What is porphyria?
Q: I am a concerned grandmother writing about my 11-year-old granddaughter. She was diagnosed with porphyria at the age of 2. Her hands and feet start hurting so badly that she has to put them in cold bath water for about an hour. She says it feels like needles running though her. Any information you can provide would be greatly appreciated.
A: Porphyria refers to a group of disorders that causes a buildup of porphyrins (one of the components that makes heme, which is needed to make hemoglobin). It is typically treated by a hematologist (blood specialist).
The exact prevalence of these conditions is unknown, but, according to the Genetic Home Reference (www.ghr.nlm.nih.gov), it is likely that the disease affects between 1-in-500 to 1-in-50,000 people worldwide. Cutaneous porphyria symptoms include itching, red urine, blisters, painful skin redness and swelling. Acute symptoms include fever, paranoia, vomiting, abdominal pain, diarrhea, constipation, confusion, hallucinations, high blood pressure, seizures, red urine, disorientation, muscle pain/tingling/numbness/weakness/paralysis, and pain in the arms, legs or back. Acute attacks are rare before puberty and after menopause. Cutaneous attacks can begin as early as infancy.
Most cases of porphyria are inherited; however, just having one of the genetic mutations responsible does not mean that the person will develop the disorder.
Treatment depends on the severity of symptoms, type of porphyria and more. Acute porphyria is treated primarily by eliminating symptoms with pain medication, IV fluids and glucose to combat dehydration, the maintenance of adequate carbohydrate intake, prompt treatment of infections, and injections of hemin or hematin, which help the body produce heme and reduce levels of porphyrins.
There are certain steps that sufferers can take to reduce the number of attacks they have, such as minimizing exposure to sunlight, using sunscreen and protective clothing whenever outside, reducing stress, avoiding smoking and alcohol, and treating infections and other illnesses promptly.
Your granddaughter likely has a skin manifestation of the condition. She should be under the care of a pediatric hematologist familiar with the disorder.
Ask Dr. Gott
