] The preferred method, at least for screening, involves diluting plasma with a nonacid, neutral buffer and measuring the porphyrins directly by fluorescence scanning. […] The excess porphyrins in plasma in VP are mostly covalently linked to plasma proteins and are readily detected by the method of fluorescence scanning but may not be detected by the HPLC methods. […] Erythrocyte porphyrin measurements are customarily reported as erythrocyte protoporphyrin. […] The only condition in which free protoporphyrin (not complexed with Zn) is increased is EPP. […] Specific mutations can be identified by DNA testing. […] Therefore, DNA testing is most meaningful only after standard testing for Porphyria has confirmed a diagnosis.

• #18 Tests for Porphyria Diagnosis – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/testing-for-porphyria/tests-for-porphyria-diagnosis/

  When total urine porphyrins are increased due to Porphyria Cutanea Tarda (PCT) or Hepatoerythropoietic Porphyria (HEP), the increase is predominantly accounted for by uroporphyrin and heptacarboxyl porphyrin. […] Plasma (or serum) total porphyrins is a very useful and underutilized test when a Porphyria is suspected as a cause of photosensitivity. […] The preferred method, at least for screening, involves diluting plasma with a nonacid, neutral buffer and measuring the porphyrins directly by fluorescence scanning. […] The excess porphyrins in plasma in VP are mostly covalently linked to plasma proteins and are readily detected by the method of fluorescence scanning but may not be detected by the HPLC methods. […] Erythrocyte porphyrin measurements are customarily reported as erythrocyte protoporphyrin. […] The only condition in which free protoporphyrin (not complexed with Zn) is increased is EPP. […] Specific mutations can be identified by DNA testing. […] Therefore, DNA testing is most meaningful only after standard testing for Porphyria has confirmed a diagnosis.

• #19 Tests for Porphyria Diagnosis – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/testing-for-porphyria/tests-for-porphyria-diagnosis/

  When total urine porphyrins are increased due to Porphyria Cutanea Tarda (PCT) or Hepatoerythropoietic Porphyria (HEP), the increase is predominantly accounted for by uroporphyrin and heptacarboxyl porphyrin. […] Plasma (or serum) total porphyrins is a very useful and underutilized test when a Porphyria is suspected as a cause of photosensitivity. […] The preferred method, at least for screening, involves diluting plasma with a nonacid, neutral buffer and measuring the porphyrins directly by fluorescence scanning. […] The excess porphyrins in plasma in VP are mostly covalently linked to plasma proteins and are readily detected by the method of fluorescence scanning but may not be detected by the HPLC methods. […] Erythrocyte porphyrin measurements are customarily reported as erythrocyte protoporphyrin. […] The only condition in which free protoporphyrin (not complexed with Zn) is increased is EPP. […] Specific mutations can be identified by DNA testing. […] Therefore, DNA testing is most meaningful only after standard testing for Porphyria has confirmed a diagnosis.

• #20 Tests for Porphyria Diagnosis – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/testing-for-porphyria/tests-for-porphyria-diagnosis/

  When total urine porphyrins are increased due to Porphyria Cutanea Tarda (PCT) or Hepatoerythropoietic Porphyria (HEP), the increase is predominantly accounted for by uroporphyrin and heptacarboxyl porphyrin. […] Plasma (or serum) total porphyrins is a very useful and underutilized test when a Porphyria is suspected as a cause of photosensitivity. […] The preferred method, at least for screening, involves diluting plasma with a nonacid, neutral buffer and measuring the porphyrins directly by fluorescence scanning. […] The excess porphyrins in plasma in VP are mostly covalently linked to plasma proteins and are readily detected by the method of fluorescence scanning but may not be detected by the HPLC methods. […] Erythrocyte porphyrin measurements are customarily reported as erythrocyte protoporphyrin. […] The only condition in which free protoporphyrin (not complexed with Zn) is increased is EPP. […] Specific mutations can be identified by DNA testing. […] Therefore, DNA testing is most meaningful only after standard testing for Porphyria has confirmed a diagnosis.

