Porphyrias
Porphyrias are a group of rare genetic disorders that affect the production of heme, a vital component of hemoglobin in red blood cells. These conditions can lead to a buildup of porphyrins, which are chemicals involved in heme production. Symptoms can vary widely, including skin sensitivity to sunlight, abdominal pain, and neurological issues.
There are several types of porphyrias, such as acute intermittent porphyria and porphyria cutanea tarda, each with distinct causes and symptoms. Diagnosis typically involves blood, urine, and stool tests to measure porphyrin levels. Treatment focuses on managing symptoms and preventing triggers, such as certain medications or alcohol.