Familial Hyperlipidemia
Conditions
Keywords
Cholesterol, School based, Biometric Screening, Genetic, Healthy Hearts, Children
Brief summary
If a child from the Healthy Hearts and Minds education and screening program is found to have a genetic marker for familial hyperlipidemia (FH), immediate family members are offered genetic testing at no charge to identify those at high risk for cardiovascular disorders and those who carry the genetic markers. If identified early, the risk for cardiovascular disease can be greatly modified by early and proper treatment. The aim of the study is to gauge the impact of large-scale surveillance testing to identify those with the disorder and improve clinical care. This impact is both in disease prevention and in lessening the cost of long-term care from premature cardiovascular disease.
Interventions
None listed
Sponsors
Study design
Eligibility
Inclusion criteria
\* Primary family member of child from school screening program with documented familial hyperlipidemia (FH) variant
Exclusion criteria
* none
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Familial Hypercholesterolemia (FH) Determination for Family Members of School Children With Elevated Cholesterol and Documented FH Variant | The duration of participation in study is one day. | Individuals with elevated cholesterol group with familial hypercholesterolemia genotype. |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Observational Registry Cohort The aim of the study is to identify children and families that are at risk for cardiovascular disease because of a condition known as familial hyperlipidemia. This condition may increase the risk of cardiac events such as hardening of the arteries anywhere in the body which can result in heart attacks, strokes, and death over ten fold.
Children have already been assessed in the Healthy Hearts screening program and identified as having elevated cholesterol. A buccal smear will identify whether the familial hyperlipidemia condition exist in your child.
If the child's test shows that they have the specific gene for familial hyperlipidemia and shows a genetic tendency towards premature heart disease, we would encourage genetic testing for as many blood family members as possible.
The study plan is to determine whether the Healthy Hearts screening program is a more effective way of identifying students at risk since it is estimated that less than 10% of those individuals with the problem have been identified. If it is effective, then it will be incorporated as part of the standard screening process in the Healthy Hearts program. | 11 |
| Total | 11 |
Baseline characteristics
| Characteristic | Observational Registry Cohort |
|---|---|
| Age, Categorical <=18 years | 5 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 6 Participants |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants |
| Race (NIH/OMB) Asian | 0 Participants |
| Race (NIH/OMB) Black or African American | 0 Participants |
| Race (NIH/OMB) More than one race | 0 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 0 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 6 Participants |
| Race (NIH/OMB) White | 5 Participants |
| Region of Enrollment United States | 11 participants |
| Sex: Female, Male Female | 5 Participants |
| Sex: Female, Male Male | 6 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 0 / 11 |
| other Total, other adverse events | 0 / 11 |
| serious Total, serious adverse events | 0 / 11 |
Outcome results
Familial Hypercholesterolemia (FH) Determination for Family Members of School Children With Elevated Cholesterol and Documented FH Variant
Individuals with elevated cholesterol group with familial hypercholesterolemia genotype.
Time frame: The duration of participation in study is one day.
Population: Individuals with elevated cholesterol group with familial hypercholesterolemia genotype.~Not enough subjects participating to allow statistical analysis.
| Arm | Measure | Group | Value (NUMBER) |
|---|---|---|---|
| Observational Registry Cohort | Familial Hypercholesterolemia (FH) Determination for Family Members of School Children With Elevated Cholesterol and Documented FH Variant | Positive | 3 participants |
| Observational Registry Cohort | Familial Hypercholesterolemia (FH) Determination for Family Members of School Children With Elevated Cholesterol and Documented FH Variant | Negative | 8 participants |