Hepatoerythropoietic porphyria

Hepatoerythropoietic porphyria (HEP) is a rare, autosomal recessive metabolic disorder that results from a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD). This deficiency leads to the accumulation of porphyrins in the body, causing a variety of symptoms.

Pronunciation

Hepatoerythropoietic porphyria is pronounced as heh-pah-toh-eh-rith-roh-poi-kee-uh por-fear-ee-uh.

Etymology

The term "Hepatoerythropoietic porphyria" is derived from the Greek words "hepar" (liver), "erythros" (red), "poiesis" (making), and "porphyra" (purple), referring to the liver's role in red blood cell production and the purple color of the urine in individuals with this condition.

Symptoms

The symptoms of Hepatoerythropoietic porphyria can vary widely among individuals. They may include photosensitivity, skin fragility, blistering, and scarring, primarily on the hands, face, and areas exposed to the sun. Other symptoms may include abdominal pain, nausea, vomiting, constipation, or diarrhea, as well as neurological and psychological symptoms.

Diagnosis

Diagnosis of Hepatoerythropoietic porphyria is based on the clinical symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests that can detect high levels of certain chemicals (porphyrins) in the urine and stool.

Treatment

There is currently no cure for Hepatoerythropoietic porphyria. Treatment is aimed at managing symptoms and preventing complications. This may include avoiding sunlight, using sunscreen, wearing protective clothing, and managing pain and other symptoms with medication.

Related Terms

• Porphyria
• Uroporphyrinogen decarboxylase
• Metabolic disorder
• Photosensitivity
• Autosomal recessive

External links

• Medical encyclopedia article on Hepatoerythropoietic porphyria
• Wikipedia's article - Hepatoerythropoietic porphyria

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