Porphyria is a term that describes eight or more types of disorders affecting levels of the heme molecule that carries oxygen around the body. The name comes from the presence of excess porphyrin molecules in the body. Among the different porphyria treatments are a series of blood extractions or transfusions, bone marrow transplants, removal of the spleen or medications such as hydroxychloroquine, chloroquine, hemin, beta-carotene or activated charcoal. No single medication treats all of the porphyrias. Research into genetic therapy and bone marrow or stem cell transplantation might yield effective porphyria treatments other than medication.
The most common porphyria is porphyria cutanea tarda (PCT), with a prevalence of about one in every 10,000 people. About 80 percent of porphyria patients have this type of the disease. People who have PCT or another, much rarer, type of porphyria called hepatoerythropoietic porphyria (HEP) are deficient in the uroporphyrinogen decarboxylase enzyme. The lack of the enzyme results in skin blisters and mild liver problems.
PCT is the easiest of all the porphyrias to treat. Most often, a doctor will recommend a series of blood extractions to remove excess iron. Patients might also be treated with low doses of hydroxychloroquine or chloroquine. These types of porphyria treatments usually are highly successful at controlling the disease.
Congenital erythropoietic porphyria (CEP) is a very rare type of porphyria. People who have CEP are deficient in uroporphyrinogen III cosynthase enzyme, and their skin can show blisters and an increased rate of infection, along with anemia. Treatments include blood transfusions, bone marrow transplantation, activated charcoal as an oral medication and removal of the spleen.
Of all the porphyria treatments, one particular medication covers the widest range of the disorders. The drug hemin is a manufactured form of heme that is injected into a patient's vein. The medication regulates the concentration of porphyrin and porphyrin raw materials in the blood. Hemin is used to treat acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP) and delta-aminolevulinic acid dehydratase-deficiency porphyria (ADP). Another medication for these diseases is heme arginate, and sometimes patients are treated with glucose.
Erythropoietic protoporphyria (EPP) is a genetic disorder of the ferrochelatase enzyme. The disease causes photosensitive skin problems, liver problems or gallstones. The recommended treatment for EPP is to ingest beta-carotene.
Porphyria treatments cover the whole range of the group of disorders. As of early 2011, there was no cure for any type of porphyria. Doctors recommend that patients eat a high-carbohydrate diet, but diet alone does not control the symptoms of the disease. Clinical trials have researched the efficacy of gene therapy, bone marrow transplants and stem cell treatments for the porphyrias.