Porphyria: A Rare, Complicated, and Misdiagnosed Disease

Diagnosis of porphyria is often difficult due to the range of symptoms, which are common in many other disorders, hence frequently leading to misdiagnosis. Attacks can be triggered through sunlight and contact with diverse substances, including medications. Signs are severe, appear quickly, and tend to last from days to weeks, affecting the skin, mentation, the digestive, cardiovascular, nervous, and muscular system. Neuropathy signifies a severe and potentially life-threatening attack. Porphyria is mainly an inherited disorder, but can be acquired, and emerges in adults and children. The exact rates of porphyria are unknown and vary around the world. Diagnosis, clinical presentation, treatment, and disease management are introduced.