KYSELÁK Ondřej SOŠKA Vladimír

Year of publication 2018
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Description Aim: Familial hypercholesterolemia (FH) is serious hereditary disease with prevalence about 1/200 in general population. FH is usually caused by mutation in LDL receptor gene, which leads to severe hypercholesterolemia. Typical phenotype of FH patients is very high concentration of LDL cholesterol and Apo B with normal or slightly increased triglycerides. Methods: Case report: During cascade screening in the family of our FH proband (man aged 43 years with confirmed mutation p.Asp266Glu in LDLR gene) we performed biochemical and DNA analysis of his two daughters (22 and 19 years old), which has confirmed the same mutation in both of them. Following laboratory results of these siblings were without hypolipidemic treatment: T-C 7.10 mmol/l, LDL-C 5.0 mmol/l, triglycerides 1.37 mmol/l, Apo B 1.57 g/l and T-C 5.18 mmol/l, LDL-C 3.35 mmol/l, triglycerides 1.29 mmol/l, Apo B 0.90 g/l respectively. Both sisters were without any clinical signs of hypercholesterolemia. Results: We have identified two family members (daughters of FH proband) with heterozygous FH with identical mutation in LDLR gene but with very different phenotype. Conclusions: Diagnostic procedure based only on biochemical analysis of blood lipids can be insufficient to identify all the FH patients in families with heterozygous FH and may lead to diagnostic fail. Therefore, the genetic testing should be performed in all members of FH families.

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