Pregnancy in homozygous familial hypercholesterolemia--Importance of LDL-apheresis.
BACKGROUND
Rare cases of pregnancy in women with homozygous familial hypercholesterolemia (HFH) have been reported. HFH might pose significant risks for the mother and her fetus. Statins, the most potent agents for low-density lipoprotein (LDL) cholesterol reduction, are contraindicated; thus lipoprotein apheresis remains the only effective treatment.


METHODS
We report on a 34-year-old pregnant woman with HFH who was treated throughout the entire pregnancy by lipoprotein apheresis (immunoadsorption method). Increasing levels of LDL-cholesterol were stabilized at 9-10 mmol/L by lipoprotein apheresis (performed every 10 days). No complications were observed during the treatment procedures. Monitoring of the fetus revealed no impairment of the umbilical cord and blood flow in the uterine arteries, as well as no intrauterine growth retardation. The delivery was spontaneous and the child was breastfed for two months.


CONCLUSIONS
Intensive treatment by lipoprotein apheresis is an effective and safe therapeutic strategy during pregnancy, even in severe cases of HFH, as it can stabilize progressively increasing lipoprotein levels and prevent severe complications.
4th Department of Internal Medicine - Haematology, Charles University, Faculty of Medicine and Teaching Hospital, Hradec Králové, Czech Republic.
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M
Blaha
4th Department of Internal Medicine - Haematology, Charles University, Faculty of Medicine and Teaching Hospital, Hradec Králové, Czech Republic.
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M
Lanska
3rd Department of Medicine - Metabolic Care and Gerontology, Charles University, Faculty of Medicine and Teaching Hospital, Hradec Králové, Czech Republic.
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V
Blaha
Department of Obstetrics and Gynecology, Charles University, Faculty of Medicine and Teaching Hospital, Hradec Králové, Czech Republic.
L
L
Boudys
4th Department of Internal Medicine - Haematology, Charles University, Faculty of Medicine and Teaching Hospital, Hradec Králové, Czech Republic. Electronic address: pavel.zak@fnhk.cz.
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P
Zak
D015415:Biomarkers / Q000097:blood; D001781:Blood Component Removal / Q000379:methods*; D008078:Cholesterol, LDL / Q000097:blood*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D007163:Immunosorbent Techniques; D050498:Live Birth; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D011248:Pregnancy Complications / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D011973:Receptors, LDL / Q000235:genetics*; D012720:Severity of Illness Index; D013997:Time Factors; D016896:Treatment Outcome
D015415:Biomarkers; D008078:Cholesterol, LDL; C573412:LDLR protein, human; D011973:Receptors, LDL
Extracorporeal elimination; Homozygous familial hyperlipoproteinemia; LDL-cholesterol; Lipoprotein apheresis; Pregnancy; Therapeutic hemapheresis