Treating Homozygous (Ho) FH

In a more serious form, the defective FH gene may be handed down from both parents, or from one FH parent and one compound heterozygous parent.

When this happens a child will have a 25% chance of acquiring the more serious form of FH - homozygous, which should really be diagnosed at the earliest possible age, simply by following relevant guidelines and immediately referred to a lipid specialist and given the highest priority for treatment. The incident rate for these forms of FH is about one in a million of the population.

If you have homozygous FH or compound heterozygous FH, you will usually have a much more severe form of the disease than someone with heterozygous FH. Your cholesterol level is often higher than 12mmol/l and, if it is not treated, you may develop heart disease as a child. You are also more likely to have some of the following symptoms: fatty skin growths called xanthomas and cholesterol deposits in the eye (corneal arcus), as well as total cholesterol levels of 12 mmol/l (464 mg/dL) or above.

LDL-apheresis

This form of FH requires LDL-apheresis, which is a procedure where your blood is routinely scrubbed clean (about every two weeks a procedure taking about three hours) of bad cholesterol and is similar to kidney dialysis. The procedure is of most value if LDL levels remain higher than the target set by the physician. LDL-apheresis may also be required if cholesterol-lowering medicines do not work. The procedure is quite expensive but nonetheless vital and potentially life saving.  It is only available at specialist centres in some countries.. There are many countries where the procedure is unavailable. The International FH Foundation has learnt that there are centres in China where the procedure is available.

In extremely rare circumstances partial or full liver transplantation is undertaken although this procedure is extremely difficult and the long term effect of taking anti-rejection drugs such as cyclosporine can shorten life expectancy.