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.
Abdominal pain or cramping (only in some forms of the disease)
Sensitivity to light that can cause rashes, blistering, and scarring of the skin (photodermatitis)
Problems with the nervous system and muscles (seizures, mental disturbances, nerve damage)
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:
Muscle weakness or paralysis
Numbness or tingling
Pain in the arms or legs
Pain in the back
Attacks can sometimes be life threatening, producing:
Low blood pressure
Severe electrolyte imbalances
Exams and Tests
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.
Respiratory failure (due to weakness of chest muscles)
Scarring of the skin
When to Contact a Medical Professional
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.
Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, Bethanne Black, Stephanie Slon, and Nissi Wang.