Porphyria

Overview

Type of disease: Rare conditions

Porphyria is a type of disorder in which there is accumulation of normal body chemicals known as porphyrins. The accumulation is caused by the body’s inability to convert porphyrins into another biological molecule known as heme. Heme is mainly produced in the bone marrow and liver, and is required for red blood cells in the body. There are 8 different types of porphyria.

The symptoms of porphyrias are nonspecific, meaning they are not unique to one condition, making the initial diagnosis difficult. Symptoms often include reddish urine that becomes darker upon exposure to light, nervous system effects, and skin disorders such as burning, blistering and scarring in areas exposed to sunlight. Medical assistance should be used if there is severe abdominal pain, skin changes such as burning pain, blisters, and severe swelling, or red or brown urine.

Porphyria is usually inherited in an autosomal recessive manner, which means that inheriting one affected copy of the gene (allele) will not cause symptoms of the disease. In order to experience symptoms, an individual must inherit two affected copies of the gene, one from the mother and one from the father. Environmental triggers may make the symptoms of porphyria more apparent. Common triggers include exposure to drugs or chemicals, poor diet, smoking, stress, liver disease, menstrual hormones, alcohol use, sun exposure, or excess iron intake.

There is currently no cure for porphyrias, but treatments are used to alleviate symptoms. The delivery of nutrients and fluids are important to treat the associated dehydration. Medications can be used to control the disease, such as to absorb porphyrins so they cannot cause symptoms. Beta carotene can decrease sensitivity to sunlight, while vitamin D can be given to individuals with decreased sun exposure. Talk to your doctor about the most current treatment options. Support groups are also available for more information.

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