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Abetalipoproteinemia

Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth

Prevalence

<1 / 1 000 000

331

US Estimated

514

Europe Estimated

Age of Onset

Childhood

ICD-10

E78.6

Inheritance Pattern

Autosomal recessive

rnn autosomaldominant https://raremedicalnews.com/wp-content/uploads/2023/11/Depositphotos_28997795_L.jpg

5 Facts you should know

FACT

Abetalipoproteinemia is a rare autosomal recessive metabolic disorder characterized by the inability to form apolipoprotein B–containing lipoproteins (chylomicrons, VLDL, LDL), due to biallelic mutations in the MTTP gene

FACT

Affected infants typically present with failure to thrive, steatorrhea, diarrhea, and fat-soluble vitamin deficiencies, reflecting impaired intestinal absorption and systemic transport of dietary lipids

FACT

Laboratory findings include extremely low plasma cholesterol and triglyceride levels, undetectable apolipoprotein B, and absence of chylomicrons, VLDL, and LDL in plasma

FACT

Progressive complications include neurological manifestations (ataxia, peripheral neuropathy, retinitis pigmentosa) and hematologic abnormalities such as acanthocytosis and anemia, secondary to fat-soluble vitamin deficiencies

FACT

Treatment requires lifelong high-dose supplementation of fat-soluble vitamins (A, D, E, K), along with dietary fat restriction and medium-chain triglyceride supplementation to improve nutrition and delay disease progression

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