Porphyria

Porphyria
Left figure is urine on the first day while the right figure is urine after 3 days of sun exposures showing the classic change in color to purple.
Pronunciation	/pɔːrˈfɪriə/, /pɔːrˈfɪəriə/ or /pɔːrˈfaɪriə/
Classification and external resources
Specialty	Rheumatology, dermatology
ICD-10	E80.0-E80.2
ICD-9-CM	277.1
MedlinePlus	001208
Patient UK	Porphyria
MeSH	C17.800.849.617
Orphanet	738
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Porphyria is a group of diseases in which substances called porphyrins build up, affecting the skin or nervous system. The types that affect the nervous system are also known as acute porphyria. Symptoms of acute porphyria include abdominal pain, chest pain, vomiting, confusion, constipation, fever, and seizures. These symptoms typically come and go with attacks that last for days to weeks. Attacks may be triggered by alcohol, smoking, stress, or certain medications. If the skin is affected, blisters or itching may occur with sunlight exposure.

The disease is usually inherited from a person's parents and is due to a mutation in one of the genes that make heme. Some types are autosomal dominant and others are autosomal recessive. One type, porphyria cutanea tarda, may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS. The underlying mechanism results in a decrease in the amount of heme produced and a build-up of substances involved in making heme. Porphyrias may also be classified by whether the liver or the bone marrow is affected. Diagnosis is typically by blood, urine, and stool tests. Genetic testing may be done to determine the specific mutation.

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

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