Familial Hypercholesterolemia
Conditions
Keywords
Breastfeeding, Cardiovascular disease, Pregnancy, Lipid profile, Women
Brief summary
The study aims to investigate the effects of breastfeeding on lipid profile and cardiovascular risk markers in women with familial hypercholesterolemia (FH) compared to women without FH. Women with FH will be recruited in Norway, the Netherlands, and the Czech Republic. Women without FH will be recruited in Norway. Women with and without FH who are pregnant or planning pregnancy will be recruited, and will be invited to repeated study visits from the end of pregnancy and through the first year after delivery. Blood samples and data on anthropometry, health, pregnancy, lifestyle and diet will be collected. Statin transfer into breast milk will also be measured in breast milk samples collected when the women end breastfeeding the child and start statin treatment.
Detailed description
Patients with familial hypercholesterolemia (FH) have elevated plasma levels of LDL-cholesterol from first years of life. Cholesterol burden through life defines risk of cardiovascular disease. In women with FH, cholesterol levels increase during pregnancy both due to physiological changes as well as discontinuation of cholesterol lowering medication during planning of pregnancy, during the pregnancy and during breastfeeding. Few studies on the effects of breastfeeding on lipid profile in women with FH exists. There is also limited data on whether and to what extent the cholesterol lowering statins transfer to breast milk. The study aims to investigate the effects of breastfeeding on lipid profile and cardiovascular risk markers in women with familial hypercholesterolemia (FH) compared to women without FH. Women with and without FH who are pregnant or planning pregnancy will be recruited, and will be invited to repeated study visits from the end of pregnancy and through the first year after delivery. Blood samples and data on anthropometry, health, pregnancy, lifestyle and diet will be collected. Statin transfer into breast milk will also be measured in breast milk samples collected when the FH women end breastfeeding the child and start statin treatment.
Interventions
None listed
Sponsors
Oslo University Hospital
University of Oslo
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
for women with FH: 1. age 18 years or older, 2. confirmed diagnosis of FH through genetic testing or clinical assessment based on the Dutch Lipid Clinic Network, 3. singleton pregnancy in the third trimester, 4. a sufficient command of Norwegian, Dutch, Czech or English language.
Exclusion criteria
for women with FH: * Not filling the inclusion criteria. Inclusion Criteria for women without FH: 1. age 18 years or older, 2. singleton pregnancy in the third trimester, 3. a sufficient command of Norwegian or English language.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in serum lipid profile (total cholesterol, LDL-C, HDL-C, triglycerides, lipoprotein(a)) from 2-4 weeks postpartum up to 12 months postpartum (absolute and relative change). | Up to 12 months after delivery or end of breastfeeding period | Investigate the change in lipid profile (total cholesterol, LDL-cholesterol, HDL-cholesterol and triglycerides) in women with and without familial hypercholesterolemia, by blood sampling at repeated time points during breastfeeding period. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Association between breastfeeding (yes/no, exclusive/partial, frequency, and duration) and inflammatory markers (e.g. C-reactive protein (CRP). | Up to 12 months after delivery or end of breastfeeding period | Investigate the association between breastfeeding (yes/no, exclusive/partial, frequency, and duration) and inflammatory markers (e.g. C-reactive protein) in women with and without familial hypercholesterolemia. Measurements will be performed in both plasma/serum and in peripheral blood mononuclear cells (PBMC) (gene expression levels). |
| Association between breastfeeding (yes/no, exclusive/partial, frequency, and duration) and metabolic markers (e.g. glucose). | Up to 12 months after delivery or end of breastfeeding period | Investigate the association between breastfeeding (yes/no, exclusive/partial, frequency, and duration) and metabolic markers (e.g. glucose) in women with and without familial hypercholesterolemia. Measurements will be performed in both plasma/serum. |
| Association between breastfeeding (yes/no, exclusive/partial, frequency, and duration) and maternal weight. | Up to 12 months after delivery or end of breastfeeding period | Investigate the association between breastfeeding (yes/no, exclusive/partial, frequency, and duration) and maternal weight in women with and without familial hypercholesterolemia. |
| Investigate the breast milk composition (lipids and metabolites) throughout the breastfeeding period. | Up to 12 months after delivery or end of breastfeeding period | Perform lipid profiling (lipidomics) and metabolite profiling (metabolomics) and analyze contaminants in breast milk samples of women with FH and without FH. Breast milk samples will be collected at repeated time points through breast feeding period |
| Investigate the concentration of statins in the breast milk and dried blood spot of the offspring of women with FH after start of lipid-lowering medication. | Repeated milk sampling up to one week after start of ordinary statin treatment. | Investigate the concentration of statin (HMG-CoA reductase inhibitors) (e.g. atorvastatin, rosuvastatin) in breast milk and dried blood spot of the offspring, if possible when the women re-start ordinary treatment. Fewer samples are expected from this time point, as it may be challenging to synchronize the initiation of lipid-lowering treatment with the end of breastfeeding. |
| Investigate the concentration of total cholesterol and metabolic markers in dried blood spots collected at 12 months postpartum in offspring of women with FH | Measurement at infant age 12 months | Investigate the concentration of total cholesterol and other metabolic markers in infants of women with FH, at 12 months of age, using dried blood spots (DBS). |
Countries
Czechia, Netherlands, Norway
Contacts
PRINCIPAL_INVESTIGATORKirsten Holven, PhD
Oslo University Hospital
Outcome results
None listed