Porphyrias are a group of genetic disorders caused by problems in how the body makes heme, a substance found throughout the body and especially in the blood and bone marrow, where it carries oxygen.
Two main types
- Skin type: the skin blisters, itches and swells when exposed to sunlight.
- Nervous system type, called acute porphyria: pain in the chest, abdomen, limbs or back; muscle numbness, tingling, paralysis or cramps; vomiting; constipation; and personality changes or mental disorders. The symptoms come and go.
Attacks
Attacks can be set off by certain medicines, smoking, alcohol, infections, stress and sun exposure. They develop over hours or days and can last days or weeks.
Diagnosis and treatment
Porphyria can be hard to diagnose; it takes blood, urine and stool tests. Each type is treated differently. Treatment may mean avoiding triggers, receiving heme through a vein, taking medicines to ease symptoms, or having blood drawn to lower the body's iron. Severe attacks may need a hospital stay.
Sources
- MedlinePlus, U.S. National Library of Medicine, "Porphyria," from the NIH National Institute of Diabetes and Digestive and Kidney Diseases. https://medlineplus.gov/porphyria.html
- Rewritten in hubnx's own words.
Licence: CC0 1.0 (public domain) · Adapted from medlineplus.gov
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