The porphyria disorders can be grouped by symptoms--whether they affect the skin or the nervous system. 

Cutaneous porphyries affect the skin. People with cutaneous porphyria develop blisters, itching, and swelling of their skin when it is exposed to sunlight. 

Acute porphyries affect the nervous system. Symptoms of acute porphyria include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms appear intermittently.

Causes

The porphyrias are inherited conditions, and the genes for all enzymes in the heme pathway have been identified. Some forms of porphyria result from inheriting an abnormal gene from one parent (autosomal dominant). Other forms are from inheriting an abnormal gene from each parent (autosomal recessive). The risk that individuals in an affected family will have the disease or transmit it to their children is quite different depending on the type.

Attacks of porphyria can develop over hours or days and last for days or weeks. Porphyria can be triggered by drugs (barbiturates, tranquilizers, birth control pills, sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual hormones, and exposure to the sun.

Diagnosis

Porphyria is diagnosed through blood, urine, and stool tests. Diagnosis may be difficult because the range of symptoms is common to many disorders and interpretation of the tests may be complex. Each form of porphyria is treated differently. Treatment may involve treating with heme, giving medicines to relieve the symptoms, or drawing blood. People who have severe attacks may need to be hospitalized.

For More Information

To learn more about this topic, visit:

American Porphyria Foundation

National Organization for Rare Disorders Inc. (NORD) 

American Liver Foundation