Awareness, sufficient treatment and treatment compatibility ratings in possible, probable and definite family hypercolesterolemia patients whose ldl cholesterol level is 250 MG/DL and higher than 250 MDL

Aim: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by increased levels of low density lipoprotein (LDL) cholesterol. High LDL cholesterol from infancy or childhood causes premature coronary heart disease (CHD). Although it is associated with significantly increased mortality, the awareness among both physicians and patients is low. Thus, diagnosis and treatment rates are low in all over the world. In this study, we aimed to detect patients with FH and determine treatment status and compliance in these patients. Additionally, we aimed to assess hypercholesterolemia associated complications and to increase the awareness of the disease. Materials and Methods: Patients older than 18 years old and have a serum LDL cholesterol level of ≥250 mg/dL between January 2010 and December 2016 were identified from the database of Ankara Ataturk Education and Research Hospital. A survey was performed by reaching patients via phone. Demographic features, smoking status, use of alcohol, exercise and use of medication for dyslipidemia were determined. Presence of cardiovascular disease and other metabolic diseases in the patients, and cardiovascular disease and high cholesterol levels in the family were questioned. Patients with a history of coronary artery bypass grafting or coronary stent or patients who underwent coronary angiography and diagnosed to have stenosis that requires medical treatment were defined to have CHD. Patients with a history of ischemic stroke were determined to have cerebrovascular disease. Presence of stenosis in carotid artery, femoral artery or any other peripheral artery was defined as peripheral artery disease (PAD). Lipid profile, creatinin, alanine aminotransferase (ALT), aspartat aminotransferase (AST) and thyrotrophin (TSH) levels at the time of high LDL cholesterol were retrospectively searched and noted in patients who underwent survey. Patients with a serum TSH higher than 10 mIU/mL, patients with glomerulonephritis and nephrotic syndrome and patients with high ALT and AST levels were excluded from the study. Patients with serum triglyceride >400 mg/d were also excluded if LDL cholesterol had decreased after normalization of triglyceride. DUTCH lipid diagnostic criteria was used to classify patients. Results: LDL cholesterol was higher than 250 mg/dL in 1918 measurements. When repeated measurements in the same patients were excluded, 1365 patients were identified. Phone contact was made in 573 (42.0%) patients and 442 (77.1%) of them accepted to be included in the study. After exclusion, 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 cholesterol 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 and 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 cardiovascular disease. Mean age of patients with cardiovascular disease was significantly higher than patients without cardiovascular disease (53.80±9.03 vs 47.28±12.58, p<0.001). DUTCH scores were 8.09±1.54 and 6.74±1.31 in patients with and without cardiovascular disease, 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 cardiovascular disease was taking antilipidemic treatment. Conclusion: Despite relatively high prevalance, FH is an underdiagnosed and undertreated disease. In this study, we observed that a significant proportion of patients with LDL cholesterol higher than 250 mg/dL are not taking antilipidemic drugs and other cardiovascular risk factors are not under control in these patients. In addition, rate of non-treatment by physicians was high even in patients with known cardiovascular disease. 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. Key Words: Familial hypercholesterolemia, hyperlipidemia, cardiovascular disease, coronary heart disease