What is acute intermittent porphyria?
acute intermittent porphyria is a genetic disorder that results in excessive production and secretion of porphyrins in the body. Porphyrins usually help to regulate the production of hemoglobin and other important chemicals in blood and body tissue, but too many substances can lead to 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 infection can spontaneously cause acute attacks. The condition cannot be cured, but the use of drugs inhibiting porphyrin and avoiding known triggers can significantly lessons of chances of symptomatic episodes. In normal levels, PBD helps to convert porphyrins into a fabric called heme body must create hemoglobin. When PBD levels are low, excess porphyrins accumulate in the body.
doctors are not sure how increased porphyrins cause unfavorable symptoms, but it seems that chemicals slow down the functioning of the central nervous system,when certain environmental triggers are present. Alcohol, cigarette smoke, dietary changes and excessive stress have been identified as potential triggers in people with acute intermittent porphyria. In addition, drugs for antibiotics, steroids, infections and even exposure to sunlight correlate with symptomatic episodes in some people.
symptoms tend to suddenly appear and take several days at a time. The first signs of attack may include severe abdominal pain, convulsions, diarrhea and nausea. Headaches, fever and confusion tend to maintain the symptoms of digestive digestion. As the central nervous system is involved, one can experience sharp muscle pain or numbness and tingling on the limbs. The heart rarely can start to race and trigger a seizure or coma.
When the patient shows possible symptoms of acute intermittent porphyria, the doctor of the emergency room collects blood samplesand urine to check 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 often get a medicine called Hemin, which can reduce the severity of the attack. If the patient suffers from seizures, the physician may administer medicines to stabilize electrical activity in the brain.
After treatment, the patient is referred to a specialist called hematologist to learn about the disease and obtain useful information about avoiding episodes. The hematologist helps to identify the patient's specific triggers such as smoking or poor eating habits, and explains the importance of a healthier lifestyle selection. Most people have been able to live without symptoms for years at once. However, some patients who experience more attacks may develop chronic pain that should be carefully monitored and managed.