SUCCESSFUL PREGNANCY IN A HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA PATIENT REQUIRING LIPID APHERESIS AND MULTIDISCIPLINARY TEAM MANAGEMENT

Abstract

INTRODUCTION/BACKGROUND
Familial hypercholesterolemia (FH) is an inherited disorder of lipid metabolism mainly due to the mutation of the lowdensity lipoprotein (LDL)-receptor gene (LDLR). The more severe homozygous form of the disease is characterised by premature atherosclerotic disease before 20 years old. Pregnancy in women with homozygous familial hypercholesterolemia (HoFH) can be fatal to both mother and foetus. Since Lipid Apheresis (LA) is scarce in Asia and statin generally is contraindicated in pregnancy, treatment to keep low-density lipoprotein-cholesterol (LDL-C) at low levels remain challenging during pregnancy, necessitating a multidisciplinary team approach. We illustrate the case of a 24-year-old primigravida with HoFH who underwent LA and successfully delivered her baby at 35 weeks age of gestation.

CASE
A 24-year-old female diagnosed with HoFH at 7 years old, presented at 7 weeks pregnancy with hyperemesis gravidarum. She previously required regular plasma exchange from the age of 8 but subsequently defaulted treatment at 16 years old. Clinical examination revealed widespread multiple xanthomata over both hands, feet and elbows. Her baseline total cholesterol was 15 mmol/L and LDL-C was 13.2 mmol/L. She was initiated on bi-weekly plasma exchange. However, she developed intradialytic hypotension complicated by fistula failure following a second exchange, which necessitate double filtration plasmapheresis (DFPP), which is more specific for lipid apheresis. The LDL-C levels were reduced by an average of 46% following each treatment. Her pregnancy was complicated by two hospitalisations for suspected Acute Coronary Syndrome. Cardiology referral was made for re-assessment of coronary arteries. Fortunately, echocardiography and dobutamine stress test both showed normal findings. At 35 weeks of gestation, the patient successfully delivered a healthy baby boy weighing 1.6 kg via emergency caesarean section for foetal complication with good Apgar score.

CONCLUSION
This case demonstrated a favourable pregnancy outcome when LA along with good multidisciplinary support was utilized in a pregnant patient with HoFH.