Acute intermittent porphyria is a genetic disorder that results in 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 tissue, but too much of the substance can result in a number of neurological and digestive problems. Most people who have acute intermittent porphyria do not experience 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-inhibiting medications and avoiding known triggers can significantly lesson the chances of having symptomatic episodes.
People who suffer from acute intermittent porphyria have inherited genetic defects that cause insufficient production of an essential enzyme called porphobilinogen-deaminase (PBD). In normal levels, PBD helps to convert porphyrins into a substance called heme that the body needs to create hemoglobin. When PBD levels are low, excess porphyrins build up in the body.
Doctors are unsure how elevated porphyrins trigger adverse symptoms, but the chemicals appear to slow down central nervous system functioning when certain environmental triggers are present. Alcohol, cigarette smoke, dietary changes, and excess stress have been identified as potential triggers in people with acute intermittent porphyria. In addition, antibiotic medications, steroids, infections, and even exposure to sunlight are correlated with symptomatic episodes in some people.
Symptoms tend to come on suddenly and last for several days at a time. The first signs of an attack may include severe abdominal pain, cramps, diarrhea, and nausea. Headaches, fever, and confusion tend to follow digestive symptoms. As the central nervous system becomes more involved, a person can experience sharp muscle pains or numbness and tingling in the extremities. Rarely, the heart can start racing and induce a seizure or coma.
When a patient exhibits 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 administer drugs to stabilize electrical activity in the brain.
Following treatment, the patient is referred to a specialist called a hematologist to learn about the disease and get helpful information about avoiding episodes. The hematologist helps to identify the patient's specific triggers, such as smoking or poor diet habits, and explains the importance of healthier lifestyle choices. By following the doctor's recommendations and attending regular checkups, most people are able to live symptom-free for years at a time. Some patients who experience multiple attacks may develop chronic pain, however, which should be monitored and managed carefully.