• #21 Diagnosis and management of porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1127427/

  Acute attacks of porphyria are invariably associated with raised urinary excretion of aminolaevulinic acid and porphobilinogen. A fresh urine sample, protected from light, should be sent to a specialist laboratory for accurate quantitation of aminolaevulinic acid and porphobilinogen concentrations. […] The diagnosis of acute intermittent porphyria can be further confirmed by the demonstration of reduced red cell hydroxymethylbilane synthase activity, although it is important to check that routine haematological indices are normal. […] The cutaneous porphyrias are treated by avoidance of sunlight and attention to skin care. Additionally, venesection to deplete excess iron stores, oral chloroquine to increase urinary porphyrin excretion, and avoidance of alcohol and oestrogens are all particularly helpful in porphyria cutanea tarda.

• #22 Porphyrias | Choose the Right Test

  https://arupconsult.com/content/porphyrias

  Urine porphyrin fractionation and quantitation is the initial test used to evaluate patients for porphyrias that manifest with blistering cutaneous photosensitivity. […] Erythrocyte porphyrin analysis is the first-line test for evaluating patients for suspected protoporphyrias (EPP or XLP), which are characterized by elevated protoporphyrin levels. […] Once a diagnosis of acute porphyria has been made, porphyrin analysis of stool can be used to differentiate among the specific types; samples should be collected before treatment. […] Total plasma porphyrin analysis is useful as a confirmatory test. […] Erythrocyte porphyrin analysis is used as a first-line test in the diagnosis of protoporphyria. […] After laboratory testing has identified the type of porphyria, additional testing of enzymes and/or variants may help confirm the diagnosis.

• #23 Laboratory diagnosis | International Porphyria Network

  https://new.porphyrianet.org/en/content/laboratory-diagnosis

  Definitive diagnosis of the porphyrias should be carried out in an appropriate porphyria expert laboratory. […] Increased urinary PBG excretion, with a normal plasma fluorescence scan or with a maximum emission peak 623 nm and a normal faecal coproporphyrin III:I isomer ratio. […] A plasma porphyrin fluorescence emission peak at 624-627nm establishes the diagnosis of VP. […] An increased plasma porphyrin fluorescence emission peak at 624-627nm differentiates VP from all other porphyrias, except EPP. […] Increased urinary PBG excretion, with an increased total faecal porphyrin concentration (usually above 200 nmol/g dry wt) with coproporphyrin as the main component and a coproporphyrin III:I ratio greater than 2.0. […] Highly increased urinary ALA excretion, greatly in excess of PBG excretion, and coproporphyrin III usually greater than 250 nmol/mmol.

• #24 Laboratory Diagnosis of Porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8391404/

  The differential diagnosis of porphyria relies on the measurements of porphyrins and relative isomers in urine, feces, and plasma. […] The application of this assay, which is available in several specialized laboratories, would contribute to the identification of patients suspected with AIP and of asymptomatic AIP carriers in family studies. […] DNA analysis is considered the gold standard method for the diagnosis of genetic disorders. […] In conclusion, the genetic testing approach is the most accurate and reliable among the methods available for the diagnostic confirmation of a specific form of porphyria in symptomatic patients.

• #25 Laboratory diagnosis | International Porphyria Network

  https://new.porphyrianet.org/en/content/laboratory-diagnosis

  Definitive diagnosis of the porphyrias should be carried out in an appropriate porphyria expert laboratory. […] Increased urinary PBG excretion, with a normal plasma fluorescence scan or with a maximum emission peak 623 nm and a normal faecal coproporphyrin III:I isomer ratio. […] A plasma porphyrin fluorescence emission peak at 624-627nm establishes the diagnosis of VP. […] An increased plasma porphyrin fluorescence emission peak at 624-627nm differentiates VP from all other porphyrias, except EPP. […] Increased urinary PBG excretion, with an increased total faecal porphyrin concentration (usually above 200 nmol/g dry wt) with coproporphyrin as the main component and a coproporphyrin III:I ratio greater than 2.0. […] Highly increased urinary ALA excretion, greatly in excess of PBG excretion, and coproporphyrin III usually greater than 250 nmol/mmol.

