Porphyria: Where's the good info?

Originally Published: January 23, 2004 - Last Updated / Reviewed On: August 15, 2014
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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 diseases that are usually inherited from a parent. The porphyrias all have the same basic issue: 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. Prevalence rates of this condition are unknown and vary among geographic locations. What is known is that there are two types of porphyria: acute and cutaneous. While these two types do share some symptoms, they also have a specific set all their own.  

Acute porphyria affects the nervous system. Symptoms can be severe, but don’t tend to last long, including:

  • pain in abdomen, chest, back, and limbs
  • vomiting
  • heart palpitations
  • high blood pressure
  • constipation
  • inability to fully empty bladder
  • muscle pain, numbness, and weakness
  • seizures
  • personality or mental changes including hallucinations, paranoia, anxiety, or restlessness
  • red or brown urine (due to the presence of porphyrins)

For those who have cutaneous porphyria, symptoms primarily affect the skin and typically occur as a result of sun exposure. Symptoms tend to be on-going, which include:

  • slow healing blisters
  • scaring, swelling, and skin redness
  • itching

While many tests may be involved in the diagnosis and treatment of porphyria, urine, blood, and stool samples are most often used. Some health care providers may also recommend genetic testing. There is no cure for porphyria, but treatments can ease the discomfort of any symptoms.

In the case of acute porphyria, medication may be prescribed for pain, as well as intravenous fluids and sugars. Hemin injections may be used to limit porphyrin production in the body. Though rare, if symptoms of an acute case are severe enough, a liver transplant may be recommended (because treatment involves reducing how much porphyrins are produced by the liver).

Depending on the specific type of cutaneous porphyria, treatment may include therapeutic phlebotomy treatments (to remove or limit porphyrins in the body), blood transfusions, medications, removal of the spleen, liver transplant, or bone marrow transplant. Certain vitamins and mineral supplements may be recommended as well.

In either type of porphyria, avoiding certain triggers may help decrease the symptoms. Some of these triggers include:

  • certain drugs, such as barbiturates, certain hormonal medications, tranquilizers, and sedatives
  • low calorie intake (via dieting or fasting)
  • smoking or alcohol use
  • sun exposure
  • infections
  • major surgery
  • emotional stress

If you’d like learn more about this condition, you’re in luck — there are several reliable sources at your fingertips (assuming you’re in front of a computer right now!). Consider checking out the following websites:

American Porphyria Foundation

National Digestive Diseases Information Clearinghouse

National Human Genome Research Institute

Hope this helps!

Alice