Dr Stephanie Smith1, Dr Sheba Jarvis1, Ms Mandish Dhanjal1, Dr Jaimini Cegla1, Dr Shahenaz Walji1, Dr Christopher Baker1, Mr Emad Al Jaaly1, Ms Naomi Primrose1, Dr Vinnie Sodhi1, Dr Charlotte Frise1
1Imperial College Healthcare NHS Trust, London, United Kingdom
Biography:
Stephanie Smith is an Obstetrics and Gynaecology trainee in Kent, Surrey and Sussex, United Kingdom. She is currently completing a Clinical Fellowship in Obstetrics and Obstetric Medicine at Queen Charlotte’s and Chelsea Hospital, Imperial College Healthcare NHS Trust.
Abstract:
Introduction: Homozygous Familial Hypercholesterolamia (HoFH) is a rare condition defined by elevated levels of lowdensity lipoprotein (LDL) and early-onset atherosclerotic disease, with an autosomal dominant inheritance pattern.
Case: A 27-year-old woman was diagnosed with HoFH after ischaemic heart disease was identified aged 15, requiring left anterior descending artery (LAD) stenting. CT coronary angiography aged 23 showed severe narrowing of the right circumflex (RCA). The patient declined to take rosuvastatin and ezetimibe prior to or during pregnancy and commenced lipopheresis from 12 weeks. At 17 weeks she developed increasing angina, with dynamic ECG changes on exercise testing. Coronary angiography showed occlusion of the left circumflex and RCA, with severe disease in the LAD. At 19 weeks she underwent off-pump coronary artery bypass grafting. The LAD and obtuse marginal arteries were grafted, however the RCA was not due to extensive atherosclerotic disease. She was subsequently treated with amlodipine, aspirin, clopidogrel, rosuvastatin and ezetimibe. Post-operatively she made a good recovery. A Tesio line was inserted for long- term access to allow for weekly lipopheresis. She developed gestational diabetes and fetal growth restriction for which labour was induced at 37 weeks. The baby was born by emergency caesarean section due to fetal compromise. The infant was well post-delivery. Postnatally the mother continued weekly apheresis.
Conclusions:
– Women with HoFH are at very high risk of ischaemic heart disease, so vigilance and early investigation is required if symptoms arise in pregnancy
– Rosuvastatin (hydrophilic statin) and ezetimibe use during pregnancy for secondary prevention requires specialist input and patient counselling
– The use of lipophoresis in pregnancy is complex; requiring long-term access, careful electrolyte monitoring and input from multiple specialist teams
– Off-pump cardiac surgery may be associated with improved outcomes as there is high risk of fetal hypoxia and mortality associated with cardio-pulmonary bypass.
Keywords
Homozygous Familial Hypercholesterolamia
Off-pump coronary artery bypass graft
References
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