• #26 Laboratory diagnosis | International Porphyria Network

  https://new.porphyrianet.org/en/content/laboratory-diagnosis

  Definitive diagnosis of the porphyrias should be carried out in an appropriate porphyria expert laboratory. […] Increased urinary PBG excretion, with a normal plasma fluorescence scan or with a maximum emission peak 623 nm and a normal faecal coproporphyrin III:I isomer ratio. […] A plasma porphyrin fluorescence emission peak at 624-627nm establishes the diagnosis of VP. […] An increased plasma porphyrin fluorescence emission peak at 624-627nm differentiates VP from all other porphyrias, except EPP. […] Increased urinary PBG excretion, with an increased total faecal porphyrin concentration (usually above 200 nmol/g dry wt) with coproporphyrin as the main component and a coproporphyrin III:I ratio greater than 2.0. […] Highly increased urinary ALA excretion, greatly in excess of PBG excretion, and coproporphyrin III usually greater than 250 nmol/mmol.

• #27 Laboratory diagnosis | International Porphyria Network

  https://new.porphyrianet.org/en/content/laboratory-diagnosis

  Definitive diagnosis of the porphyrias should be carried out in an appropriate porphyria expert laboratory. […] Increased urinary PBG excretion, with a normal plasma fluorescence scan or with a maximum emission peak 623 nm and a normal faecal coproporphyrin III:I isomer ratio. […] A plasma porphyrin fluorescence emission peak at 624-627nm establishes the diagnosis of VP. […] An increased plasma porphyrin fluorescence emission peak at 624-627nm differentiates VP from all other porphyrias, except EPP. […] Increased urinary PBG excretion, with an increased total faecal porphyrin concentration (usually above 200 nmol/g dry wt) with coproporphyrin as the main component and a coproporphyrin III:I ratio greater than 2.0. […] Highly increased urinary ALA excretion, greatly in excess of PBG excretion, and coproporphyrin III usually greater than 250 nmol/mmol.

• #28 Laboratory diagnosis | International Porphyria Network

  https://new.porphyrianet.org/en/content/laboratory-diagnosis

  Definitive diagnosis of the porphyrias should be carried out in an appropriate porphyria expert laboratory. […] Increased urinary PBG excretion, with a normal plasma fluorescence scan or with a maximum emission peak 623 nm and a normal faecal coproporphyrin III:I isomer ratio. […] A plasma porphyrin fluorescence emission peak at 624-627nm establishes the diagnosis of VP. […] An increased plasma porphyrin fluorescence emission peak at 624-627nm differentiates VP from all other porphyrias, except EPP. […] Increased urinary PBG excretion, with an increased total faecal porphyrin concentration (usually above 200 nmol/g dry wt) with coproporphyrin as the main component and a coproporphyrin III:I ratio greater than 2.0. […] Highly increased urinary ALA excretion, greatly in excess of PBG excretion, and coproporphyrin III usually greater than 250 nmol/mmol.

• #29 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Porphyria-Cutanea-Tarda-Diagnosis.aspx

  Diagnosis of porphyria cutanea tarda (PCT) relies on the identification of characteristic symptoms, a comprehensive patient history, and a thorough clinical evaluation involving specialized tests. […] Generally, the tests include: […] Elevation in both urine and plasma porphyrin is expected in PCT patients. The specific pattern of porphyrin levels allows PCT to be distinguished from other porphyrias such as variegate porphyria and erythropoietic protoporphyria. […] A direct fluorometric assay of plasma is also a useful test. In PCT, the plasma porphyrins are elevated with maximal excitation and emission wavelengths at ~400 and ~620 nm, respectively. Following this fluorometric pattern, tests for levels of porphyrins and porphyrin precursors in urine can be used to confirm the diagnosis.

• #30 Plasma Porphyrin Levels: Key to Porphyria Diagnosis and Care – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/plasma-porphyrin-levels-key-to-porphyria-diagnosis-and-care/

  The plasma porphyrin levels test is a critical tool for diagnosing and managing disorders related to porphyrin metabolism, including various forms of porphyria. […] Early detection through a porphyrin screening test is essential for effective treatment and symptom management. […] By measuring porphyrin levels in the blood, healthcare providers can confirm or rule out porphyria as the source of these symptoms. […] For individuals already diagnosed with porphyria, regular monitoring of plasma porphyrin levels is essential for evaluating treatment effectiveness and identifying potential flare-ups. […] The plasma porphyrin levels test is an invaluable diagnostic tool for detecting and monitoring a range of conditions, particularly those related to porphyrin metabolism disorders. […] A plasma porphyrin levels test is essential for diagnosing AIP, as it detects elevated levels of specific porphyrins, particularly porphobilinogen (PBG) and delta-aminolevulinic acid (ALA), during an acute attack.

