Porphyria (patient information)

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Porphyria
ICD-10 E80.0-E80.2
ICD-9 277.1
MedlinePlus 001208
MeSH C17.800.849.617

Porphyria

Overview

What are the symptoms?

Who is at highest risk?

Diagnosis

When to seek urgent medical care?

Treatment options

Diseases with similar symptoms

Where to find medical care for Porphyria?

Prevention

What to expect (Outlook/Prognosis)?

Porphyria On the Web

Ongoing Trials at Clinical Trials.gov

Images of Porphyria

Videos on Porphyria

FDA on Porphyria

CDC on Porphyria

Porphyria in the news

Blogs on Porphyria

Directions to Hospitals Treating Porphyria

Risk calculators and risk factors for Porphyria

For the WikiDoc page for this topic, click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

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.

What are the symptoms of Porphyria?

Porphyrias involve three major symptoms:

Attacks can occur suddenly, usually with severe abdominal 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:

  • Muscle pain
  • Muscle weakness or paralysis
  • Numbness or tingling
  • Pain in the arms or legs
  • Pain in the back
  • Personality changes

Attacks can sometimes be life threatening, producing:

What causes Porphyria ?

Normally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. Patients with porphyria have a 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.

Diagnosis

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 or others) 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:

  • Blood gases
  • Comprehensive metabolic panel
  • Porphyrin levels and levels of other chemicals linked to this condition (often checked in the urine)
  • Ultrasound of the abdomen
  • Urinalysis

When to Contact a Medical Professional ?

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.

Treatment

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

  • Hematin given through a vein intravenously
  • Pain medication
  • Propranolol to control the heartbeat
  • Sedatives to help you feel sleepy and less anxious

Other treatments may include:

  • Beta-carotene supplements
  • Chloroquine
  • Fluids and glucose to boost carbohydrate levels, which helps limit the production of porphyrins
  • Removal of blood (phlebotomy)

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

  • Avoid all alcohol
  • Avoid drugs that may trigger an attack
  • Avoid injuring the skin
  • Avoid sunlight as much as possible and use sunscreen when outside
  • Eat a high-carbohydrate diet

Medications to avoid

Patients diagnosed with porphyria should avoid using the following medications:

  • Butabarbital
    If you have been diagnosed with porphyria, consult your physician before starting or stopping any of these medications.


Prevention of Porphyria

Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.

What to expect (Outlook/Prognosis)?

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 prolong the time between attacks.

Possible complications

References

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