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.
Porphyria cutanea tarda; 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. 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.
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:
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:
Eliane Sardh is in Stockholm, Sweden. Sardh is rated as an Elite expert by MediFind in the treatment of Porphyria. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Acute Hepatic Porphyria, Porphyria, Acute Intermittent Porphyria, and Hereditary Coproporphyria.
Pauline Harper is in Stockholm, Sweden. Harper is rated as an Elite expert by MediFind in the treatment of Porphyria. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Porphyria, Acute Hepatic Porphyria, Acute Intermittent Porphyria, and Variegate Porphyria.
Robert Desnick is in New York, New York. Dr. Desnick is rated as an Elite doctor by MediFind in the treatment of Porphyria. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are Porphyria, Acute Intermittent Porphyria, Acute Hepatic Porphyria, and Congenital Erythropoietic Porphyria. He is licensed to treat patients in New York. Dr. Desnick is currently accepting new patients.
More information and support for people with porphyria and their families can be found at:
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.
Complications may include:
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.
Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.
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.