title: Preemptive liver transplantation in a child with familial hypercholesterolemia.
abstract: Familial hypercholesterolemia is an autosomal codominant disorder associated with markedly elevated plasma concentration of LDL-cholesterol and increased cardiovascular risk. Homozygous patients have rapid development of atherosclerosis with death from cardiovascular disease even in childhood. Life-long recurrent apheresis to reduce plasma LDL-cholesterol is considered the gold standard for treatment. Liver transplantation can be curative for this condition, but is usually only considered after the development of cardiovascular disease. We report a 5.5-yr-old child initially misdiagnosed with heterozygous familial hypercholesterolemia and treated by low-fat diet only. In view of persistent hypercholesterolemia and development of xanthomatosis, new molecular studies indicated the presence of two different mutations in the LDL receptor gene, with one being a deletion of two exons not identifiable with standard sequencing analysis. Recurrent plasma apheresis in combination with statins lowered, but did not normalize plasma LDL-cholesterol levels. It caused progressive reduction of the size of xanthomas and prevented the development of vascular complications. After two yr, liver transplantation normalized LDL-cholesterol levels and completely resolved the skin lesions. Preemptive liver transplantation is a definitive cure of familial homozygous hypercholesterolemia and might be more effective if performed before development of vascular complications.
authors.affiliation: Metabolic Unit, Bambino Gesù Children Hospital, Rome, Italy.
authors.forename: Arianna
authors.initials: A
authors.lastname: Maiorana
authors.forename: Valerio
authors.initials: V
authors.lastname: Nobili
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Calandra
authors.forename: Paola
authors.initials: P
authors.lastname: Francalanci
authors.forename: Silvia
authors.initials: S
authors.lastname: Bernabei
authors.forename: Maya
authors.initials: M
authors.lastname: El Hachem
authors.forename: Lidia
authors.initials: L
authors.lastname: Monti
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Gennari
authors.forename: Giuliano
authors.initials: G
authors.lastname: Torre
authors.forename: Jean
authors.initials: J
authors.lastname: de Ville de Goyet
authors.forename: Andrea
authors.initials: A
authors.lastname: Bartuli
mesh_terms: D001707:Biopsy, Needle; D001781:Blood Component Removal / Q000379:methods; D002675:Child, Preschool; D008078:Cholesterol, LDL / Q000032:analysis; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D007150:Immunohistochemistry; D016031:Liver Transplantation / Q000379:methods*; D018570:Risk Assessment; D012720:Severity of Illness Index; D013997:Time Factors; D016896:Treatment Outcome; D014973:Xanthomatosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: D008078:Cholesterol, LDL