Compound heterozygous familial hypercholesterolemia in a child: Successfully treated by liver transplant from heterozygous living donor

Abstract

Background: Familial hypercholesterolemia (FH), mostly inherited as an autosomal dominant disease, is characterized by decreased low-density lipoprotein cholesterol (LDL-C) clearance from the plasma, due to mutation in the LDL receptor (LDL-R). Untreated or treatment resistant cases can have accelerated atherosclerosis leading to cardiovascular deaths. There are very few reports of liver transplant in children with refractory FH. Clinical Description: A 9-year-old girl was having tendinous xanthomas for last 18 months, which remained undiagnosed until she developed early onset acute coronary syndrome with triple-vessel disease. Treatment with statins was initiated for hypercholesterolemia which was detected only postcoronary artery bypass graft. The child was refractory to medical management. Management and Outcome: Genetic analysis revealed a compound heterozygous variant of FH (cHeFH) with a pathogenic mutation in LDL-R, with parents being heterozygotes. She underwent living donor liver transplantation (LT) from her heterozygote father. Posttransplantation, the lipid profiles improved markedly with gradual reduction in size of the xanthomas. Conclusion: FH, if undiagnosed and untreated, can cause serious complications as early as in the first decade. Simple cutaneous markers like tendon xanthomas should raise a suspicion of this condition and investigations should be carried out without further delay. LT, even from a heterozygous donor, can be rewarding in children with FH refractory to medical management.

Keywords

• india
• low-density lipoprotein receptor mutation
• statin
• tendon xanthoma