• #31 Diagnosis of Porphyria – Tests Clinicians Use to Identify the DiseaseEnvelope icon

  https://porphyrianews.com/diagnosis-of-porphyria/

  Measuring total porphyrin levels in the blood is an effective way to screen for cutaneous porphyrias, as porphyrins are rarely found in high quantities there in any other medical condition. […] An erythrocyte porphyrin test measures the amount of porphyrins in red blood cells, or erythrocytes. […] If fecal porphyrin levels are high, physicians may order fractionation tests to separate and identify them, in order to make a more specific diagnosis. […] Specific types of porphyria can be diagnosed by separating — fractionating — different porphyrins and measuring the quantity of each type present.

• #32 Diagnosis and Testing – American Porphyria Foundation

  https://porphyriafoundation.org/for-healthcare-professionals/diagnosis-and-testing/

  An acute porphyria should be suspected if patient presents with neurolvisceral signs and symptoms. The first-line screening test is measurement of urinary porphobilinogen (PBG). PBG is markedly increased in all patients during acute porphyria attacks and not markedly elevated in other medical conditions that can present with similar symptoms. Therefore, this test is both sensitive and specific for diagnosing an acute porphyria. […] If urine ALA and PBG are normal during an attack, it essentially rules out an acute porphyria. If urine ALA and PBG are markedly increased, a diagnosis of an acute porphyria is confirmed and further testing is needed to identify the type of acute porphyria. […] For all the porphyrias genetic testing is recommended to confirm the diagnosis as well as biochemical testing.

• #33 Laboratory Diagnosis of Porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8391404/

  The differential diagnosis of porphyria relies on the measurements of porphyrins and relative isomers in urine, feces, and plasma. […] The application of this assay, which is available in several specialized laboratories, would contribute to the identification of patients suspected with AIP and of asymptomatic AIP carriers in family studies. […] DNA analysis is considered the gold standard method for the diagnosis of genetic disorders. […] In conclusion, the genetic testing approach is the most accurate and reliable among the methods available for the diagnostic confirmation of a specific form of porphyria in symptomatic patients.

• #34 Acute Hepatic Porphyria: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/24112-acute-hepatic-porphyria

  Genetic testing is the gold standard for diagnosing AHP. A genetic test can confirm that you have one of the gene mutations that cause AHP whether or not youre having symptoms. It can also tell you what type of AHP you have and how severe your enzyme deficiency is. A genetic test uses a sample of your blood or saliva. Your local hospital may have to send the sample away to a specialty lab to have it tested.

• #35 Acute Porphyrias – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/the-porphyrias/acute-porphyrias

  If porphyria is suspected, the urine is analyzed for PBG using a rapid qualitative or semiquantitative determination. […] A positive result or high clinical suspicion necessitates quantitative urinary ALA, PBG, and creatinine measurements, preferentially obtained from the same specimen. […] If urinary PBG/creatinine and ALA/creatinine ratios are normal, an alternative diagnosis must be considered. […] Because treatment does not depend on the type of acute porphyria, identification of the specific type is valuable mainly for finding gene carriers among relatives. […] When the type and mutation are already known from previous testing of relatives, the diagnosis is clear but may be confirmed by gene analysis. […] Gene analysis can be used for in utero diagnosis (using amniocentesis or chorionic villus sampling) but is seldom indicated because of the favorable outlook for most gene carriers.

• #36 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/

  Once the genetic mutation has been identified in the patient, at-risk family members should be tested. Family members should receive targeted mutation analysis; they do not need their entire gene sequenced. Family testing is important because the vast majority of patients have latent disease, and identifying a genetic mutation provides an opportunity to counsel these patients about how to avoid the triggering factors that could precipitate acute attacks.

• #37 Porphyria Testing and Diagnosis for Healthcare Providers — United Porphyrias Association

  https://www.porphyria.org/healthcare-professionals/testing-and-diagnosis

  Genetic testing is required to differentiate between EPP and XLP. […] Confirmation of the diagnosis by genetic testing is recommended for all porphyrias. Importantly, knowing the familial mutation(s) enables screening of family members who may be at risk for developing symptoms or may pass a pathogenic mutation to the next generation.

