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Spotlight on Porphyria

separator Porphyria is group of six metabolic disorders that result when the body has difficulty producing “heme,” a substance found in the blood, bones, liver and other tissue. There are many different enzymes needed for heme production. If any of these enzymes is abnormal, heme production is interrupted. Substances called porphyrins build up and are excreted in the urine and stool.

The six types of porphyria are

  1. Acute intermittent porphyria (AIP)
  2. Hereditary coproporphyria
  3. Variegate porphyria
  4. Erythropoietic protoporphyria
  5. Porphyria cutanea tarda
  6. Congenital erythropoietic protoporphyria

Symptoms of porphyria
Porphyria is an inherited disorder, and some people who test positive for the gene that causes it have no symptoms. Porphyria disorders generally affect the skin and the nervous system. Often, the symptoms present themselves during an “attack,” and can include:

  • Pain and tenderness in the abdomen
  • Respiratory failure
  • Delirium, confusion, agitation, hallucination
  • Loss of appetite
  • Nausea and vomiting
  • Constipation
  • Painful urination
  • Diarrhea
  • Skipping your menstrual period
  • Muscle weakness
  • Pain in the arms, legs, hips or lower back
  • Muscle weakness
  • Abnormal walking pattern
  • Depression
  • Irritability
  • Seizure
  • Darkening of the skin
  • Blistering of the skin
  • Sensitivity of he skin to light

As you can see, the symptoms of porphyria are wide-ranging. That, plus the fact that porphyria is not familiar to many doctors, can make it difficult to diagnose. If you have had some of the symptoms listed above, and your doctor has had a difficult time diagnosing your condition, you may want to ask whether it’s possible that you have porphyria.

Identifying triggers is important
There is currently no cure for porphyria, but many people are able to control and manage it by identifying and then avoiding the triggers that cause the attacks. Medications can trigger attacks, as can alcohol. So if you have porphyria, it’s important to make a list of all of your activities and all of the medications you took before you had an attack. Take note of whether you had alcohol as well.

The American Porphyria Foundation; The Canadian Porphyria Foundation; The National Institute for Diabetes and Digestive and Kidney Disorders.
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