porphyria
Sign in to savePorphyria ( or ) is a group of disorders in which substances called porphyrins build up in the body, adversely 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 short in duration. 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 chan
AI overview
Porphyria is a group of disorders where harmful substances called porphyrins accumulate in the body and damage the skin or nervous system. When it affects the nervous system, it causes sudden attacks with symptoms like severe abdominal pain, confusion, and high blood pressure that can last days to weeks and potentially lead to serious complications like paralysis or seizures.
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Key facts
- Medical condition (new).name
- Porphyria
- Medical condition (new).image
- Urine of patient with porphyria.png
- Medical condition (new).caption
- Left figure is urine on the first day while the right figure is urine after three days of sun exposure showing the classic change in color to purple.
- Medical condition (new).field
- Hematology, dermatology, neurology
- Medical condition (new).pronounce
- or
- Medical condition (new).symptoms
- Depending on subtype—abdominal pain, chest pain, vomiting, confusion, constipation, fever, seizures, blisters with sunlight
- Medical condition (new).onset
- Recurrent attacks that last days to weeks
- Medical condition (new).causes
- Usually genetic
- Medical condition (new).diagnosis
- Blood, urine, and stool tests, genetic testing
- Medical condition (new).differential
- Lead poisoning, alcoholic liver disease
Article
28 sectionsContents
- Signs and symptoms
- Acute porphyrias
- Chronic porphyrias
- Cause
- Genetics
- Triggers
- Pathogenesis
- Diagnosis
- Porphyrin studies
- Additional tests
- Management
- Acute porphyria
- Carbohydrate administration
- Heme analogs
- Cimetidine
- Symptom control
- Early identification
- Neurologic and psychiatric disorders
- Underlying liver disease
- Hormone treatment
- Erythropoietic porphyria
- Epidemiology
- History
- Vampires and werewolves
- Notable cases
- Uses in literature
- References
- External links
Porphyria ( or ) is a group of disorders in which substances called porphyrins build up in the body, adversely 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 short in duration. 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 a person's parents and are due to a mutation in one of the genes that make heme. They may be inherited in an autosomal dominant, autosomal recessive, or X-linked dominant manner. One type, porphyria cutanea tarda, may also be due to hemochromatosis (increased iron in the liver), hepatitis C, alcohol, or HIV/AIDS. The underlying mechanism results in a decrease in the amount of heme produced and a build-up of substances involved in making heme. Porphyrias may also be classified by whether the liver or bone marrow is affected. Diagnosis is typically made by blood, urine, and stool tests. Genetic testing may be done to determine the specific mutation. Hepatic porphyrias are those in which the enzyme deficiency occurs in the liver. Hepatic porphyrias include acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD), hereditary coproporphyria (HCP), and porphyria cutanea tarda.