Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and last a short time. Symptoms of an attack include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure, and high heart rate. The attacks usually last for days to weeks. Complications may include paralysis, low blood sodium levels, and seizures. Attacks may be triggered by alcohol, smoking, hormonal changes, fasting, stress, or certain medications. If the skin is affected, blisters or itching may occur with sunlight exposure.
Most types of porphyria are inherited from one or both of the parents of individuals, and are due to mutations in one of the genes that make heme. They can be inherited in an autosomal dominant, autosomal recessive or X-linked dominant manner. One type of Porphyria cutanea tarda may also be due to the increase of iron in the liver, hepatitis C, alcohol, or HIV / AIDS. The results of the baseline mechanism in reducing the amount of heme and increasing substances involved in making heme. Porphyrias can also be classified as affecting the liver or bone marrow. The diagnosis is usually made by blood tests, urine and fecal tests. Genetic testing may be done to determine the specific mutation.
Treatment depends on the type of porphyria, and symptoms of persons. Treatment of porphyria skin, typically involves the avoidance of sunlight. Treatment of acute porphyria may include the provision of intravenous heme or glucose solution. Rarely, liver transplantation can be performed.
The exact frequency Porphyria is unclear: it is believed that it affects somewhere between 1 and 100 to 50.000 people. Rates vary around the world. Porphyria cutanea tarda is the most common type. The disease was described in 370 BC by Hippocrates. The underlying mechanism was first described by Felix Hoppe-Seyler in 1871. The name of Porphyry from the Greek πορφύρα, stimulates, meaning "purple", a reference to the color of urine, which may occur during an attack.