Familial Hypercholesterolemia (FH) in Iran: Findings from the Four-Year FH Registry

Abstract

Background. Familial hypercholesterolemia (FH) is a common autosomal dominant disease. Its diagnosis in Iran was uncommon. Iran registry of FH (IRFH) has been started from 2017 from Isfahan. In this study, we report the four-year FH registry. Methods. The Iran FH registry is an ongoing study which is followed by a dynamic cohort. It has been started from 2017. The patients are selected from laboratories due to high cholesterol level and who have history of premature cardiovascular disease. The Dutch Lipid Clinic Network (DLCN) criteria are used for the detection of FH. Cascade screening is performed for detection of first-degree relative of patients. Results. Among the 997 individuals included in this registry, they were 522 (mean age $51.41\pm 12.91$ year), 141 (mean age $51.66\pm 8.3$ year), and 129 (mean age $41\pm 16.5$ year) patients from laboratories, premature cardiovascular disease, and relatives, respectively. In total, 263 patients were diagnosed with probable or definite FH, and others were in the possible group. Low-density lipoprotein cholesterol (LDL) level was $141.42\pm 45.27\text{mg}/\text{dl}$ in the laboratory group and 54.9% of patients were on LLT treatment. In patients with premature cardiovascular disease and FH, the LDL level was $91.93\pm 32.58$ and was on LLT treatment. The LDL concentration in the first relative of FH patients was $152.88\pm 70.77$ and 45.7% of them are on LLT therapy. Conclusions. Most of FH patients were underdiagnosed and undertreated before their inclusion in the IRFH. Cascade screening helps in the improvement of diagnosis.