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.
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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 your 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.
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
- Protecting the skin 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.
Prevention
There are no known guidelines to prevent these rare disorders.
RESOURCES:
American Liver Foundation
http://www.liverfoundation.org
National Institute of Diabetes and Digestive and Kidney Diseases
http://www2.niddk.nih.gov
CANADIAN RESOURCES:
Canadian Liver Foundation
http://www.liver.ca
Canadian Organization for Rare Disorders
http://www.raredisorders.ca
REFERENCES:
About porphyria. The American Porphyria Foundation website. Available at: https://porphyriafoundation.org/for-patients/about-porphyria. Accessed March 2, 2021.
Acute porphyria. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/acute-porphyria. Accessed March 2, 2021.
Karim Z, Lyoumi S, et al. Porphyrias: A 2015 update. Clin Res Hepatol Gastroenterol. 2015 Sep;39(4):412-425.
Porphyria. National Institute of Diabetes and Digestive and Kidney Diseases website. Available at: https://www.niddk.nih.gov/health-information/liver-disease/porphyria. Accessed March 2, 2021.
Porphyria cutanea tarda (PCT). EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/porphyria-cutanea-tarda-pct. Accessed March 2, 2021.
Last reviewed December 2020 by EBSCO Medical Review Board Kari Kassir, MD Last Updated: 3/3/2021