Publication details
ATYPICAL PHENOTYPE OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
| Authors | |
|---|---|
| Year of publication | 2017 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | Aim: Homozygous familial hypercholesterolemia (HoFH) is the most serious hereditary dyslipidemia with prevalence about 1/160 000. If untreated, patients may develop coronary heart disease in very young age. Typical phenotype of HoFH is severe hypercholesterolemia with normal or slightly elevated triglycerides. Methods: Case report: 39 years old asymptomatic female treated with fenofibrate 200 mg/day visited our centre with lipid levels: T-CH 15.2 mmol/l, HDL-CH 1.26 mmol/l and triglycerides 16.2 mmol/l, LDL-CH couldn´t be calculated. ApoB was 1.84 g/l, TSH 1.18 mU/l. Secondary dyslipidemia was excluded. We analyzed genes for LDL-receptor, apo B, apo E and lipoprotein lipase (LPL). We performed the measurement of LPL activity and separation of plasma lipoproteins by ultracentrifugation (UC) as well. Results: Dysbetalipoproteinemia has been excluded (genotype apo E3/4) but surprisingly, HoFH (mutation p.Gly592Glu on both alleles of the LDL-receptor gene) has been detected. Furthermore, no functionally significant mutation in the LPL gene has been found. According to UC results, cholesterol and triglycerides were mostly carried by triglyceride-rich lipoproteins (d<1.006 g/ml). In addition to already mentioned examinations, we performed echocardiography (moderate aortal stenosis), coronarography (severe multiple coronary stenoses) and carotid sonography (carotid arteries were unaffected). Based on these results, urgent stenting was performed. Conclusions: In patient with severe hypertriglyceridemia, the HoFH with silent coronary ischemia has been confirmed. Cause of very high triglycerides remains still undetermined. |