Preemptive liver transplantation in a child with familial hypercholesterolemia.
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.
Maiorana
Arianna
A
Metabolic Unit, Bambino Gesù Children Hospital, Rome, Italy.
Nobili
Valerio
V
Calandra
Sebastiano
S
Francalanci
Paola
P
Bernabei
Silvia
S
El Hachem
Maya
M
Monti
Lidia
L
Gennari
Fabrizio
F
Torre
Giuliano
G
de Ville de Goyet
Jean
J
Bartuli
Andrea
A
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
D008078:Cholesterol, LDL