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Porphyria

Porphyria cutanea tarda; Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria

Porphyrias are a group of rare inherited disorders. An important part of hemoglobin, called heme, is not made properly. Hemoglobin is a protein in red blood cells that carries oxygen. Heme is also found in myoglobin, a protein found in certain muscles.

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Porphyria cutanea tarda on the hands

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Causes

Normally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. People 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.

Porphyria is inherited. This means the disorder is passed down through families.

Symptoms

Porphyria causes 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 include:

Attacks can sometimes be life threatening, producing:

Exams and Tests

Your health care provider will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The provider 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. Some of the other tests that may be done include:

Treatment

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 provider may tell you to:

Support Groups

More information and support for people with porphyria and their families can be found at:

Outlook (Prognosis)

Porphyria is a life-long disease 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.

Possible Complications

Complications may include:

When to Contact a Medical Professional

Get medical help as soon as you have signs of an acute attack. Talk to your provider about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight.

Prevention

Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.

Related Information

Hemoglobin
Photophobia
Rashes
Abdominal pain
Acute
Numbness and tingling
Weakness
Muscle function loss
Muscle aches
Comprehensive metabolic panel
Shock
Vesicles
Swelling
Gallstones
Decreased alertness

References

Balwani M, Desnick RJ, Anderson KE. The porphyrias. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 110.

Dinulos JGH. Light-related diseases and disorders of pigmentation. In: Dinulos JGH, ed. Habif's Clinical Dermatology. 7th ed. Philadelphia, PA: Elsevier; 2021:chap 19.

Fuller SJ, Wiley JS. Heme biosynthesis and its disorders: porphyrias and sideroblastic anemias. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 38.

Hift RJ. The porphyrias. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 199.

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Review Date: 1/19/2021  

Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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