Abetalipoproteinemia

Summarized by Plex Health
Last Updated: 03 May 2022

Abetalipoproteinemia is a very uncommon problem that affects fat and vitamin absorption by the intestinal tracts and liver, leading to very low LDL-cholesterol and lack of nutrition. Abetalipoproteinemia is detected based on clinical examination, laboratory tests revealing abnormally low cholesterol, and verified by hereditary testing. This condition is triggered by hereditary versions in the MTTP genetics and is acquired in an autosomal recessive pattern. Most individuals with abetalipoproteinemia who are dealt with do not develop problems. Untreated people with abetalipoproteinemia can develop steady vision loss, muscle mass weakness, tremors, and slow or slurred speech that obtains even worse over time. People with this problem might also develop an eye disorder called retinitis pigmentosa, in which break down of the light-sensitive layer at the back of the eye can cause vision loss. In individuals with abetalipoproteinemia, the retinitis pigmentosa can lead to full vision loss. People with abetalipoproteinemia might have other eye problems, including involuntary eye activities, eyes that do not search in the same direction, and weakness of the outside muscles of the eye. People with abetalipoproteinemia usually have a low number of red cell with abnormally star-shaped red blood cells and have difficulty developing embolism, which can cause abnormal bleeding. In some cases, a condition called fatty liver develops, which can cause liver damage. Affected people experience progressive neurological deterioration, muscle weak point, difficulty walking, and blood abnormalities including a problem in which the red blood cells are malformed leading to low levels of circulating red blood cells. In some people, the damage or breakdown of the peripheral nervous system may occur. The peripheral nervous system includes all of the nerves outside of the central nerve system. Some people with abetalipoproteinemia might develop skeletal problems including backwards curvature or backwards and laterally curvature of the back, a very curved foot or clubfoot.

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