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Porphyria

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

 

Porphyrias are a group of rare inherited disorders. An important part of hemoglobin , called heme, is not made properly. Heme is also found in myoglobin, a protein found in certain muscles.

Causes

 

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

Porphyria is inherited. This means the disorder is passed down through families.

 

Symptoms

 

Porphyria causes three major symptoms:

  • Abdominal pain or cramping (only in some forms of the disease)
  • Sensitivity to light that can cause rashes, blistering, and scarring of the skin (photodermatitis)
  • Problems with the nervous system and muscles (seizures, mental disturbances, nerve damage)

Attacks can occur suddenly. They often start 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. The scarring may be disfiguring. Urine may turn red or brown after an attack.

Other symptoms 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:

  • Low blood pressure
  • Severe electrolyte imbalances
  • Shock

 

Exams and Tests

 

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

 

Treatment

 

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

  • Hematin given through a vein ( intravenously )
  • Pain medicine
  • Propranolol to control the heartbeat
  • Sedatives to help you feel calm 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

 

Outlook (Prognosis)

 

Porphyria is a life-long disease with symptoms that come and go. Some forms of the disease cause more symptoms than others. Getting proper treatment and staying away from triggers can help lengthen the time between attacks.

 

Possible Complications

 

Complications may include:

  • Coma
  • Gallstones
  • Paralysis
  • Respiratory failure (due to weakness of chest muscles)
  • Scarring of the skin

 

When to Contact a Medical Professional

 

Get medical help 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

 

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

 

 

Open References

References

Fuller SJ, Wiley JS. Heme biosynthesis and its disorders. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and Practice . 6th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 36.

Hift RJ. The porphyrias. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 210.

 
  • Porphyria cutanea tarda on the hands

    Porphyria cutanea tarda on the hands - illustration

    Porphyria cutanea tarda can be inherited as a dominant trait or acquired due to liver disease. Sun exposed areas develop blistering (vesicles and bullae), erosions and ulcerations, fragile skin, pigmentary changes, and scarring.

    Porphyria cutanea tarda on the hands

    illustration

    • Porphyria cutanea tarda on the hands

      Porphyria cutanea tarda on the hands - illustration

      Porphyria cutanea tarda can be inherited as a dominant trait or acquired due to liver disease. Sun exposed areas develop blistering (vesicles and bullae), erosions and ulcerations, fragile skin, pigmentary changes, and scarring.

      Porphyria cutanea tarda on the hands

      illustration

    Tests for Porphyria

     
       

      Review Date: 2/13/2015

      Reviewed By: Rita Nanda, MD, Assistant Professor of Medicine, Section of Hematology/Oncology, University of Chicago Medicine, Chicago, IL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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