Porphyria

Porphyria is a group of rare genetic conditions that can cause severe skin symptoms and abdominal pain. It is caused by a deficiency in the enzymes needed to produce heme, a molecule that is essential for transporting oxygen in the body. The most common type of porphyria, acute intermittent porphyria, affects the nervous system, leading to neurological and psychological symptoms. Treatment usually involves avoiding triggers of the condition such as certain medications, supplements, and foods. People with Porphyria should be under the care of a healthcare team that is familiar with Porphyria and treatments. Improved understanding of the condition, its symptoms, and its treatments are important for providing quality care and improving quality of life for patients with Porphyria.