• #38 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

  The diagnosis of AHP is challenging for several reasons. As a group of rare diseases, AHP is often not considered as part of the differential diagnosis when assessing for acute abdominal pain (and other common symptoms). […] Genetic testing of the AHP genes should be undertaken to determine AHP type.

• #39 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

  The diagnosis of AHP is challenging for several reasons. As a group of rare diseases, AHP is often not considered as part of the differential diagnosis when assessing for acute abdominal pain (and other common symptoms). […] Genetic testing of the AHP genes should be undertaken to determine AHP type.

• #40 Testing | Australian Porphyria Association

  https://www.porphyria-australia.org/testing

  Testing for Porphyria […] There are two ways to test for acute and cutaneous porphyria: biochemical testing and genetic testing. […] Test as soon as possible; test at first suspicion and then test again when the symptoms or an attack are at their worst. Testing between attacks can be useful to help understand an individual’s biochemical profile and to help screen family members. It is better to test as soon as possible rather than to delay testing, waiting for worsening symptoms or an acute attack. Testing can then be repeated at another time. […] False negative results are possible and often happen when samples are not handled correctly. […] Once there is a clear diagnosis, further testing is not usually required but may be helpful during acute attacks, periods of worsening symptoms or if new treatments are being tried. […] Genetic testing can be done once there is a clear biochemical diagnosis from the above tests. […] Genetic testing is available for individuals with a known diagnosis of an inherited porphyria and their blood relatives. Genetic testing is performed in a stepwise process; firstly on an affected individual and then if a gene mutation is identified (97% of the time) genetic testing can be offered to relatives who may be at risk of having the mutation. Extended blood relatives may be able to find out whether they have inherited porphyria and take appropriate preventative measures. Although only about one third of people with porphyria will develop symptoms of the condition, they could still pass it on to their children who may or may not suffer from symptoms. There is a clear clinical benefit in knowing whether you have inherited porphyria or not as practices to avoid triggers can be used.

• #41 Porphyria Testing | Quest Diagnostics

  https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/faq223

  Selecting the appropriate test(s) for porphyria depends on the patients symptoms. […] Whether urine or plasma porphyrin analysis is ordered depends largely on the patients presenting symptoms and the differential diagnosis. […] Fecal porphyrin analysis is needed to evaluate or confirm the presence or absence of protoporphyrin, which, because of its limited solubility, is not excreted in urine. Protoporphyrin measurement is needed to distinguish between HCP and VP. Elevated protoporphyrin is also seen in EPP/ XLDPP. If the results of urine or plasma testing are suggestive of these disorders, fecal porphyrin analysis is recommended. […] False-negative results can be seen if the patient was asymptomatic at the time of sample collection or if specimens were exposed to ultraviolet light.

• #42 Diagnosis of the Acute Porphyrias | mysite

  https://www.porphyriaalliance.org/diagnosis-of-the-acute-porphyrias

  The fecal porphyrins test can also detect VP in some cases, which may be elevated, and is mostly Protoporphyrin IX. […] A concerning number of HCP and VP patients are well documented in research papers to never have a positive urine PBG test in and out of an attack, it is simply incomplete and dangerous to do only urine testing, and also possibly illegal in the US, the Urine PBG test is not FDA approved test, and may not be used as a sole means of diagnosis. […] Younger people with any type of Acute Porphyria, symptomatic or not, and HCP, and VP (regardless of age) may not have positive urine ALA or PBG tests even in attacks. […] A fair percentage of AIP patients can have elevated PBG / and or ALA outside of attacks. […] Once a patient has a clear porphyria diagnosis there is no need to continue testing.

• #43 Diagnosis of the Acute Porphyrias | mysite

  https://www.porphyriaalliance.org/diagnosis-of-the-acute-porphyrias

  Certain antibiotics (methenamine hippurate) can cause false negatives on the urine PBG test. […] For HCP and VP, urine PBG and ALA levels may be less elevated during attacks than in AIP and are more likely normal between acute episodes. […] Plasma PBG and ALA testing was found to be a better test than the urine ALA/ PBG test in HCP and VP. […] A negative genetics test does not clear you of porphyria. […] A negative genetics test- because they are not FDA approved, may not be used to deny treatment, or strip a diagnosis, it just means if you have porphyria that your variant has not been discovered yet. […] It is important to note that labs that do not offer deletion and insertion testing might not find mutations with large deletions or insertions. […] Genetics testing may only catch 20% of gene carriers. […] We want to make it very clear no one test is 100% accurate, and certain porphyria tests have false negative rates of close to 40%. […] Porphyria is an inborn error of metabolism and as such testing has to be compared to clinical history.

