Abetalipoproteinemia is a rare genetic disorder that prevents the body from absorbing fat, fat-soluble vitamins, and cholesterol, leading to developmental problems. Symptoms include difficulty gaining weight, diarrhea, and vision problems. Treatment includes vitamin and linoleic acid supplements and limited intake of long-chain fats and triglycerides. Genetic testing can help prevent deterioration, but in severe cases, irreversible damage can occur. The Abetalipoproteinemia Collaboration Foundation aims to connect and support those affected by the disorder.
Abetalipoproteinemia, also known as Bassen-Kornzweig syndrome, is a condition in which the body’s organs are unable to absorb fat, fat-soluble vitamins (such as E, A, D, and K), and cholesterol from the diet. An individual with the condition lacks a specific type of lipoprotein called beta-lipoprotein that helps with the absorption process. Certain amounts of fat, vitamins and cholesterol are important for healthy development and growth, without them developmental problems will occur.
People who have inherited abetalipoproteinemia have noticeable symptoms when they are only a few months old. Symptoms may include an inability to gain weight; diarrhea; greasy, frothy, foul-smelling stools; a swollen abdomen; and oddly shaped red blood cells. As these individuals age, there may be problems with their nervous systems, muscle coordination problems, slurred speech, curvature of the spine, vision problems, and movement and balance difficulties. Many of the symptoms of abetalipoproteinemia are the result of a lack of absorption of vitamins, especially vitamin E.
There are very few reported cases of abetalipoproteinemia. It is an autosomal recessive genetic disorder in which mutations affect the microsomal triglyceride transfer protein (MTTP) gene. This means that a person with abetalipoproteinemia has parents who each have one copy of the mutated MTTP gene. Thus, the parents do not have any symptoms of being carriers of the disorder, but the children do.
There are some tests that can help determine if an individual has abetalipoproteinemia. The apolipoprotein B blood test will determine the lipid levels. Also, other blood tests can check for fat-soluble vitamin deficiencies. A stool sample analysis, cholesterol test, and eye exam may also be done. Treatment includes the use of vitamin and linoleic acid supplements and a limited intake of long-chain fats and triglycerides.
Genetic testing of abetalipoproteinemia may be available, so deterioration can be prevented. In these cases, high amounts of fat-soluble vitamins can decrease progression, particularly for vision-related problems. Also, when taking supplements, the prognosis is good. However, in its most severe form, some affected individuals may suffer irreversible damage to their nervous system before reaching the age of 30. Complications can include blindness, nerve damage, and deterioration of the individual’s mental abilities.
While rare, there is growing interest in the disorder. The Abetalipoproteinemia Collaboration Foundation was launched in January 2007. Its goal is to globally connect and create an international support group for people living with abetalipoproteinemia, their families, physicians and scientists.
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