Porphyria

This article is about the medical condition. For other uses, see Porphyry (disambiguation).
Not to be confused with Porphyra or Porphyrio.

Porphyria
Left figure is urine on the first day while the right figure is urine after three days of sun exposure showing the classic change in color to purple.
Pronunciation
SpecialtyHematology, dermatology, neurology
SymptomsDepending on subtype—abdominal pain, chest pain, vomiting, confusion, constipation, fever, seizures, blisters with sunlight[1][2]
Usual onsetRecurrent attacks that last days to weeks[2]
CausesUsually genetic[2]
Diagnostic methodBlood, urine, and stool tests, genetic testing[2]
Differential diagnosisLead poisoning, alcoholic liver disease[3]
TreatmentDepends on type and symptoms[2]
Frequency1 to 100 in 50,000 people[1]

Porphyria /pɔːrˈfɪriə/ is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system.[1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration.[1] Symptoms of an attack include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure, and high heart rate.[1][2][4] The attacks usually last for days to weeks.[2] Complications may include paralysis, low blood sodium levels, and seizures.[4] Attacks may be triggered by alcohol, smoking, hormonal changes, fasting, stress, or certain medications.[2][4] If the skin is affected, blisters or itching may occur with sunlight exposure.[2]

Most types of porphyria are inherited from one or both of a person's parents and are due to a mutation in one of the genes that make heme.[2] They may be inherited in an autosomal dominant, autosomal recessive, or X-linked dominant manner.[1] One type, porphyria cutanea tarda, may also be due to hemochromatosis (increased iron in the liver), hepatitis C, alcohol, or HIV/AIDS.[1] The underlying mechanism results in a decrease in the amount of heme produced and a build-up of substances involved in making heme.[1] Porphyrias may also be classified by whether the liver or bone marrow is affected.[1] Diagnosis is typically made by blood, urine, and stool tests.[2] Genetic testing may be done to determine the specific mutation.[2] Hepatic porphyrias are those in which the enzyme deficiency occurs in the liver. Hepatic porphyrias include acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD), hereditary coproporphyria (HCP), and porphyria cutanea tarda.[5]

Treatment depends on the type of porphyria and the person's symptoms.[2] Treatment of porphyria of the skin generally involves the avoidance of sunlight, while treatment for acute porphyria may involve giving intravenous heme or a glucose solution.[2] Rarely, a liver transplant may be carried out.[2]

The precise prevalence of porphyria is unclear, but it is estimated to affect between 1 and 100 per 50,000 people.[1] Rates are different around the world.[2] Porphyria cutanea tarda is believed to be the most common type.[1] The disease was described as early as 370 BC by Hippocrates.[6] The underlying mechanism was first described by German physiologist and chemist Felix Hoppe-Seyler in 1871.[6] The name porphyria is from the Greek πορφύρα, porphyra, meaning "purple", a reference to the color of the urine that may be present during an attack.[6]

  1. ^ a b c d e f g h i j k "porphyria". MedlinePlus. July 2009. Retrieved 31 March 2021.
  2. ^ a b c d e f g h i j k l m n o p Cite error: The named reference NIDDK was invoked but never defined (see the help page).
  3. ^ Dancygier, Henryk (2009). Clinical Hepatology: Principles and Practice of Hepatobiliary Diseases. Springer Science & Business Media. p. 1088. ISBN 9783642045196. Archived from the original on 8 September 2017.
  4. ^ a b c Stein, PE; Badminton, MN; Rees, DC (February 2017). "Update review of the acute porphyrias". British Journal of Haematology. 176 (4): 527–538. doi:10.1111/bjh.14459. PMID 27982422. S2CID 19970176.
  5. ^ Kothadia, Jiten P.; LaFreniere, Kilian; Shah, Jamil M. (2024), "Acute Hepatic Porphyria", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 30725863, retrieved 31 March 2024
  6. ^ a b c McManus, Linda (2014). Pathobiology of Human Disease: A Dynamic Encyclopedia of Disease Mechanisms. Elsevier. p. 1488. ISBN 9780123864574. Archived from the original on 8 September 2017.