Pronounced: por-fir-E-ah
The term porphyria refers to a group of disorders. They do differ in some ways, but all share the same problem. They all have a build up of porphyrins in the body. Porphyrins help to make heme a part of the red blood cell. However, a build up of the porphyrins in the body cause damage. It most often affects the nervous system and skin.
Some porphyria disorders include:
Some types of porphyria start in early childhood, some at puberty, and others during adulthood. Attacks may be separated by long periods of time. The attacks can be triggered by drugs, infections, alcohol consumption, and dieting.
Most types of porphyrias are inherited through genes. They may be passed on by one or both parents.
Factors that may increase you chance of porphyria:
Porphyria can cause skin or nervous system problems. Urine from some may be reddish in color. This is due to the presence of excess porphyrins. The urine may darken after standing in the light. Specific symptoms depend on the type.
Nervous system symptoms occur most often after puberty. Nerves of the intestines can cause gastrointestinal problems. Attacks can last from days to weeks. Symptoms of future attacks resemble the initial episode and may include:
This is the most common porphyria. Most are not inherited. They are acquired at some point.
Symptoms may include:
Symptoms may include:
This form is extremely rare.
Symptoms may include:
The doctor will ask about any symptoms. A medical and family history will be taken. A physical exam will also be done.
The symptoms can be very vague. As a result, the diagnosis is often delayed.
Tests differ for the various types. They may include blood, urine, and/or stool tests. These tests check for excess porphyrin or a specific enzyme deficiency. In some cases specific genetic testing may be available as well.
For all types of porphyria, treatment includes the following:
Porphyria that affects the skin require special attention to protect the skin from injury and/or infection.
Specific treatment depends on the type of porphyria.
You may need to be hospitalized during an attack. In the hospital, you may be given the following:
Treatment may include:
Treatment may include:
Treatment may include:
Genetic testing may identify people at risk for porphyria. If there are people in your family with the diagnosis of porphyria, you may be eligible for testing. If the family member has had a test that showed DNA changes, that change can be looked for in you.
A genetic counselor can review your family history. The counselor will help find the risks for this disorder in you and your offspring. They will also discuss appropriate testing for you.
Genetic mutation cannot be corrected. However, attacks can be anticipated, prevented, or controlled. Steps to avoid porphyria attacks and complications include the following:
Triggers for porphyria include:
RESOURCES:
American Liver Foundation
http://www.liverfoundation.org/
National Institute of Diabetes and Digestive and Kidney Diseases
http://www2.niddk.nih.gov/
National Organization for Rare Disorders, Inc.
http://www.rarediseases.org/.
CANADIAN RESOURCES:
Canadian Liver Foundation
http://www.liver.ca/Home.aspx
Canadian Organization for Rare Disorders
http://www.cord.ca/
References:
The American Phorphyria Foundation website. Available at: http://porphyriafoundation.com .
Beers MH. The Merck Manual of Medical Information . Home Edition, 2nd ed. Simon and Schuster, Inc; 2003.
Cecil Textbook of Medicine . 21st ed. WB Saunders Co; 2000.
Conn's Current Therapy 2001 . 53rd ed. WB Saunders Co; 2001.
Goldman L. Cecil Textbook of Medicine . 22nd ed. Philadelphia, PA: Saunders; 2004.
Harrison's Principles of Internal Medicine . 14th ed. The McGraw-Hill Companies; 2000.
Medline Plus website. Available at: http://www.nlm.nih.gov/medlineplus/porphyria.html .
Last reviewed January 2009 by Igor Puzanov, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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