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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

At Birth

Markedly elevated LDL-C levels1

Reported LDL-C levels as high as 13.2 mmol/L (in a fetus)3 and 18.25 mmol/L (in a neonate)4

Childhood

Deposits of cholesterol in skin, tendons, and vasculature begin to develop1

Valvular cholesterol accumulates, leading to aortic stenosis and regurgitation1

Patients with severe phenotypes may experience an MI before their 10th year5-10

Adolescence

First major cardiovascular events in patients with a less severe phenotype1

Cholesterol and calcium deposits continue to develop1

Worsening fibrosis and inflammation in aortic root and aortic valve cusps can lead to supravalvular aortic stenosis1

Adulthood

Atherosclerosis and coronary artery disease progress1

Severe aortic calcification1

Heart failure, sudden cardiac death1

Poor prognosis despite available treatments2

If untreated, patients with the most severe phenotype rarely survive beyond 30 years1

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

Learn more about the management of HoFH

References

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;