a 2019

CHILD WITH FAMILIAL HYPERCHOLESTEROLEMIA PHENOTYPE

KYSELÁK, Ondřej and Vladimír SOŠKA

Basic information

Original name

CHILD WITH FAMILIAL HYPERCHOLESTEROLEMIA PHENOTYPE

Authors

Edition

2019

Other information

Language

English

Type of outcome

Konferenční abstrakt

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Organization unit

Faculty of Medicine

DOI

UT WoS

000482110800668
Změněno: 11/2/2021 11:17, Mgr. Tereza Miškechová

Abstract

V originále

Background and Aims: In patients with familial hypercholesterolemia (FH) is typical biochemical finding highly elevated LDL-C and normal or slightly increased triglycerides (TG). Combined hyperlipidemia is usually found in secondary dyslipidemias associated with hypothyroidism, diabetes or nephrotic syndrome. Methods: Case report: 12-years-old boy with serious hypercholesterolemia was sent to our specialized centre with suspicion of FH (laboratory results 6/2017: Cholesterol 14.5 mmol/l, LDL-C 9.4 mmol/l, TG 2.84 mmol/l). We have excluded hypothyroidism and diabetes, negative urine analysis was reported by a paediatrician. Patient (an athlete with a high physical load) was without any clinical symptoms. DNA analysis did not confirm mutation in genes for apo B-100, LDLR and PCSK9. Further analysis did not confirm neither autosomal recessive hypercholesterolemia (ARH) nor sitosterolemia and the parents of the child had normal cholesterol level. Therefore we repeated complete biochemical analysis and significant proteinuria was found out. Thereafter nephrotic syndrome was confirmed (etiology: Focal Segmental Glomerulosclerosis, FSGS), although the patient had no oedema. Patient is now under the care of specialists in nephrology and pediatric lipidology. Results: We have proved the hypercholesterolemia with FH phenotype associated with nephrotic syndrome in a 12-years-old asymptomatic boy. Conclusions: Biochemical examination of urine should be a part of diagnostic process in every patient with dyslipidemia. Presence of proteinuria is typical sign of nephrotic syndrome which is associated with severe hypercholesterolemia and increased risk of cardiovascular events.