• #44 Diagnosis of the Acute Porphyrias | mysite

  https://www.porphyriaalliance.org/diagnosis-of-the-acute-porphyrias

  Certain antibiotics (methenamine hippurate) can cause false negatives on the urine PBG test. […] For HCP and VP, urine PBG and ALA levels may be less elevated during attacks than in AIP and are more likely normal between acute episodes. […] Plasma PBG and ALA testing was found to be a better test than the urine ALA/ PBG test in HCP and VP. […] A negative genetics test does not clear you of porphyria. […] A negative genetics test- because they are not FDA approved, may not be used to deny treatment, or strip a diagnosis, it just means if you have porphyria that your variant has not been discovered yet. […] It is important to note that labs that do not offer deletion and insertion testing might not find mutations with large deletions or insertions. […] Genetics testing may only catch 20% of gene carriers. […] We want to make it very clear no one test is 100% accurate, and certain porphyria tests have false negative rates of close to 40%. […] Porphyria is an inborn error of metabolism and as such testing has to be compared to clinical history.

• #45 Diagnosis of the Acute Porphyrias | mysite

  https://www.porphyriaalliance.org/diagnosis-of-the-acute-porphyrias

  Certain antibiotics (methenamine hippurate) can cause false negatives on the urine PBG test. […] For HCP and VP, urine PBG and ALA levels may be less elevated during attacks than in AIP and are more likely normal between acute episodes. […] Plasma PBG and ALA testing was found to be a better test than the urine ALA/ PBG test in HCP and VP. […] A negative genetics test does not clear you of porphyria. […] A negative genetics test- because they are not FDA approved, may not be used to deny treatment, or strip a diagnosis, it just means if you have porphyria that your variant has not been discovered yet. […] It is important to note that labs that do not offer deletion and insertion testing might not find mutations with large deletions or insertions. […] Genetics testing may only catch 20% of gene carriers. […] We want to make it very clear no one test is 100% accurate, and certain porphyria tests have false negative rates of close to 40%. […] Porphyria is an inborn error of metabolism and as such testing has to be compared to clinical history.

• #46 Diagnosis of the Acute Porphyrias | mysite

  https://www.porphyriaalliance.org/diagnosis-of-the-acute-porphyrias

  Certain antibiotics (methenamine hippurate) can cause false negatives on the urine PBG test. […] For HCP and VP, urine PBG and ALA levels may be less elevated during attacks than in AIP and are more likely normal between acute episodes. […] Plasma PBG and ALA testing was found to be a better test than the urine ALA/ PBG test in HCP and VP. […] A negative genetics test does not clear you of porphyria. […] A negative genetics test- because they are not FDA approved, may not be used to deny treatment, or strip a diagnosis, it just means if you have porphyria that your variant has not been discovered yet. […] It is important to note that labs that do not offer deletion and insertion testing might not find mutations with large deletions or insertions. […] Genetics testing may only catch 20% of gene carriers. […] We want to make it very clear no one test is 100% accurate, and certain porphyria tests have false negative rates of close to 40%. […] Porphyria is an inborn error of metabolism and as such testing has to be compared to clinical history.

• #47 Diagnosis of the Acute Porphyrias | mysite

  https://www.porphyriaalliance.org/diagnosis-of-the-acute-porphyrias

  Certain antibiotics (methenamine hippurate) can cause false negatives on the urine PBG test. […] For HCP and VP, urine PBG and ALA levels may be less elevated during attacks than in AIP and are more likely normal between acute episodes. […] Plasma PBG and ALA testing was found to be a better test than the urine ALA/ PBG test in HCP and VP. […] A negative genetics test does not clear you of porphyria. […] A negative genetics test- because they are not FDA approved, may not be used to deny treatment, or strip a diagnosis, it just means if you have porphyria that your variant has not been discovered yet. […] It is important to note that labs that do not offer deletion and insertion testing might not find mutations with large deletions or insertions. […] Genetics testing may only catch 20% of gene carriers. […] We want to make it very clear no one test is 100% accurate, and certain porphyria tests have false negative rates of close to 40%. […] Porphyria is an inborn error of metabolism and as such testing has to be compared to clinical history.

