Master Abetalipoproteinemia with Picmonic for Medicine

With Picmonic, facts become pictures. We've taken what the science shows - image mnemonics work - but we've boosted the effectiveness by building and associating memorable characters, interesting audio stories, and built-in quizzing.

DOWNLOAD PDF

Recommended Picmonics

Hyperchylomicronemia (Type I Familial Dyslipidemia)

Familial Hypercholesterolemia (Type IIa Familial Dyslipidemia)

Dysbetalipoproteinemia (Type III Familial Dyslipidemia)

Hypertriglyceridemia (Type IV Familial Dyslipidemia)

Hyperlipoproteinemia (Type V Dyslipidemia)

Abetalipoproteinemia

A-beta-fish and Mr. Protein-lips

Nicholazk

Abetalipoproteinemia, also known as Bassen-Kornzweig syndrome, is an autosomal recessive medical condition that interferes with the normal absorption of fat and fat-soluble vitamins. This condition is caused by a deficiency of apolipoproteins B-48 and B-100 from a mutation in the microsomal triglyceride transfer protein gene, or MTTP. These patients develop a complete deficiency of chylomicrons, VLDL, and LDL. Early symptoms include malabsorption, steatorrhea, and failure to thrive, while late symptoms include ataxia, retinitis pigmentosa and spinocerebellar degeneration. Diagnostic signs include lipid-laden enterocytes on intestinal biopsy, acanthocytes, and decreased plasma cholesterol and LDL levels. Treatment includes large doses of oral vitamin E and restriction of long-chain fatty acids.

13 KEY FACTS

This condition is inherited in an autosomal recessive manner. This means that for the child to manifest the disease, they must inherit two abnormal alleles.

This condition is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies of apolipoprotein B-48 and apolipoprotein B-100. These proteins are used in the synthesis and transportation of chylomicrons and VLDL, respectively.

Mutation in microsomal triglyceride transfer protein (MTTP) is inherited in an autosomal recessive manner and results in the deficiency of apolipoprotein B-48 and apolipoprotein B-100.

Malabsorption is defined as an abnormal absorption of nutrients in the gastrointestinal tract. Malabsorption of fat and fat-soluble vitamins (vitamins A, D, E, K) is particularly pronounced in patients with abetalipoproteinemia.

Steatorrhea is characterized by the excretion of abnormal quantities of fat with feces owing to reduced absorption of fat by the intestines. This is common in patients with abetalipoproteinemia due to the malabsorption of fat and fat-soluble vitamins (A, D, E, K).

Infants with this condition often present with failure to thrive because of malabsorption of fat-soluble vitamins and calories.

Ataxia is one of the possible manifestations of abetalipoproteinemia.

Retinitis pigmentosa is a group of genetic disorders that involves a breakdown and loss of cells in the retina. Common symptoms include difficulty seeing at night (nyctalopia) and a loss of peripheral vision. This condition is associated with abetalipoproteinemia.

Spinocerebellar degeneration is one of the late manifestations of abetalipoproteinemia; this can lead to balance problems and ataxia.

Intestinal biopsy can be used for the confirmation of the diagnosis and reveals lipid-laden enterocytes.

Acanthocytes are abnormal red blood cells that have spiked cell membranes made up of thorny projections and are frequently found on peripheral blood smears of patients with abetalipoproteinemia. Acanthocytes can also be seen in patients with severe liver dysfunction and malnutrition.

Due to the severe fat malabsorption, this condition is characterized by decreased levels of plasma cholesterol (< 30 mg/dl) and undetectable levels of LDL.

Large doses of oral vitamin E and restriction of long-chain fatty acids in the diet are used in the treatment of this condition.

DOWNLOAD PDF