Related Experiment Videos
[Tracing of patients with familial hypercholesterolemia in the Netherlands]
M A Umans-Eckenhausen1, J C Defesche, R L Scheerder
1Stichting Opsporing Erfelijke Hypercholesterolemie (StOEH), Amsterdam.
Insights
Tracing relatives of familial hypercholesterolaemia (FH) patients using family tree research and DNA diagnostics is feasible. This method successfully identifies new FH cases, including those with elevated cholesterol levels and cardiovascular disease risks.
Area of Science:
- Genetics
- Cardiology
- Public Health
Background:
- Familial hypercholesterolaemia (FH) is an inherited condition causing high cholesterol levels.
- Early detection and treatment of FH are crucial to prevent cardiovascular disease.
- Effective strategies for identifying affected individuals and their relatives are needed.
Purpose of the Study:
- To evaluate the feasibility of tracing relatives of FH patients.
- To assess the utility of family tree research and DNA diagnostics in FH detection.
- To identify untreated FH patients within families.
Main Methods:
- Descriptive study design.
- DNA diagnostics performed on index FH patients and their relatives.
- Family history and LDL cholesterol levels were analyzed.
- Data collected from 1994-1997.
Main Results:
- 3013 individuals were approached, including 146 index patients and 2867 relatives.
- DNA diagnosis of FH confirmed in 1067 relatives (37.2%).
- 32.8% of tested relatives carrying an LDL receptor gene mutation had elevated LDL cholesterol levels.
Conclusions:
- Family tree research combined with DNA diagnostics is a practical approach for tracing FH patients.
- This strategy effectively identifies previously undiagnosed FH cases.
- Early detection facilitates timely intervention and management of cardiovascular risk.
Objective:
To inventory the possibilities of tracing relatives of patients with familial hypercholesterolaemia (FH) by means of family tree research and DNA diagnostics.
Design:
Descriptive.
Method:
Blood from patients with the clinical diagnosis of 'FH' was sent, through one of the lipid outpatient clinics in the country, to the Foundation for Tracing Hereditary Hypercholesterolaemia (StOEH) for DNA examination, to characterize the genetic defect. If a mutation was diagnosed in this index patient, he was invited by telephone by a StOEH staff member to have DNA testing done in relatives (especially those of the first degree). The data were stored in a data base. The analysis concerns the patients approached in 1994-1997, as well as those in whom the serum concentration of LDL cholesterol was also determined in 1993-1995.
Results:
A total of 3013 persons were approached and examined: 146 index patients and 2867 relatives. The DNA diagnosis of 'FH' was made in 1067 relatives (37.2%), 585 (54.8%) women and 482 (45.2%) men. Of these, 21.2% were younger than 20 years, 37.0% 20-39 years, 26.6% 40-59 years and 15.2% > or = 60 years; 44.1% reported being known with a raised cholesterol level, 29.4% were treated with cholesterol-reducing drugs and 6.1% were suffering from a cardiovascular disease. Of the 990 persons in whom the serum LDL cholesterol level was determined, 325 (32.8%) were carriers of a mutation in the LDL receptor gene. 21.2% Of them had a LDL cholesterol level < P95. In the non-carrier group, 14.6% had a serum LDL cholesterol level > P95.
Conclusion:
Tracing FH patients is feasible in practice and leads to detection of as yet untreated patients.