What is porphyria?

Porphyria the name used for a wide variety of disorders related to problems in producing the substance known as heme. Heme is an iron-rich molecule that is found primarily in hemoglobin in the blood, which carries oxygen to the entire body. When heme is not produced appropriately, chemicals known as porphyrins can build up in the body, leading to the disease called porphyria. Because the production of heme is complex and many individual processes can result in abnormal heme production, there are many types of porphyria. These many types can be broadly divided into two categories, acute and cutaneous.

Acute porphyrias affect the nervous system. These types of porphyria are mainly inherited or genetic. Symptoms, which occur sporadically, include abdominal pain, numbness or tingling, cramping, vomiting, and mental disorders. Acute porphyrias are treated with medication and, in some cases, hospitalization.

Cutaneous porphyrias affect the skin. Like acute porphyrias, they are primarily genetic in nature. Symptoms include blisters and swelling when the skin is exposed to sunlight. The primary treatment for cutaneous porphyria is the avoidance of sunlight.

Both types of porphyria are lifelong conditions that can range from mild, with no symptoms, to severe. Symptoms can be triggered by a variety of factors, including sunlight, drugs, stress, hormonal changes, smoking, and alcohol consumption. In porphyria cutanea tarda, a typically nonhereditary form of porphyria, liver enzyme levels involved with heme production are depleted, which can lead to the cutaneous symptoms of porphyria. Since porphyria is often inherited, genetic counseling may be helpful for people with porphyria.

In some cases, acute porphyria attacks can lead to immediately life-threatening symptoms, including paralysis of the muscles that control breathing. Seek immediate medical care (call 911) if you have seizures, hallucinations, difficulty breathing, severe anxiety, paralysis, or sudden weakness.


What are the symptoms of porphyria?

Although porphyria can often remain latent for years, your symptoms can occur sporadically or be triggered by stress, hormones, or substances such as alcohol, tobacco, and certain medications. Symptoms of porphyria include both cutaneous (skin-related) and generalized symptoms. Skin symptoms include blisters, changes in pigmentation, and breakdown of the skin when exposed to sunlight. This can ... Read more about porphyriasymptoms


What causes porphyria?

Porphyria is usually inherited. It occurs when one of the eight genes involved in the production of heme, the substance in hemoglobin that transports oxygen, has a mutation that is passed from parents to their children. Genetic counseling may be helpful for those with a family history of porphyria.

In addition to hereditary porphyria, one common subtype, porphyria cutanea tarda, a... Read more about porphyriacauses


How is porphyria treated?

Treatment for porphyria depends on the type of porphyria you have.

Treatment of acute porphyria

If you have cutaneous porphyria, treatment usually involves avoiding sunlight and, occasionally, using medications or intravenous heme.

If you have acute attacks of porphyria, several treatments can be used to control your neurological symptoms and defective hem... Read more about porphyriatreatments

Medical Reviewer: William C. Lloyd III, MD, FACS Last Annual Review Date: Sep 20, 2013 Copyright: © Copyright 2014 Health Grades, Inc. All rights reserved. May not be reproduced or reprinted without permission from Health Grades, Inc. Use of this information is governed by the HealthGrades User Agreement.

This Article is Filed Under: Heart, Blood and Circulation