| Originally Published: January 23, 2004
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Dear Alice,

Where can I find good information on Porphyria?

Dear Reader,

Porphyria is actually the name for a group of at least eight different inherited diseases. The porphyrias all have the same basic problem: a defect that affects the production of heme. Heme is the iron-containing component of hemoglobin, the oxygen-carrying element of red blood cells. When heme production is disturbed, there is a build-up of substances called "porphyrins" or of the chemicals that are the building blocks of porphyrins. Each of the types of porphyria has its own set of statistics regarding the age that symptoms begin, the percentage of the population affected, and the male-to-female ratio of affected individuals.

Although the specific problems caused by porphyria depend on what substances accumulate, the main body systems affected by porphyria are the skin and the nervous system. Porphyria attacks may last for days or weeks. Some of the more common symptoms of a porphyria episode include:

  • red urine (due to the presence of porphyrins)
  • skin sensitivity to sun, with rash, blisters, thickening, scarring, redness, fragility, darkening
  • bouts of severe abdominal pain, nausea, vomiting
  • muscle pain
  • numbness or tingling in limbs, hands, feet
  • personality changes
  • anemia

Tests on urine and stool are used to diagnose porphyria, by identifying the abnormal accumulation of porphyrins or their chemical building blocks.

Various medical providers treat porphyria, including specialists in liver and digestive tract disorders (gastroenterologists), blood diseases (hematologists), and metabolic conditions (endocrinologists). Depending on the individual patient's specific symptoms, other medical specialists may need to be involved, such as a neurologist to treat symptoms of the nervous system, a cardiologist to treat high blood pressure, or a psychiatrist to treat mental health symptoms.

Although there is no cure for porphyria, treatments can ease the discomfort of an acute episode. Medication may be prescribed for pain and high blood pressure, as well as intravenous fluids, sugars, and salts.

Avoiding certain triggers may help decrease the frequency and/or severity of acute attacks. Some of these triggers include:

  • drugs
    • barbiturates
    • sulfa-containing antibiotics
    • progesterone
    • some epilepsy medications
  • low calorie intake
  • cigarette smoke
  • alcohol
  • exposure to sun
  • infections
  • major surgery

Several reliable sources of information about porphyria include: