What is the treatment for Porphyria

What is the treatment for Porphyria?

What is the treatment for Porphyria?

Porphyrias comprise various conditions, each stemming from a distinct anomaly in heme synthesis. Heme, a compound containing iron and responsible for the red hue of blood, is central to these disorders.


Porphyrias are predominantly hereditary conditions. In certain instances, porphyria arises from inheriting a single abnormal gene from one parent, while other forms result from inheriting two abnormal genes, one from each parent. Porphyria cutanea tarda, however, is primarily an acquired disorder. It occurs when factors unrelated to genetics induce an enzyme deficiency in the liver. Triggers for porphyrias include various drugs like tranquilizers, birth control pills, and sedatives, exposure to chemicals, excessive alcohol consumption, smoking, elevated iron levels in the body, stress, menstrual hormones, and sunlight exposure.


Symptoms of porphyria differ depending on the type. In certain cases, the skin becomes highly sensitive to sunlight, leading to redness, blistering, and potential scarring upon exposure. Acute porphyrias, in particular, may impact the nervous system. This involvement can manifest as chest pain, abdominal pain, seizures, and muscle weakness, with symptoms lasting from days to weeks.


Treatment for porphyrias varies based on whether it’s acute or cutaneous. Acute porphyrias management centers on symptom alleviation and complication prevention. This involves discontinuing medications that may have triggered symptoms, administering intravenous sugar or fluids to address dehydration, and providing hemin injections. Cutaneous porphyrias offer different treatment avenues, including phlebotomy (blood drawing), medication (typically anti-malarial drugs), beta-carotene supplementation, trigger reduction or elimination, and vitamin D supplementation to counteract deficiencies.