Acute intermittent porphyria
Acute Intermittent Porphyria (pronunciation: a-kyoot in-ter-mit-ent por-fear-ee-a) is a rare genetic disorder affecting the production of heme, a vital substance for the body. The disorder is characterized by periodic attacks of abdominal pain, nausea, and neurological disturbances.
Etymology
The term "Acute Intermittent Porphyria" is derived from the Greek words "porphura" meaning purple and "porphyra" meaning pigment. This is due to the fact that the urine of a person suffering from this condition may turn purple when exposed to light.
Symptoms
The symptoms of Acute Intermittent Porphyria can vary greatly among individuals. Some people may remain asymptomatic, while others may experience severe symptoms. The most common symptoms include:
- Abdominal pain
- Nausea
- Vomiting
- Constipation
- Tachycardia (rapid heart rate)
- Hypertension (high blood pressure)
- Neurological disturbances such as seizures and mental changes
Causes
Acute Intermittent Porphyria is caused by a deficiency of the enzyme porphobilinogen deaminase, which is involved in the production of heme. This deficiency is usually due to a mutation in the HMBS gene.
Diagnosis
Diagnosis of Acute Intermittent Porphyria is based on clinical symptoms, a family history of the disease, and specialized laboratory tests. These tests typically measure the levels of porphyrins and related chemicals in the blood, urine, and stool.
Treatment
Treatment for Acute Intermittent Porphyria primarily involves managing symptoms during an attack and preventing future attacks. This may include hospitalization, pain medication, and medications to correct electrolyte imbalances. In severe cases, a blood transfusion may be necessary.
See Also
External links
- Medical encyclopedia article on Acute intermittent porphyria
- Wikipedia's article - Acute intermittent porphyria
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