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 ± 12.91 year), 141 (mean age 51.66 ± 8.3 year), and 129 (mean age 41 ± 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 ± 45.27 mg / 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 ± 32.58 and was on LLT treatment. The LDL concentration in the first relative of FH patients was 152.88 ± 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.

The Association of Thyroid‐Stimulating Hormone (TSH) Levels and Lipid Profile in Euthyroid Patients with Familial Hypercholesterolemia

“…The findings from the four-year FH registry are reported elsewhere [ 20 ]. A total of 191 patients were included in this study, 25 (13.1%) of whom had definite or probable, and 103 (51.9%) had a possible diagnosis of FH based on DLCN criteria.…”

Clinical Features of Familial Hypercholesterolemia in Children and Adults in EAS-FHSC Regional Center for Rare Diseases in Poland

“…In the literature, there are other recently published registries of different populations including the following: Iran Registry of FH (IRFH) [ 37 ], Arabian Gulf Region Registry—the Gulf FH Registry [ 38 ], Taiwanese Registry [ 39 ], Mexico Registry [ 40 ], Italian Atherosclerosis Society Network Registry (LIPIGEN) [ 41 ], and Spanish Familial Hypercholesterolemia Longitudinal Study (SAFEHEART) [ 42 ]. All those registries are national ones with higher number of included patients.…”

“…All those registries are national ones with higher number of included patients. The IRFH included 263 adult patients with probable or definite FH with lower than in our population LDL cholesterol levels (142.42 ± 45.27 mg/dL, 3.68 ± 1.17 mmol/L) and lower number of patients on LLT treatment (54.9%) [ 37 ]. The Gulf FH registry, which was multicenter and multinational study, included 306 adult patients with probable or definite FH.…”

“…However, the treatment goal was achieved only in 13.7% of patients [ 40 ]. All those registries conclude that still most of FH patients are underdiagnosed and undertreated [ 37 , 38 , 40 ]. The biggest Taiwanese registry was aimed to assess the spectrum of genetic mutations in adult patients with clinically diagnosed FH.…”