Considered rare, Porphyria is the term for certain skin or nervous system disorders that result from the accumulation of natural chemicals within the body that produce porphyrin (biological pigments) that help hemoglobin transport oxygen to organs and tissues. Too much of these pigments can create an internal imbalance and produce an assortment of symptoms.
Porphyrias and Heme
Blood gets its red color from the production of a substance called heme, which is primarily made in the liver and bone marrow (tissue inside bones). With a porphyria, biological pigments aren’t made into a red pigment called heme. In the form of hemoglobin, it helps break down medications and other substances that need to be processed for the liver to function.
Causes of Porphyrias
Porphyria disorders are often inherited. It’s not known why the body sometimes fails to complete the process of transforming porphyrins into heme. Environmental factors may also contribute to the development of some porphyrias or trigger the onset of symptoms.
Inherited porphyrias may be triggered by:
Blood, urine, and stool tests usually determine if a porphyria is the cause of a patient’s presented symptoms. Some porphyrias are treated with the IV delivery of heme or a glucose blend in oral or IV form. In rare cases, a liver transplant may be recommended. Other porphyrias are treated by avoiding identified triggers or treating the contributing condition.
Porphyrias often require long-term treatment to manage resulting symptoms. Acute porphyrias affect various organs and the central nervous system and may result in abdominal pain. Cutaneous porphyrias mostly affect the skin and may cause itching or over-sensitivity to sunlight. Symptom triggers applying to all porphyrias typically include alcohol, smoking, stress, some medications, sunlight exposure, and dieting or fasting.