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

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

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

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

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

• Porphyria
• Uroporphyrinogen III synthase
• Heme
• Hemoglobin
• UROS
• GATA1

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