[Familial hypobetalipoproteinemia: Report of a family and review of Spanish contributions].
Familial hypobetalipoproteinemia (FHBL) is a rare autosomal codominant disorder of lipoprotein metabolism characterized by low levels of apoprotein B, beta-lipoproteins, total cholesterol and low-density lipoprotein cholesterol. The heterozygous condition is normally asymptomatic whereas homozygotes are clinically indistinguishable from patients with abetalipoproteinemia. We report a Spanish gypsy family with four heterozygous members. Both the propositus and her mother presented acanthocytosis. Given the high degree of familial consanguinity between cousins, the heterozygous members were given genetic counselling to prevent homozygote descendants of heterozygotes. We review a further four previously reported Spanish families with FHBL.
Diego Núñez
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MA
Unidad de Pediatría, Centro de Salud Pintor Oliva, Palencia. mdiegon@nexo.es
Cortijo González
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C
D002675:Child, Preschool; D005260:Female; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics*; D008297:Male; D010375:Pedigree