Porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process. Heme is a chemical compound that contains iron and gives blood its red colour.
Mostly, porphyrias are inherited disorders. In some cases, porphyria results from inheriting an abnormal gene from one parent while the forms are due to inheriting two abnormal genes (one from each parent). Porphyria cutanea tarda is most often an acquired disorder. The disorder occurs when factors other than genes cause an enzyme deficiency in the liver.
Drugs such as tranquilizers, birth control pills, and sedatives, chemicals, binge drinking, smoking, excess iron in the body, stress, menstrual hormones and exposure to the sun are some of the triggers of porphyrias.
The symptoms of porphyria vary among types. Skin can become overly sensitive to sunlight in some cases and as a result, the exposed skin develops redness, blistering and often scarring.
In some cases, porphyria (particularly calledacute porphyrias) can affect the nervous system. When nervous system is affected, the symptoms are chest pain, abdominal pain, seizures and muscle weakness. These symptoms can last from days to weeks.
The treatment for porphyrias depends on whether it is acute porphyrias or cutaneous porphyrias. Treatment of acute porphyrias focuses on treatment of the symptoms and preventing complications. The treatment includes stopping medications that may have triggered symptoms, intravenous sugar (glucose) or fluids to combat dehydration and injections of hemin.
The treatment options for cutaneous porphyrias are drawing blood (phlebotomy), medication (usually the drugs used to treat malaria), beta carotene, reducing or eliminating triggers and vitamin D supplements to treat vitamin D deficiency.
Read more articles on Porphyria.
The signs and symptoms of porphyria vary among types. Some types of porphyria cause the skin to become overly sensitive to sunlight.read more
Most of the porphyrias are inherited conditions. The genes for all the enzymes in the heme pathway have been identified.read more