Acute intermittent porphyria is a genetic disease that causes excessive production and secretion of porphyrins, leading to neurological and digestive problems. Environmental factors can trigger acute attacks, but medication and avoiding triggers can reduce symptoms. Symptoms include severe abdominal pain, cramping, diarrhea, nausea, headache, fever, confusion, severe muscle pain, numbness, tingling, and, rarely, seizures or coma. Treatment involves injections of glucose and narcotic drugs, hemin, and medications to stabilize the electrical activity in the brain. Patients are referred to a hematologist to learn about the disease and avoid episodes.
Acute intermittent porphyria is a genetic disease that causes excessive production and secretion of porphyrins in the body. Porphyrins normally help regulate the production of hemoglobin and other important chemicals in the blood and body tissues, but too much of the substance can cause a variety of neurological and digestive problems. Most people who have acute intermittent porphyria have no frequent symptoms, but environmental factors such as alcohol use, sun exposure, and bacterial infections can spontaneously trigger acute attacks. The condition cannot be cured, but taking porphyrin inhibitor medications and avoiding known triggers can significantly reduce the chances of having symptomatic episodes.
People with acute intermittent porphyria have inherited genetic defects that cause insufficient production of an essential enzyme called porphobilinogen deaminase (PBD). At normal levels, PBD helps convert porphyrins into a substance called heme that the body needs to make hemoglobin. When PBD levels are low, excess porphyrins build up in the body.
Doctors aren’t sure how elevated porphyrins trigger adverse symptoms, but the chemicals appear to slow central nervous system functioning when certain environmental triggers are present. Alcohol, cigarette smoking, dietary changes, and excessive stress have been identified as potential triggers in people with acute intermittent porphyria. Additionally, antibiotic medications, steroids, infections, and even exposure to sunlight correlate with symptomatic episodes in some people.
Symptoms tend to come on suddenly and last for several days at a time. Early signs of an attack may include severe abdominal pain, cramping, diarrhea and nausea. Headache, fever and confusion tend to follow digestive symptoms. As the central nervous system becomes more involved, a person may experience severe muscle pain or numbness and tingling in the extremities. Rarely, the heart may start racing and induce a seizure or coma.
When a patient shows possible symptoms of acute intermittent porphyria, an emergency room doctor collects blood and urine samples to check for abnormally high levels of porphyrins. Acute attacks are usually treated with injections of glucose and narcotic drugs to normalize heme production and relieve pain. Patients are often given a drug called hemin, which can reduce the severity of an attack. If a patient is experiencing seizures, the doctor can give medications to stabilize the electrical activity in the brain.
After treatment, the patient is referred to a specialist called a hematologist to learn about the disease and get useful information on how to avoid episodes. The hematologist helps identify patient-specific triggers, such as smoking or poor eating habits, and explains the importance of healthier lifestyle choices. By following doctor’s recommendations and attending regular checkups, most people are able to live without symptoms for years at a time. However, some patients experiencing multiple attacks may develop chronic pain, which must be carefully monitored and managed.
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