Genetic
Children inherit HoFH from both their parents.
Ultra-rare
Estimated ~1.5 HoFH patients per million of population may be clinically diagnosed, with many more in some countries, either due to the gene pool or the number of marriages within families.1
Extreme
Arteries become clogged: People with HoFH often have 10 times the target level of cholesterol in their blood.2
Life threatening
Inevitably leading to severe heart disease: People with HoFH have an average life expectancy of just 45 years, more than 30 years shorter than the European average of 82.3
References:
1 Sjouke B et al. Homozygous autosomal dominant hypercholesterolemia in the Netherlands: prevalence, genotype-phenotype relationship and clinical outcome. Eur Heart J, 2015, 36; 560-565, Journal Advances Access (February 2014).
2 Raal FJ et al. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis 2012, 223; 202-268.
3 Borberg H. 26 years of LDL – Apheresis: a review of experience. Transfus Apher Sci. 2009, 41; 49-59.
AMYT/ALL/005