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Abetalipoproteinemia
Thursday, 21 July 2005
Thursday, 21 July 2005
Bassen-Kornzweig syndrome

What

Abetalipoproteinemia is a rare genetic disease that affects how fats are made and carried around in the body. The body needs fats to help with digestion and to build healthy nerves and muscles. Children with abetalipoproteinemia often have very low amount of fats and cholesterol in their blood and have problems as a result of this, such as diarrhea, inability to gain weight as a baby, and eventually eye problems and walking/balancing problems.

Who

Abetalipoproteinemia is a very rare disease. Children with abetalipoproteinemia often show signs and symptoms of the disease very early in life, most often within the first several months of being born.

Signs and Symptoms

Within the first several months of life, babies with abetalipoproteinemia develop a bloated stomach, diarrhea, fatty and foul-smelling stool (steatorrhea), and poor weight gain. This is because the gastrointestinal tract is not absorbing fats in the diet. Eye problems (retinitis pigmentosa) can also develop, and the child will first lose some night and color vision and eventually progress to near blindness. At age 2-6 years, some children will show clumsiness and have decreased sensation of touch and pain. At 5-10 years, some children will have muscle weakness and tremors when they try to do or reach for things. About a third of the children will develop some learning problems. In their 30s or 40s, patients with abetalipoproteinemia might have difficulty with balancing and walking and thus require mechanical assistance.

Possible Causes

This disease is inherited in an autosomal recessive manner, meaning that an affected child received a mutated copy of the gene responsible for this disorder from each parent. Each parent would be a carrier of the gene for abetalipoproteinemia but not have symptoms; they would have one copy of the gene with a genetic change (mutation) and a second copy that functions normally. The gene responsible for this disorder makes a protein whose normal function is to handle fats in the body. Since fats are necessary for the body to function and develop, an inability of this protein to do so causes problems with vitamin absorption, poor weight gain, vision problems and walking difficulty.

Diagnosis

Though the disease can be diagnosed early, within the first couple months of life, when the baby comes in with a bloated stomach, diarrhea, fatty and foul-smelling stool, and decreased growth, it can be tricky because these symptoms are pretty non-specific and can be signs of many other diseases. Thus, a doctor might do a blood test to look for abnormal blood cells (acanthocytosis) that often occur with abetalipoproteinemia and for lack of a protein called apo B. After an overnight fast, a biopsy of the small intestine, can be obtained to confirm the diagnosis of abetalipoproteinemia. In this procedure, a tube is inserted into the mouth and into the small intestine and a piece of tissue is removed to be analyzed.

Treatment

A special diet of low-fat, high-caloric, vitamin-enriched meals needs to be worked out amongst the patient, the doctor and a dietician to optimize the dietary needs and development of the patient. Some children will also be placed on vitamin supplements, particularly the fat soluble vitamins (A, D, E, and K).

Prognosis

If untreated, children with abetalipoproteinemia gradually become wheelchair-bound., Although there is currently no cure for the disease, children started out on the specialized diet and vitamin supplements have a better prognosis and less severe eye, sensory, and motor problems.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

About.com.
Great website with a thorough explanation of abetalipoproteinemia, a discussion group where parents can post questions and links to other resources.

Medline Plus
Great website with a lot of info, about disease, drugs, and a search option that allows patients and their families to learn more about research being done on their disease.

ClinicalTrials.gov
National website that has clinical trials posted for patients with a certain disease. There is one currently open for abetalipoproteinemia.

Google Search for Abetalipoproteinemia

References and Sources

Cruse, R. Hereditary peripheral neuropathies associated with other defects. UptoDate. www.utdol.com/application/topic.asp?file=ped_neur/7406&type=P&selectedTitle=5~9 Harrison’s online. Chapter 335. Disorders of Lipoprotein Metabolism. www.accessmedicine.com/content.aspx?aID=102203&searchStr=abetalipoproteinemia#102203 Shaffer, F. Acanthocytosis. eMedine. www.emedicine.com/ped/topic2.htm