Medical Encyclopedia

 

Medical Encyclopedia

Other encyclopedia topics:  A-Ag  Ah-Ap  Aq-Az  B-Bk  Bl-Bz  C-Cg  Ch-Co  Cp-Cz  D-Di  Dj-Dz  E-Ep  Eq-Ez  F  G  H-Hf  Hg-Hz  I-In  Io-Iz  J  K  L-Ln  Lo-Lz  M-Mf  Mg-Mz  N  O  P-Pl  Pm-Pz  Q  R  S-Sh  Si-Sp  Sq-Sz  T-Tn  To-Tz  U  V  W  X  Y  Z  0-9 

Porphyria

Contents of this page:

Illustrations

Porphyria cutanea tarda on the hands
Porphyria cutanea tarda on the hands

Alternative Names    Return to top

Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria

Definition    Return to top

Porphyrias are a group of rare disorders passed down through families, in which an important part of hemoglobin, called heme, is not made properly. Heme is also found in myoglobin, a protein found in certain muscles.

Causes    Return to top

Normally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. Patients with poryphyria have a lack (deficiency) of certain enzymes needed for this process. This causes abnormal amounts of porphyrins (or related chemicals) to build up in the body.

There are many different forms of porphyria. The most common type is porphyria cutanea tarda (PCT).

Drugs, infection, alcohol, and hormones such as estrogen may trigger attacks of certain types of porphyria.

Symptoms    Return to top

Porphyrias involve three major symptoms:

Attacks can occur suddenly, usually with severe stomach pain followed by vomiting and constipation. Being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. They may be disfiguring. Urine may turn red or brown after an attack.

Other symptoms may include:

Attacks can sometimes be life threatening, producing severe electrolyte imbalances, low blood pressure, and shock.

Exams and Tests    Return to top

Your doctor will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The doctor may find that your deep tendon reflexes (knee jerks) do not work properly.

Blood and urine tests may reveal kidney problems or other problems. Special tests can measure porphyrins in the blood.

Some of the other tests that may be done include:

Treatment    Return to top

Some of the medicines used to treat a sudden (acute) attack of porphyria may include:

Other treatments may include:

Depending on the type of porphyria you have, your doctor may tell you to:

Outlook (Prognosis)    Return to top

Porphyrias are life-long diseases with symptoms that come and go. Some forms of the disease cause more symptoms than others. Proper treatment and avoidance of triggers can help reduce the time between attacks.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

Seek medical attention as soon as you have signs of an acute attack. Talk to your doctor about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight.

Prevention    Return to top

Genetic counseling may be of benefit to prospective parents with a family history of any type of porphyria.

References    Return to top

Anderson K. The porphyrias. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 229.

Update Date: 3/2/2009

Updated by: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M. Logo

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 1997-2009, A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.