Characteristics and management of 1093 patients with clinical diagnosis of familial hypercholesterolemia in Greece: Data from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH).

BACKGROUND AND AIMS: Although familial hypercholesterolemia (FH) is one of the most common genetic disorders, it remains largely underdiagnosed and undertreated. The Hellenic Atherosclerosis Society has established the Hellenic Familial Hypercholesterolemia (HELLAS-FH) Registry, part of the Familial Hypercholesterolemia Studies Collaboration (FHSC), to evaluate the characteristics and management of patients with FH in Greece. METHODS: Patients with diagnosed FH were recruited by a network of sites throughout Greece. The prevalence of cardiovascular disease (CVD) risk factors, as well as management of FH, was recorded. RESULTS: This interim analysis included 1093 patients (556 male; 950 adults). The median age of FH diagnosis was 42.2 years (interquartile range 27.2-53.0). A family history of CVD was present in 47.8%, while 21.1% of patients had a personal history of CVD. At diagnosis, low-density lipoprotein cholesterol (LDL-C) was 241 ±â€¯76 mg/dL in adults and 229 ±â€¯57 mg/dL in children. Overall, 63.1% of the patients were receiving hypolipidemic drug treatment, mainly statins, at inclusion in the registry. Mean LDL-C of patients receiving drug treatment was 154 ±â€¯76 mg/dL in adults and 136 ±â€¯47 mg/dL in children. The majority of treated patients (87.9%) did not achieve LDL-C targets. CONCLUSIONS: FH in Greece is characterized by a significant delay in diagnosis and a high prevalence of both family and personal history of established CVD. The vast majority of FH patients do not achieve LDL-C targets. Improved awareness and management of FH are definitely needed.

Rising serum 25-hydroxy-vitamin D levels after weight loss in obese women correlate with improvement in insulin resistance.

OBJECTIVE: The objective of the study was to examine changes of 25-hydroxy-vitamin D (25OHD) and PTH blood levels 4 and 20 wk after low-calorie diet-induced weight loss. METHODS: Forty-four obese women [aged 40.6 +/- 11.4 yr, body mass index (BMI) 36.7 +/- 4.9 kg/m(2)] and 25 controls (BMI 22.9 +/- 1.5 kg/m(2)) were examined. Anthropometric and cardiometabolic parameters and 25OHD and PTH levels were determined at baseline and 4 and 20 wk after a low-calorie diet. RESULTS: At baseline, 25OHD levels were lower in obese compared with control subjects (17 +/- 6.0 vs. 23.8 +/- 8.7 ng/ml, P < 0.001), whereas no differences were found in PTH levels. In all women, a negative correlation was found between 25OHD levels and body weight (BW) (r -0.32, P < 0.001), BMI (r -0.37, P < 0.001), waist circumference (r -0.26, P < 0.05), and percent fat mass (r -0.38, P = 0.001) as determined by bioelectrical impedance analysis. The 4-wk low-calorie diet (n = 37) reduced BW and led to significant improvements in the homeostasis model assessment (HOMA) index and lipid levels. The 20-wk low-calorie diet (n = 26) resulted in reduction of BW and BMI by 10%, HOMA index (4.7 +/- 3.8 vs. 3.10 +/- 1.7, P < 0.01), and lipids levels (except high density lipoprotein cholesterol) and increase in 25OHD (15.4 +/- 6.0 vs. 18.3 +/- 5.1 ng/ml, P < 0.05), compared with baseline. PTH levels were unchanged. The increase of 25OHD levels was associated with the reduction of insulin levels and HOMA index (r -0.43, P < 0.05). CONCLUSIONS: Blood 25OHD levels were low in obese women and correlated inversely with severity measures of obesity. Weight loss of 10% after low-calorie diet increased 25OHD levels, and this increase was mainly associated with improvement of insulin resistance.