Key result
Familial intestinal hypocholesterolemias are rare genetic disorders diagnosed by severe hypocholesterolemia and vitamin deficiencies, and treated with a low-fat diet and vitamin supplementation.
Why the study?
Severe hypocholesterolemia and fat-soluble vitamin deficiencies require exploration to avoid missing rare, but treatable, familial intestinal hypocholesterolemias.
Severe hypocholesterolemia should prompt investigation for familial intestinal hypocholesterolemias, which are treatable with dietary modification and vitamin supplementation.
Severe hypocholesterolemia may prompt evaluation for rare familial disorders; leaves open prospective validation of diagnostic and supplementation strategies.
Familial intestinal hypocholesterolemias, such as abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease, are rare genetic diseases that result in a defect in the synthesis or secretion of lipoproteins containing apolipoprotein B.In children, these conditions present with diarrhoea and growth failure, whereas adults present with neuromuscular, ophthalmological, and hepatic symptoms. Simple laboratory investigations have shown that diagnosis can be made from findings of dramatically decreased cholesterol levels, deficiencies in fat-soluble vitamins (mostly vitamin E), endoscopic findings of the characteristic white intestinal mucosa, and fat-loaded enterocytes in biopsy samples. Genetic analysis is used to confirm the diagnosis. Treatment is based on a low-fat diet with essential fatty acid supplementation, high doses of fat-soluble vitamins, and regular and life-long follow-up.The present study examines cases and literature findings of these conditions, and emphasises the need to explore severe hypocholesterolemia and deficiencies in fat-soluble vitamins to not miss these rare, but easy to diagnose and treat, disorders.
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Sissaoui et al. (2021) conducted a review in Familial intestinal hypocholesterolemias. Familial intestinal hypocholesterolemias was evaluated. Familial intestinal hypocholesterolemias are rare genetic disorders diagnosed by severe hypocholesterolemia and vitamin deficiencies, and treated with a low-fat diet and vitamin supplementation.