How is homozygous FH treated?

Updated: Jun 27, 2019
  • Author: Henry J Rohrs, III, MD; Chief Editor: Stuart Berger, MD  more...
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In the rare patient with homozygous FH, the standard pharmacotherapy is triple therapy consisting of a bile acid–binding resin, a statin, and a fibric acid derivative.

In children aged 10 years and older, biweekly apheresis with plasma exchange for removal of LDL particles is helpful in lowering LDL-C levels. Although invasive and expensive, plasma exchange removes LDL particles, HDL particles, fibrinogen, and platelets.

Liver transplantation is curative but has considerable morbidity and mortality. Suitable liver sources include cadaveric donors and living related donors who lack LDL-R mutations. Parents should not be donors because each parent is heterozygous for an LDL-R mutation. Liver transplantation could be considered when the risk of mortality from the disease exceeds the risk of dying from the liver transplant. However, the success of liver transplantation does pose important ethical controversies in transplantation for homozygous FH.

Whether liver transplantation should be performed in children without clinical evidence of coronary heart disease or whether the surgeon should wait for clinical evidence of coronary heart disease to develop (eg, when the child is potentially a poor candidate for liver transplantation because of coronary heart disease) is controversial. The issue of combined heart-liver transplantation for homozygous FH is another controversial consideration.

Gene therapy for homozygous FH is in its infancy but may offer a potential cure in the future.

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