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Homozygous Familial Hypercholesterolemia

Information for
Healthcare Professionals

Left untreated, HoFH can progress quickly and lead to premature cardiovascular events and mortality1–9

The progression of HoFH

MI, myocardial infarction.

The burden of HoFH

HoFH represents a considerable burden for patients due to physical signs and limitations caused by the disease, as well as a number of psychosocial factors1,2

Visible signs, physical limitations, and emotional distress due to effects of cholesterol deposition1,2

  • Symptoms such as fatigue and shortness of breath may limit physical activity
  • Potentially unsightly, painful, or even disabling cutaneous cholesterol deposition (xanthomas)

Psychosocial functioning1

Patients reported feeling ashamed of their condition, being emotionally isolated, and having uncertainty about disease progression

Impact on family and social activity1

Patients reported being unable to participate in social and sporting activities


1. Cuchel M et al. Eur Heart J. 2014;35:2146–2157; 2. Bruckert E. Atheroscler Suppl. 2014;15:26–32; 3. de Gennes JL et al. Arteriosclerosis. 1985;5:440–442; 4. Patsch W et al. J Clin Invest. 1980;66:123–129; 5. Al-Shaikh AM et al. Cardiol Young. 2002;12:105–112. 6. Naoumova RP et al. Curr Opin Lipidol. 2004;15:413–422; 7. Raal FJ et al. Atherosclerosis. 2018;277:483–492; 8. Widhalm K et al. J Pediatr. 2011;158:167; 9. Widhalm K et al. Atherosclerosis. 2017;257:86–89;