Porphyria, Causes, Signs and Symptoms, Diagnosis and Treatment.

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Chapters

0:00 Introduction
1:43 Causes of Porphyria
2:17 Symptoms of Porphyria
3:20 Diagnosis of Porphyria
3:49 Treatment of Porphyria





Porphyria is a group of liver disorders in which substances called porphyrins build up in the body, negatively affecting the skin or nervous system.[1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration.[1] Symptoms of an attack include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure, and high heart rate.[1][2][4] The attacks usually last for days to weeks.[2] Complications may include paralysis, low blood sodium levels, and seizures.[4] Attacks may be triggered by alcohol, smoking, hormonal changes, fasting, stress, or certain medications.[2][4] If the skin is affected, blisters or itching may occur with sunlight exposure.[2]

Most types of porphyria are inherited from one or both of a person's parents and are due to a mutation in one of the genes that make heme.[2] They may be inherited in an autosomal dominant, autosomal recessive, or X-linked dominant manner.[1] One type, porphyria cutanea tarda, may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.[1] The underlying mechanism results in a decrease in the amount of heme produced and a build-up of substances involved in making heme.[1] Porphyrias may also be classified by whether the liver or bone marrow is affected.[1] Diagnosis is typically made by blood, urine, and stool tests.[2] Genetic testing may be done to determine the specific mutation.[2]

Treatment depends on the type of porphyria and the person's symptoms.[2] Treatment of porphyria of the skin generally involves the avoidance of sunlight, while treatment for acute porphyria may involve giving intravenous heme or a glucose solution.[2] Rarely, a liver transplant may be carried out.[2]

The precise prevalence of porphyria is unclear, but it is estimated to affect between 1 and 100 per 50,000 people.[1] Rates are different around the world.[2] Porphyria cutanea tarda is believed to be the most common type.[1] The disease was described as early as 370 BC by Hippocrates.[5] The underlying mechanism was first described by German physiologist and chemist Felix Hoppe-Seyler in 1871.[5] The name porphyria is from the Greek πορφύρα, porphyra, meaning "purple", a reference to the color of the urine that may be present during an attack.[5]