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Published on: September 15, 2018
Pregnancy in homozygous familial hypercholesterolemia-A case series
Milan Bláha1, Kateřina Veletová2, Vladimír Blaha2
1The 4th Department of Internal Medicine - Haematology, Charles University and University Hospital in Hradec Králové, Hradec Králové, Czech Republic.
Insights
Pregnancy in women with homozygous familial hypercholesterolemia (HoFH) poses significant risks. However, with careful management, including LDL-apheresis, patients without cardiovascular disease may have a favorable prognosis.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FH) is an inherited disorder causing lifelong high LDL-C levels and premature atherosclerosis.
- Pregnancy exacerbates risks for FH patients due to physiological changes and limited treatment options.
- Extracorporeal LDL-apheresis is a potential therapeutic strategy for managing FH during pregnancy.
Purpose of the Study:
- To evaluate the risks and outcomes of pregnancy in women with homozygous familial hypercholesterolemia (HoFH).
- To assess the role of LDL-apheresis in managing HoFH pregnancies.
Main Methods:
- Case report series of six HoFH women detailing 13 pregnancies.
- Analysis of pregnancy outcomes including successful births, abortions, and interruptions.
- Inclusion of cases treated with LDL-apheresis.
Main Results:
- Pregnancy in HoFH women carries substantial risks, including one lethal complication.
- Nine pregnancies resulted in successful outcomes.
- Two successful pregnancies were managed with LDL-apheresis.
Conclusions:
- HoFH pregnancies present significant risks but can have good outcomes for patients without cardiovascular decompensation.
- LDL-apheresis is a crucial intervention for managing HoFH during pregnancy.
Introduction:
Familial hypercholesterolemia (FH) is an autosomal codominant lipid metabolism disorder. It results in lifelong elevation of plasmatic low-density lipoprotein cholesterol (LDL-C) levels, followed by premature atherosclerosis. In women, pregnancy and lactation represent an additional risk due to association of physiological changes, pre-existing dyslipidemia, and limited therapeutic possibilities and experiences. Methods of extracorporeal LDL-apheresis represent a suitable therapeutic approach.
Case Series:
We present our experience in case reports of six HoFH women and their 13 pregnancies (nine successful, three abortions, and one interruption). One patient experienced a lethal complication of her pregnancy. Of the nine successful pregnancies, two cases were treated by LDL-apheresis.
Conclusion:
Pregnancy in HoFH women represents substantial risk; however, patients without signs of decompensated cardiovascular disease can have a good prognosis. LDL-apheresis plays an important role in the management of pregnancy in HoFH.
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