Jonathan Aarons M.D.

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Acute Intermittent Porphyria

Acute Intermittent Porphyria
Acute Intermittent Porphyria

Acute Intermittent Porphyria is an uncommon painful disorder causing abdominal discomfort, back pain, nausea and vomiting, as well as neurological symptoms.  The porphyrias are a group of metabolic problems in the synthesis of heme.  The disorder is genetic and is passed down from one parent to a child.  It is more common in women then in men and develops after puberty.  Many people with acute intermittent porphyria never have any symptoms.   Certain factors can precipitate symptoms, causing an attack. Many drugs (including barbiturates, anticonvulsants, and sulfonamide antibiotics) can bring on an attack. Sex hormones, such as progesterone and related steroids, can precipitate symptoms, as can low-calorie and low-carbohydrate diets, ingestion of alcohol, and exposure to organic solvents (for example, in dry cleaning fluids or paints). Mental stress or an infection is sometimes implicated.  Abdominal pain is the most common symptom and is associated with nausea and vomiting.  Urinary symptoms can occur and the urine may turn a reddish brown color.  During an attack, patients are often restless and irritated.  Tremors and seizures can occur.  Autonomic dysfunction may occur with sweating and hypertension.  Since acute intermittent porphyria is an uncommon disorder, the patient usually undergoes numerous laboratory studies, MRI, CT scans and other diagnostics before a diagnosis can be made.  The diagnosis is made with blood and urine testing.  An attack of acute intermittent porphyria is usually treated by intravenous infusion of glucose and hematin.  Once the diagnosis has been made, avoidance of those things that precipitates and attack is the best course of action moving forward.

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