Symptoms of Abetalipoproteinemia are vague and may vary from person to person. They include vision, blood, and digestive problems. If left untreated, the condition can lead to a variety of complications, including neurological disorders, fibrosis, liver failure, blindness, and deterioration of mental and physical abilities. Thankfully, early detection and treatment can restore a balance to life and help curb the symptoms of abetalipoproteinemia.
Abetalipoproteinemia is an inherited condition that affects the body’s ability to absorb and store dietary fats. The condition is caused by mutations in the microsomal triglyceride transfer protein (MTTP) gene, which is involved in the transport of lipids out of the heart. When this protein is deficient, the intestines cannot produce apoB-containing lipoproteins, which are necessary for the absorption and storage of fats. The condition can also cause abnormal stools, which can be characterized by high amounts of fat.
Abetalipoproteinemia symptoms usually begin in the first couple of months of life. The condition usually affects boys more than girls. Other symptoms include bloated bellies, diarrhea, and digestive problems. These symptoms may be mild or severe. The condition can also cause abnormal bleeding and involuntary eye movements. In severe cases, it can cause irreversible damage to the nervous system. The disease can also result in progressive retinal degeneration, which can make it difficult to see. Eventually, the affected person may be unable to walk without help.
Abetalipoproteinemia may cause anemia, which can result in tiredness, lightheadedness, and fatigue. The condition may also cause a reduction in red blood cell count. During a blood test, abnormal red blood cells can be detected. The doctor may also examine the patient’s eyes for signs of anaemia. If the patient has low blood levels of vitamin K, the doctor may prescribe supplemental vitamin K. Vitamin K deficiency can lead to blood abnormalities, including bleeding. It may also result in a reduction in the amount of blood clotting factor, which can cause severe gastrointestinal bleeding.
If the doctor finds a genetic cause, genetic counseling is often recommended. The parent who has the faulty gene will typically not show signs of the disease. If the parent does show signs of the disease, the physician may also order tests to check for the presence of the mutated gene. These tests include blood tests, a muscle test, an eye exam, and an intestinal biopsy.
Abetalipoproteinemia treatment involves a variety of specialized tests that check the patient’s lipid and cholesterol levels, as well as a detailed medical history. This is usually followed by a diet plan and supplements that help replenish vitamins and minerals. It is also recommended that patients are closely monitored every six to twelve months. Symptoms may vary from person to person, and treatment may require a coordinated effort by multiple specialists.
Abetalipoproteinemia treatments are designed to address the specific symptoms of each patient. Typically, treatment involves a diet that is low in fat, including a diet that is high in vitamin E and iron. Patients can also receive high doses of vitamin E to help prevent or slow the onset of sequels.
