Endocrine Abstracts

Objective: To determine the characteristics of patients with familiar hypercholesterolemia studied in a specific unit of lipids.

Material and methods: A descriptive study of patients followed in our unit over the last 16 years diagnosed with heterozygous familial hypercholesterolemia (HFH) or familial combined hyperlipidemia (FCH).

Results: Data from 111 patients were analyzed: 66 with HFH and 45 with FCH.

Features of patients with HFH were: mean age 49.4±15.8 years, 62.1% females, with a mean follow-up of 7.9±8.7 years. The more frequent reason to start study was the screening from family hypercholesterolemia (44.7%). 25.4% had hypertension, 16.7% diabetes, 18.4% were obese, 22.8% were smokers and 9.1% had prior CVD at first visit. 65.9% had already started treatment prior to our first visit (26.5% atorvastatin and 23.5% simvastatin). Currently 91.4% are taking statins (rosuvastatin 36.2% and atorvastatin 31%) and 57.9% ezetimiba. 69.1% perform daily physical exercise and 67.4% perform diet adequately.

Features of patients with HFC were: mean age 57.7±11.2 years, 60% males, with a mean follow-up of 9.1±7.4 years. The more frequent reason to start study was because incidental finding in analytical (63.9%). 48.9% had hypertension, 42.3% diabetes, 36.4% were obese, 22.5% were smokers and 17.5% had CV events prior to first visit. 48.4% had already started treatment prior to our first visit (21.1% atorvastatin). Currently 85.4% are taking statins (46.3% rosuvastatin and fluvastatin 22%), fenofibrate 65.9%, omega 3 29.3% and ezetimibe 31.7%. 58.3% perform daily physical exercise and 37.5% perform diet adequately.

Conclusion: HFH patients are more aggressively treated, have fewer cardiovascular risk factors and perform exercise and diet in a high percentage. HFC patients are frequently underdiagnosed and undertreated, have high frequency of cardiovascular risk factors and perform changes in lifestyle infrequently.