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[An abnormal lipid profile: when to perform additional research for a genetic cause?]
Britt E Heidemann1, Monique Prinssen2, A D Marais3
1Universitair Medisch Centrum Utrecht, afd. Vasculaire Geneeskunde, Utrecht.
Nederlands Tijdschrift Voor Geneeskunde
|January 12, 2023
Summary
Identifying the genetic cause of lipid disorders is crucial. Genetic testing for dyslipidaemia aids in prognosis, treatment, and family screening.
Area of Science:
- Cardiovascular Medicine
- Human Genetics
- Metabolic Disorders
Context:
- Lipid profile abnormalities are frequent but often lack clear etiology.
- Secondary causes of dyslipidaemia must be ruled out before considering primary causes.
- Primary (genetic) dyslipidaemias represent a significant diagnostic challenge.
Purpose:
- To elucidate the diagnostic process for identifying genetic dyslipidaemias.
- To highlight the clinical significance of diagnosing monogenic lipid disorders.
- To underscore the importance of genetic diagnosis for patient management and family implications.
Summary:
- Familial hypercholesterolemia (FH) is the most prevalent monogenic dyslipidaemia.
- Other key genetic lipid disorders include familial dysbetalipoproteinaemia (FD), monogenic chylomicronaemia, and hypoalphalipoproteinemia.
- This viewpoint details the diagnostic pathway for genetic dyslipidaemias through case studies.
Impact:
- Genetic diagnosis influences patient prognosis and informs treatment strategies.
- Identifying genetic dyslipidaemia is essential for cascade screening in affected families.
- Accurate diagnosis enables personalized management of inherited lipid disorders.
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