Hepatic porphyria
Hepatic Porphyria
Hepatic porphyria (pronunciation: heh-PAT-ik por-FEAR-ee-uh) is a group of rare genetic disorders that affect the liver. The term "porphyria" comes from the Greek word "porphura", meaning "purple pigment". This refers to the purple-colored compounds that may be present in the urine or stool of a person with porphyria.
Hepatic porphyrias are caused by deficiencies in certain enzymes that are involved in the production of heme, a substance that is crucial for the function of hemoglobin and other proteins. There are several types of hepatic porphyria, including acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria.
Symptoms
The symptoms of hepatic porphyria can vary greatly depending on the specific type of porphyria a person has. However, common symptoms include abdominal pain, nausea, vomiting, and constipation. Some people may also experience neurological symptoms such as confusion, seizures, and muscle weakness.
Diagnosis
Diagnosis of hepatic porphyria typically involves a series of tests, including blood tests, urine tests, and stool tests. Genetic testing may also be performed to identify the specific type of porphyria.
Treatment
Treatment for hepatic porphyria is typically focused on managing symptoms and preventing attacks. This may involve medications to control pain and other symptoms, as well as lifestyle changes to avoid triggers.
See Also
- Porphyria
- Heme
- Hemoglobin
- Acute intermittent porphyria
- Variegate porphyria
- Hereditary coproporphyria
External links
- Medical encyclopedia article on Hepatic porphyria
- Wikipedia's article - Hepatic porphyria
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