Endocrine Abstracts

Aim: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by increased levels of low density lipoprotein cholesterol (LDL-chol). Despite relatively high prevalance and significant association with increased mortality, the awareness of physicians and patients is low and it is an underdiagnosed and undertreated disease. We aimed to detect patients with FH and determine treatment status and compliance.

Materials and methods: Patients >18 years old and have a serum LDL-chol≥250 mg/dL between January 2010-December 2016 were identified from the database of our hospital. A survey was performed by reaching patients via phone. Demographic features, smoking status, use of alcohol, exercise, presence of cardiovascular disease (CVD), use of medication for dyslipidemia, CVD and high cholesterol levels in the family were questioned. Patients with a serum thyrotrophin≥10 mIU/mL, patients with glomerulonephritis and nephrotic syndrome, patients with high liver enzymes and patients with serum triglyceride >400 mg/dL were excluded. DUTCH lipid diagnostic criteria was used to classify patients.

Results: LDL-chol was ≥250 mg/dL in 1918 measurements. When repeated measurements were excluded, 1365 patients were identified. Patients that could not be reached by phone and who refused to interview were excluded and data of 367 patients were analyzed. There were 248 (67.6%) female and 119 (32.4%) male patients and mean age was 50.5±11.66. LDL-chol was ≥330 mg/dL in 50 (13.6%) and 250–329 mg/dL in 317 (86.4%) patients. Mean DUTCH score was 6.36±1.63. 40 (10.9%) patients were classified as definite, 181 (49.3%) as probable and 146 (39.8%) as possible FH. Among patients with definite or probable FH, 84 (38.0%) had CVD. DUTCH scores were 8.09±1.54 and 6.74±1.31 in patients with and without CVD, respectively. Considering all patients, 42% were taking medication for dyslipidemia. Among 213 patients that were not on antilipidemic treatment, 162 (76.1%) stated that medication was never recommended previously, 30 (14.1%) had stopped medication him/herself and 21 (9.8%) had stopped medication with the advice of the physician. 49 (58.3%) definite or probable FH patients with CVD was taking antilipidemic treatment.

Conclusion: A significant proportion of patients with LDL-chol≥250 mg/dL were not taking antilipidemic drugs and other cardiovascular risk factors were not under control. Similar with many other countries, diagnosis and treatment rates of FH patients were very low in our country. Further national studies are required to increase awareness of the disease in both physicians and patients.