Loading icon
Health Information Center

Porphyria

Authors:
  • Cynthia M. Johnson, MA
Publication Type:

Condition

Porphyria

Definition

Porphyria is a group of rare disorders that lead to a buildup of chemicals called porphyrins in the body. Porphyrins help to make a part of the red blood cell. Excess amounts can cause damage to the body.

These disorders are divided into two groups. The acute types affect the nervous system. The cutaneous types affect the skin.

Hemoglobin Transporting Oxygen.

Copyright © 2002 Nucleus Communications, Inc. All rights reserved.

Hemoglobin - anemiahttp://services.epnet.com/getimage.aspx?imageiid=23982398si55551170.jpgHemoglobinNULLjpgHemoglobin - anemiaNULL\\filer01\Intellect\images\si55551170.jpgCopyright © 2002 Nucleus Communications, Inc. All rights reserved.29NULL2002-10-012553912398_22484Copyright © Nucleus Medical Media, Inc.

Causes

Most types are caused by faulty genes. They may be passed on by one or both parents.

Risk Factors

This problem is more common in women 20 to 40 years of age. It is also more common in people who have a family member with the disorder.

Symptoms

The symptoms a person has depend on the type of the disorder a person has. A common symptom is urine that may be dark or reddish brown in color.

The acute types affect the nervous system. Some types may also cause skin blisters when exposed to sunlight. Problems may be mild to severe and last days or weeks. Symptoms are:

  • Pain in the belly, back, arms, or legs
  • Constipation
  • Nausea and vomiting
  • Mental health problems
  • Confusion
  • Sensing things that are not based in reality
  • Seizures
  • Muscle weakness
  • Problems moving
  • Breathing problems
  • Problems passing urine

The cutaneous types affect the skin. Symptoms often get worse when the skin is exposed to sunlight. Problems may be:

  • Blisters
  • Skin that is easily damaged or slow to heal
  • Scarring
  • Changes in skin color
  • Pain, burning, stinging, or tingling
  • Redness and swelling

Some things that may trigger symptoms are:

  • Sun exposure
  • Drugs
  • Certain medicines
  • Alcohol use
  • Smoking
  • Low levels of carbohydrates due to dieting or fasting
  • Stress
  • Infections

Diagnosis

The doctor will ask about symptoms and health history. A physical exam will be done.

The doctor will look for porphyrins in the body. This can be done with:

  • Blood tests
  • Urine tests
  • Stool tests

Treatment

There is no cure. Treatment depends on the type of the disorder a person has and the problems it is causing. The goal of treatment is to manage symptoms and prevent future attacks.

Prevention

There are no known guidelines to prevent these rare disorders.

Acute Porphyrias

These types are often treated in the hospital. Choices are:

  • Monitoring and treatment for side effects like heart problems, breathing problems, and seizures
  • IV glucose to increase carbohydrates
  • Medicine to decrease porphyrins in the body
  • Identifying and avoiding triggers to prevent future attacks

People who have repeated, severe attacks and those who are not helped by other methods may need a liver transplant.

Cutaneous Porphyrias

These types may be treated with:

  • Weekly or monthly blood removal to decrease porphyrins in the body
  • Medicine to decrease porphyrins in the body
  • Skin protection from sun exposure and identifying and avoiding other triggers to prevent future attacks

Children with severe symptoms of a certain type of cutaneous porphyria may need a bone marrow transplant.

RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • About porphyria. The American Porphyria Foundation website. Available at: https://porphyriafoundation.org/for-patients/about-porphyria.
  • Acute porphyria. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/acute-porphyria.
  • Porphyria. National Institute of Diabetes and Digestive and Kidney Diseases website. Available at: https://www.niddk.nih.gov/health-information/liver-disease/porphyria.
  • Porphyria cutanea tarda (PCT). EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/porphyria-cutanea-tarda-pct.

Contributors

  • Kari Kuenn, MD
Last Updated:
2022-09-01

(C) Copyright 2022 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.