Hereditary Coproporphyria
Hereditary Coproporphyria is a rare genetic disorder that affects the production of heme, a vital component of hemoglobin in red blood cells. It is caused by mutations in the CPOX gene, leading to an accumulation of porphyrins in the body. Symptoms can include abdominal pain, skin sensitivity, and neurological issues, which may vary in severity.
The condition is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene from an affected parent can cause the disorder in their children. Diagnosis typically involves blood and urine tests to measure porphyrin levels, and management focuses on avoiding triggers and alleviating symptoms.