• #48 Diagnosis and management of acute hepatic porphyrias (AHP)AGA Logo_Horizontal

  https://gastro.org/clinical-guidance/diagnosis-and-management-of-acute-hepatic-porphyrias-ahp/

  Experts share 12 pieces of best practice advice for diagnosing and managing acute hepatic porphyrias. […] 1. Women aged 15-50 years with unexplained, recurrent severe abdominal pain without a clear etiology after an initial workup should be considered for screening for an acute hepatic porphyrias (AHP). […] 2. Initial diagnosis of AHP should be made by biochemical testing measuring δ-aminolevulinic acid, porphobilinogen, and creatinine on a random urine sample. […] 3. Genetic testing should be used to confirm the diagnosis of AHP in patients with positive biochemical testing. […] 4. Acute attacks of AHP that are severe enough to require hospital admission should be treated with intravenous hemin, given daily, preferably into a high-flow central vein. […] 5. In addition to intravenous hemin, management of acute attacks of AHP should include pain control, antiemetics, management of systemic arterial hypertension, tachycardia, hyponatremia and hypomagnesemia, if present.

• #49 Diagnosis and management of acute hepatic porphyrias (AHP)AGA Logo_Horizontal

  https://gastro.org/clinical-guidance/diagnosis-and-management-of-acute-hepatic-porphyrias-ahp/

  6. Patients should be counseled to avoid identifiable triggers that may precipitate acute attacks, such as alcohol and porphyrinogenic medications. […] 7. Prophylactic heme therapy or givosiran, administered in an outpatient setting, should be considered in patients with recurrent attacks (4 or more per year). […] 8. Liver transplantation for AHP should be limited to patients with intractable symptoms and significantly decreased quality of life who are refractory to pharmacotherapy. […] 9. Patients with AHP should be monitored annually for liver disease. […] 10. Patients with AHP, regardless of the severity of symptoms, should undergo surveillance for hepatocellular carcinoma, beginning at age 50 years, with liver ultrasound every 6 months. […] 11. Patients with AHP on treatment should undergo surveillance for chronic kidney disease annually with serum creatinine and estimated glomerular filtration rate. […] 12. Patients should be counseled on the chronic and long-term complications of AHP, including neuropathy, chronic kidney disease, hypertension, hepatocellular carcinoma and the need for long-term monitoring.

• #50 Laboratory Diagnosis of Porphyria

  https://www.mdpi.com/2075-4418/11/8/1343

  The laboratory diagnostic procedures comprise the following three important sequential steps: (i) the biochemical measurement of porphyrin precursors and porphyrins in the plasma, blood, urine, and feces, including both qualitative screening and quantitative confirmatory tests; (ii) the determination of specific enzymatic activities in erythrocytes or immortalized lymphocytes; and (iii) mutational analysis using both classical and next-generation molecular genetics techniques. […] In conclusion, routine plasma fluorometric screening could be performed as the first diagnostic approach in cases with high levels of porphyrins in the plasma, such as in those with acute attack and the ones with chronic cutaneous porphyria. However, considering that several porphyria conditions have the same characteristic emission peak, the positive results should be confirmed with specific quantitative analysis of porphyrins to establish the correct diagnosis.

• #51 Testing and diagnosis – British Porphyria Association

  http://porphyria.org.uk/testing-screening/

  An accurate diagnosis of porphyria is vital in order that patients and their families can learn the best ways to deal with their condition. […] Fortunately, once a doctor has thought to investigate porphyria, it is relatively easy to eliminate or confirm a diagnosis. […] In each type of porphyria, there is a distinctive pattern of porphyrins in blood, urine and faeces. This is very useful for diagnosis. […] For these reasons, diagnostic testing is best done by a specialist porphyria laboratory. As they can interpret the exact patterns of each porphyria to determine an accurate result. […] If suffering from symptoms that could potentially be caused by acute porphyria, the first test that should be done is a urine porphobilinogen (PBG) test, and in some cases urinary ALA too. […] Therefore the test needs to be done during the attack to be reliable. If the PBG level is raised, this will be followed by further biochemical testing to confirm which porphyria is present.

