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New hope treatment in familial hypercholesterolemia

New hope comes today for those with familial hypercholesterolemia (FH).

Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease.



Without treatment, the life expectancy of those with familial hypercholesterolemia can be reduced by approximately 15-30 years. However, in people with homozygous familial hypercholesterolemia, life expectancy may only be 20 years or less.

Homologous chromosomes come in pairs. One homologous chromosome is inherited from the mother; the other is inherited from the father.  Homozygous refers to a gene that has identical alleles on both homologous chromosomes.   This is why the homozygous condition is particularly rare and can be more severe.

HoFH is a rare and more severe form of familial hypercholesterolemia (FH), an inherited condition characterized by very high levels of LDL-C and premature cardiovascular disease.

Inheriting FH- causing mutations from both parents results in HoFH in the child. HoFH is an extremely severe condition and is often associated with aggressive and markedly premature heart disease, including coronary artery disease and aortic valve disease. 

Children and teenagers with HoFH may have heart attacks or angina requiring the insertion of coronary stents or heart bypass surgery.

A new study shows that adding Praluent® (alirocumab) significantly reduced cholesterol levels by 35.6 per cent, compared to other lipid-lowering therapies alone, in patients with homozygous familial hypercholesterolemia.

The results of the placebo-controlled trial were presented at the joint meeting of the American College of Cardiology (ACC.20) together with the World Congress of Cardiology (WCC) Scientific Sessions.

Results showed treatment with Praluent significantly reduced other lipoprotein and lipid measures associated with elevated cardiovascular risk, including apolipoprotein B [29.8 percent (p<0.0001)], total cholesterol [26.5 percent (p<0.0001)], non-high-density lipoprotein cholesterol (HDL-C) [32.9 percent (p<0.0001)] and lipoprotein(a) [28.4 percent (p<0.0001)] versus placebo.

Lead investigator Dr Dirk Blom says,

“These results demonstrate a statistically significant and clinically-meaningful reduction in LDL-C levels after 12 weeks and have the potential to expand treatment options for very high-risk patients with this serious condition.”



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