Porphyria

Porphyria is a group of disorders that can cause nerve or skin problems.

A porphyria that affects the skin is called cutaneous porphyria. A porphyria that affects the nervous system is called acute porphyria.

The most common type of porphyria is porphyria cutanea tarda (PCT), which affects the skin. PCT is also the most treatable.

No known cure exists for any type of porphyria.

Symptoms of Acute Porphyria

The symptoms of acute porphyria can develop quickly and last for days or weeks. A salt imbalance sometimes accompanies an episode of this type of porphyria. The imbalance can contribute to some of these symptoms:

Long-term complications in some patients have included:

Symptoms of Cutaneous Porphyria

Symptoms of cutaneous porphyria occur when the skin is exposed to sunlight. The most commonly affected areas include the back of the:

  • Hands
  • Forearms
  • Face
  • Ears
  • Neck

The symptoms include:

  • Blisters
  • Itching
  • Swelling of the skin
  • Pain
  • Increased hair growth
  • Darkening and thickening of the skin

Causes of Porphyria

Each type of porphyria has the same root cause -- a problem in the production of heme. Heme is a component of hemoglobin. That's a protein in red blood cells that carries oxygen from the lungs to the rest of the body.

Heme contains iron and gives blood its red color. The production of heme takes place in the liver and bone marrow and involves many different enzymes. A shortage of any of those enzymes can create an excess buildup of certain chemical compounds involved in producing heme. The specific type of porphyria is determined by which enzyme is lacking.

Most types of porphyria are inherited. Most of those occur when one altered gene is passed from just one parent. The risk of developing a porphyria or passing it to your children depends on the specific type.

Porphyria cutanea tarda, on the other hand, is often an acquired disease. Although the enzyme deficiency that causes PCT can be inherited, most people who inherit it never develop symptoms. Instead, the disease becomes active when the deficiency is triggered by certain conditions or lifestyle choices. These include:

Episodes of acute porphyria, which very rarely occur before puberty, can be triggered by some drugs. These include:

Other potential triggers include:

  • Fasting
  • Smoking
  • Drinking alcohol
  • Infections
  • Menstrual hormones
  • Stress
  • Sun exposure

 

Continued

Treatment of Porphyria

Outbreaks of symptoms of acute porphyria often require hospitalization. Patients may be given medicine for pain, nausea, and vomiting. They will also often receive glucose or hemin (Panhematin) injections. Panhematin is the only heme therapy approved for use in the U.S.

Severe attacks of acute porphyria can cause lasting nerve damage and muscle weakness that can take months to resolve.

Treatment of cutaneous porphyria depends on the specific type and the severity of the symptoms.

Treatment of porphyria cutanea tarda can include:

  • Regular blood removal (phlebotomies) to reduce the amount of iron in the liver
  • Low doses of the antimalarial drug chloroquine or hydroxychloroquine
  • Avoidance of triggers
  • Treatment of any underlying condition such as HIV or hepatitis C

 

Diagnosis of Porphyria

Blood, urine, and stool tests are performed to diagnose porphyria. The best time to be tested is during an outbreak of symptoms or around the time of them.

Sometimes multiple tests will be required before the diagnosis of a particular type of porphyria is possible. Because porphyria often runs in families, other family members can be tested and counseled after a positive diagnosis.

WebMD Medical Reference Reviewed by Melinda Ratini, DO, MS on August 16, 2017

Sources

SOURCES:

National Human Genome Research Institute: "Learning about Porphyria."

NIH Rare Diseases Clinical Research Network: "Porphyria Overview," "Treatment and Prevention," "Acute Intermittent Porphyria," "Frequently Asked Questions"

American Porphyria Foundation: "Porphyria Cutanea Tarda," "Congenital Erythropoietic Porphyria (CEP)," "Variegate Porphyria (VP)," "Hepatoerythropoietic Porphyria (HEP)," "ALAD-Deficiency Porphyria (ADP)," "About Porphyria."

Genetic and Rare Diseases Information Center: "Porphyria Cutanea Tarda."

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