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PORPHYRIA

General Information

DEFINITION--Any of a group of rare inherited disorders characterized by excessive formation and excretion of porphyrins (chemicals in all living things). This disease is often mistakenly attributed to emotions.

BODY PARTS INVOLVED--Central nervous system; skin; liver; digestive system.

SEX OR AGE MOST AFFECTED

  • Both sexes, but more common and severe in females.
  • All ages, but less likely in older adults.

SIGNS & SYMPTOMS

  • Chest or abdominal pain.
  • Mental changes, including depression and mania.
  • Skin changes, including itching and blistering.
  • Leg pain.
  • Muscle cramps and weakness.
  • Numbness and tingling in the feet and hands.

CAUSES--An inherited disturbance in the metabolism of porphyrins.

RISK INCREASES WITH

  • Family history of porphyria.
  • Use of drugs, such as birth-control pills, alcohol, barbiturates. These don't cause the disease, but they may trigger attacks.
  • Exposure to sunlight. This may trigger attacks.

HOW TO PREVENT

> Cannot be prevented at present. To reduce the frequency and severity of attacks:

    Avoid all drugs, including non-prescription medicines, until you talk with your doctor. Don't take birth-control pills. Avoid bright sunlight.

  • Any person with a family history of porphyria should seek genetic counseling before starting a family.

What To Expect

DIAGNOSTIC MEASURES--

  • Your own observation of symptoms.
  • Medical history and physical exam by a doctor.
  • Laboratory studies to measure porphyrins in the urine, blood and stool.

APPROPRIATE HEALTH CARE

  • Doctor's treatment.
  • Psychotherapy or counseling.
  • Hospitalization during attacks for supportive care.

POSSIBLE COMPLICATIONS

  • Many complications may be associated with this disorder. Most are reversible, but some may be permanent. The complications can cause physical symptoms and disorders as well as psychological problems.
  • If you are a woman and your disease is severe, pregnancy may not be advisable. Talk to your doctor.

PROBABLE OUTCOME--This condition is currently considered incurable, but many patients live a normal life-span with the disorder, especially those who have no symptoms or minor symptoms. For others, symptoms can be relieved or controlled. Scientific research into causes and treatment continues, so there is hope for increasingly effective treatment and cure.


How To Treat

GENERAL MEASURES--

  • Avoid bright sunlight. If you must be in bright sun, use a hat and protective clothing.
  • See Resources for Additional Information.

MEDICATION--

  • Don't take any medicine until you ask your doctor.
  • Your doctor may prescribe: Intravenous glucose or hemin (an enzyme-inhibitor derived from processed red blood cells) to help prevent or treat acute attacks. Tranquilizers to decrease anxiety. Medications to inhibit ovulation may help reduce premenstrual attacks. Beta-carotene to reduce photosensitivity.

ACTIVITY--No restrictions except for sunlight restrictions.

DIET--

  • High carbohydrate diet.
  • Avoid alcohol. It precipitates attacks.

Call Your Doctor If

  • You have symptoms of porphyria.
  • Dark urine or other symptoms of an attack recur.
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