variegate porphyria
Variegate porphyria is a rare genetic disorder that affects the production of heme, a component of hemoglobin in red blood cells. It is caused by mutations in the protoporphyrinogen oxidase gene, leading to a buildup of porphyrins in the body. Symptoms can include abdominal pain, skin sensitivity to sunlight, and neurological issues.
This condition can be triggered by factors such as certain medications, alcohol consumption, and hormonal changes. Diagnosis typically involves blood and urine tests to measure porphyrin levels. Management focuses on avoiding triggers and may include treatments to alleviate symptoms.