Porphyrias Learning Center

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Welcome

Porphyria is a group of inherited disorders involving abnormalities in the production of heme pigments (the base material responsible for hemoglobin (red blood cell pigment), myoglobin (reddish muscle cell pigment), and...

Basic Info

Symptoms
Porphyrias involve three major symptoms: Abdominal pain or cramping (occurs in only some forms of the disease; Light ...
Causes
Normally, the body breaks down chemicals, called porphyrins, into heme. The porphyrins leave the body through urine o...
Tests
Your doctor will perform a physical exam, which includes listening to your heart. You may have tachycardia. The docto...
Treatments
Some of the medicines used to treat a sudden (acute) attack of porphyria may include: Hematin given through a vein (i...
Alternative Therapies
Under normal circumstances, when heme concentrations are at an appropriate level, precursor production decreases. How...
Risk Factors
Complications
Coma; Gallstones; Lung failure; Loss of movement (paralysis) that gets worse; Scarring of the skin.
Prevention
Genetic counseling may be of benefit to prospective parents with a family history of any type of porphyria.
Doctor Specialties
Seek medical attention as soon as you have signs of an acute attack. Talk to your doctor about your risk for this con...

Basic Info

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