Familial Hypercholesterolemia
Conditions
Keywords
Familial Hypercholesterolemia
Brief summary
The registry is maintained at the Regional Centre for Rare Diseases, established in 2016, within Polish Mother's Memorial Hospital Research Institute. This facility diagnoses and treats over 80 distinct rare diseases in patients from across the country, including those with phenotypically or genetically confirmed familial hypercholesterolemia (FH).
Detailed description
All consecutive patients diagnosed with FH, including both children and adults, are being enrolled from December 2018 to May 2024. Each patient receives a consultation with a clinical geneticist and a dietitian, who provide recommendations for cascade screening among family members and promote a healthy and balanced diet. The study includes all index cases, with children also serving as index cases. The PMMHRI FH registry is managed by physicians from the RCRD, who exclusively make all diagnostic and treatment decisions. The purpose of the registry is to investigate the clinical characteristics, diagnosis, management, achievement of therapeutic goals, and outcomes of FH patients. Inclusion criteria are based on phenotypic or genetic diagnosis of FH. Phenotypic diagnosis is conducted using the Dutch Lipid Clinic Network criteria for adults, and the Simon Broome criteria for children. During the baseline visit, comprehensive data collection includes all available lipidogram results, aiming to obtain naive LDL-C values, highest values, and treated values. All data collected during the enrollment period are included in the study.
Interventions
None listed
Sponsors
Polish Mother Memorial Hospital Research Institute
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
1 Days to No maximum
Healthy volunteers
No
Inclusion criteria
* FH diagnosis
Exclusion criteria
\-
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Therapeutic goals achivement | 5 years | For each patient, we collect data on the levels of all lipid profile fractions: such as total cholesterol \[mg/dl\], low density lipoprotein cholesterol - LDL \[mg/dl\], high density lipoprotein cholesterol HDL \[mg/dl\], triglycerides \[mg/dl\], non-HDL \[mg/dl\] and lipoprotein(a) during both dual and triple therapy. Additionally, we will assess the achievement of the therapeutic target as defined by the ESC guidelines. The therapeutic target for each patient will be evaluated individually based on their risk, in accordance with the ESC guidelines. |
Countries
Poland
Contacts
Primary ContactMaciej Banach, MD,PhD,FNLA,FAHA,FESC,FASA
Backup ContactJoanna Lewek, MD, PhD
Outcome results
None listed