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Porphyrias are a group of rare disorders passed down through families. An important part of hemoglobin, called heme, is not made properly. Heme is also found in myoglobin, a protein found in certain muscles.
Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria
Normally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. Patients with porphyria are lacking certain enzymes needed for this process. This causes abnormal amounts of porphyrins or related chemicals to build up in the body.
There are many different forms of porphyria. The most common type is porphyria cutanea tarda (PCT).
Drugs, infection, alcohol, and hormones such as estrogen may trigger attacks of certain types of porphyria.
Porphyrias involve three major symptoms:
Attacks can occur suddenly. They often start with severe abdominal pain followed by vomiting and constipation. Being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. The scarring may be disfiguring. Urine may turn red or brown after an attack.
Other symptoms may include:
Attacks can sometimes be life threatening, producing:
Your doctor will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The doctor may find that your deep tendon reflexes (knee jerks or others) do not work properly.
Blood and urine tests may reveal kidney problems or other problems. Special tests can measure porphyrins in the blood.
Some of the other tests that may be done include:
Some of the medicines used to treat a sudden (acute) attack of porphyria may include:
Other treatments may include:
Depending on the type of porphyria you have, your doctor may tell you to:
Porphyrias are life-long diseases with symptoms that come and go. Some forms of the disease cause more symptoms than others. Getting proper treatment and staying away from triggers can help lengthen the time between attacks.
Get medical help as soon as you have signs of an acute attack. Talk to your doctor about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight.
Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.
Anderson K. The porphyrias. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 217.
Fuller SJ, Wiley JS. Heme biosynthesis and its disorders. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Saunders Elsevier; 2012:chap 36.