Familial Hypercholesterolemia: Factors Associated with Diagnosis and Age at Diagnosis in Children

Kavrul Kayaalp G., BALCI M. C., Güneş D., GÜNEŞ S., DEMİRKOL M., GÖKÇAY G. F.

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, pp.1-547

  • Publication Type: Conference Paper / Full Text
  • City: İstanbul
  • Country: Turkey
  • Page Numbers: pp.1-547
  • Istanbul University Affiliated: Yes

Abstract

Introduction and objective: Familial hypercholesterolemia (FH) is an important cause of

early cardiovascular mortality. Early diagnosis and factors associated with diagnosis is of

interest to prevent or postpone morbidity. Aim of this study was to investigate these factors

and provide data for a future National Screening Strategy.

Patients and methods: A total of 129 patients aged between 0-18 years and diagnosed with

FH were retrospectively evaluated. Factors affecting age at diagnosis, lipid profile at

diagnosis, physical examination findings, reasons for the initial lipid profile examination and

how the diagnosis was made, presence of familial history of hypercholesterolemia, early

cardiac ischemic disease or early cerebrovascular accident, sudden death at an early age and

history of parental consanguineous marriage were investigated.

Results: Among 129 patients, 79.8% had heterozygous and 20.2% had homozygous FH. The

mean total cholesterol and LDL-cholesterol values were 413,91±218,42 mg/dl and

341,06±216,80 mg/dl, respectively. Significant differences were found between VLDLcholesterol,

HDL-cholesterol and triglyceride levels among homozygous and heterozygous

groups (p<0.05). The most common reason for admission was not associated with FH

(35.9%) in the heterozygous group and clinical findings (76.9%) in the homozygous group.

Familial history of hypercholesterolemia was present in 94.6%, early heart disease in 57.3%,

parental hypercholesterolemia in 88.3% of patients. Mean age at diagnosis was 8,15±3,95

years in heterozygous group and 7,51±4,89 years in homozygous group (p>0.05). There was

no correlation between familial risk factors and age at diagnosis.

Conclusion: The results indicate incidental or post-symptomatic diagnosis of FH despite

identifiable familial risk factors. Furthermore data analysis showed no correlation of

identifiable familial risk factors with earlier diagnosis. These results indicate the lack of focus

on identifiable familial risk factors during routine follow-ups. The link between identifiable

risk factors and earlier diagnosis may be reached through a National Screening Strategy to

be developed in the light of further studies.