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Homozygous Familial Hypercholesterolemia (HoFH)

Sex differences in diagnosis and treatment of homozygous familial hypercholesterolemia

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While men with homozygous familial hypercholesterolemia (HoFH) have a higher prevalence of myocardial infarction (MI) compared to women, both sexes exhibit similar ages at diagnosis and similar untreated LDL cholesterol levels, according to a new study, which also found that despite receiving similar lipid-lowering treatments, women with HoFH demonstrated a lower cumulative incidence of MI and a trend towards lower all-cause and cardiovascular mortality compared to men, suggesting that early diagnosis and treatment are crucial in attenuating cardiovascular risk in both sexes.

Researchers analyzed information from 389 women and 362 men with HoFH to investigate disparities in age at diagnosis, risk factors, lipid-lowering treatment, and cardiovascular morbidity and mortality.

The study found that women and men with HoFH exhibited similar ages at diagnosis and untreated LDL cholesterol levels. However, there was a notable difference in the prevalence of smoking, with a higher percentage of men reporting smoking compared to women.

Despite similar levels of lipid-lowering treatment, including the use of statins and lipoprotein apheresis, men had a higher prevalence of myocardial infarction compared to women. However, the age at first MI was similar between the sexes.

Significantly, 16 years post-diagnosis, women had a lower cumulative incidence of MI and a trend towards lower all-cause and cardiovascular mortality compared to men. These findings underscore the importance of early diagnosis and treatment in mitigating the heightened cardiovascular risk associated with HoFH, irrespective of sex.

Reference
Mulder JWCM, Tromp TR, et al; Homozygous Familial Hypercholesterolemia International Clinical Collaborators. Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia. JAMA Cardiol. 2024:e235597. doi: 10.1001/jamacardio.2023.5597. Epub ahead of print. PMID: 38353972; PMCID: PMC10867777.

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