Definition:
An autosomal dominant porphyria, Variegate porphyria can have severe, but usually not long-lasting symptoms along with symptoms that affect the skin.
Treatment:
Treatment of the disease has risks. Affected individuals must avoid hazardous medications especially since most of the drugs used are inducers of hepatic cytochrome P450. It is prudent to minimize exposure to factors known to induce attacks and one of the ways to do it of avoiding carbohydrate-restricted diets, moderate alcohol intake and ceasing to smoke.
Symptoms and Signs:
Most of those affected with the condition never experience symptoms but when they do, it can include acute attacks, skin damage, or both. The acute attacks may cause abdominal pain, vomiting, diarrhea, and constipation and these usually begin in adulthood. Affected individuals may experience muscle weakness, seizures, andmental changes such as anxiety and hallucinations.
Causes:
Variegate porphyria is caused by mutations in the PPOX gene, which makes a memnbrane bound enzyme called protoporphyrinogen oxidase. This enzyme is critical to the chemical process that leads to heme production. Activity of the enzyme is reduced among people with Variegate porphyria and in early life cases, there's no activity at all.
The condition also arises from autosomal dominant inheritance of a gene mutation encoding a defective protoprophyrinogen oxidase enzyme protein.
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