• #52 Testing | Australian Porphyria Association

  https://www.porphyria-australia.org/testing

  Testing for Porphyria […] There are two ways to test for acute and cutaneous porphyria: biochemical testing and genetic testing. […] Test as soon as possible; test at first suspicion and then test again when the symptoms or an attack are at their worst. Testing between attacks can be useful to help understand an individual’s biochemical profile and to help screen family members. It is better to test as soon as possible rather than to delay testing, waiting for worsening symptoms or an acute attack. Testing can then be repeated at another time. […] False negative results are possible and often happen when samples are not handled correctly. […] Once there is a clear diagnosis, further testing is not usually required but may be helpful during acute attacks, periods of worsening symptoms or if new treatments are being tried. […] Genetic testing can be done once there is a clear biochemical diagnosis from the above tests. […] Genetic testing is available for individuals with a known diagnosis of an inherited porphyria and their blood relatives. Genetic testing is performed in a stepwise process; firstly on an affected individual and then if a gene mutation is identified (97% of the time) genetic testing can be offered to relatives who may be at risk of having the mutation. Extended blood relatives may be able to find out whether they have inherited porphyria and take appropriate preventative measures. Although only about one third of people with porphyria will develop symptoms of the condition, they could still pass it on to their children who may or may not suffer from symptoms. There is a clear clinical benefit in knowing whether you have inherited porphyria or not as practices to avoid triggers can be used.

• #53 Diagnosis and management of porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1127427/

  Although porphyria is a relatively uncommon condition, it should be considered in patients presenting with an atypical medical, psychiatric, or surgical history. Acute attacks are associated with a substantial morbidity and mortality; there is a need for rapid and accurate diagnosis of the neuropsychiatric porphyrias, particularly because haem arginate can induce a definite remission if given early in an attack. Additionally, porphyrias may present with skin lesions or photosensitivity. […] The acute porphyrias are often misdiagnosed; most commonly they present as acute abdominal pain or as neurological or atypical psychiatric symptoms. […] When a patient is diagnosed with an acute porphyria the whole family needs to be screened. […] Correct interpretation of the appropriate biochemical investigations is essential for accurately diagnosing and managing the porphyrias, as clinical features alone are not sufficiently specific either to confirm a diagnosis or to distinguish between the various forms.

• #54 Orphanet: Variegate porphyria

  https://www.orpha.net/en/disease/detail/79473

  A rare acute hepatic porphyria characterized by neurovisceral attacks and/or skin lesions. […] Diagnosis is based on significantly elevated concentrations of PBG (pathognomonic of acute porphyria attacks) and ALA in urine, and defective PPOX enzyme activity in circulating lymphocytes. Identification of a causal mutation of the PPOX gene confirms the diagnosis. […] Differential diagnoses include acute intermittent porphyria and, particularly, porphyria cutanea tarda. The presence of a fluorometric peak (626-628 nm) in plasma is pathognomonic and allows a definitive diagnosis of variegate porphyria rather than porphyria cutanea tarda. […] Antenatal diagnosis may be offered to families at risk of homozygous porphyria variegata. […] Genetic counseling is offered to patients and their families, informing them that there is a 50% risk of transmitting the disease at each pregnancy.

• #55 Diagnosis and management of porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1127427/

  Although porphyria is a relatively uncommon condition, it should be considered in patients presenting with an atypical medical, psychiatric, or surgical history. Acute attacks are associated with a substantial morbidity and mortality; there is a need for rapid and accurate diagnosis of the neuropsychiatric porphyrias, particularly because haem arginate can induce a definite remission if given early in an attack. Additionally, porphyrias may present with skin lesions or photosensitivity. […] The acute porphyrias are often misdiagnosed; most commonly they present as acute abdominal pain or as neurological or atypical psychiatric symptoms. […] When a patient is diagnosed with an acute porphyria the whole family needs to be screened. […] Correct interpretation of the appropriate biochemical investigations is essential for accurately diagnosing and managing the porphyrias, as clinical features alone are not sufficiently specific either to confirm a diagnosis or to distinguish between the various forms.

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

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

  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.

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