Erythropoietic porphyria
Erythropoietic porphyria is a rare, inherited disorder characterized by sensitivity to sunlight, resulting in painful, blistering skin lesions on sun-exposed areas of the body. This condition is a type of porphyria, which refers to a group of disorders that can cause nerve damage, abdominal pain, and mental changes.
Symptoms[edit | edit source]
The primary symptom of erythropoietic porphyria is extreme sensitivity to sunlight, even to light passing through window glass. This sensitivity can lead to painful, blistering lesions on sun-exposed areas of the skin. Other symptoms can include changes in skin pigmentation, increased hair growth on affected skin, red or brown urine, and anemia.
Causes[edit | edit source]
Erythropoietic porphyria is caused by mutations in the UROS or GATA1 genes. These mutations lead to a deficiency of an enzyme called uroporphyrinogen III synthase, which is essential for the normal production of a molecule called heme. Heme is a vital component of hemoglobin, the protein in red blood cells that carries oxygen. The lack of this enzyme leads to the accumulation of porphyrins, which are toxic to tissues and cause the symptoms of the disorder.
Diagnosis[edit | edit source]
Diagnosis of erythropoietic porphyria is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. These tests can include a urine test for porphyrins, a blood test, and genetic testing.
Treatment[edit | edit source]
There is currently no cure for erythropoietic porphyria. Treatment is aimed at managing symptoms and preventing complications. This can include avoiding sunlight, using sun-protective clothing and sunscreen, and regular blood transfusions in some cases. In severe cases, a bone marrow transplant may be considered.
See also[edit | edit source]
Erythropoietic porphyria Resources | ||
---|---|---|
|
|
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Admin, Prab R. Tumpati, MD