A successful pregnancy outcome of homozygous familial hypercholesterolaemia patient on statin therapy
- Author:
Noor Alicezah Mohd Kasim
1
Author Information
1. Department of Pathology, Faculty of Medicine, Universiti Teknologi MARA (UiTM), Sungai Buloh Campus, Jalan Hospital, 47000 Sungai Buloh, Selangor, Malaysia
- Collective Name:Alyaa Al-Khateeb; Yung An Chua; Abdul Rais Sanusi; Hapizah Mohd Nawawi
- Publication Type:Case Reports
- Keywords:
Homozygous familial hypercholesterolaemia;
LDLR gene;
lipid apheresis;
pregnancy;
statin
- From:The Malaysian Journal of Pathology
2021;43(1):87-93
- CountryMalaysia
- Language:English
-
Abstract:
Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disorder of lipoprotein
metabolism mainly due to mutation of the low-density lipoprotein (LDL)-receptor gene (LDLR).
It is a life-threatening disease that causes accelerated, multi-vessel atherosclerosis presented in
early childhood. Pregnancy in HoFH may pose early coronary morbidity and mortality to both
the foetus and mother. The combination of HoFH and pregnancy can be a fatal condition. While
statins are very effective in lowering low-density lipoprotein cholesterol (LDL-C) levels, they are
generally contraindicated during pregnancy, thus their use during pregnancy is uncommon. On the
other hand, lipid apheresis (LA) has turned into an effective treatment to control cholesterol level
amid pregnancy. However, the procedure is not widely available in our region. To date, there are
scarcely documented case reports of HoFH in pregnancy in which the majority of them underwent
LA to keep LDL-C at a low level. We report a rare case of successful pregnancy outcome of HoFH
patient treated with lipid-lowering drugs including statin without LA therapy. Apart from that, we
also discussed the genetic findings of the proband and all screened family members in which to
the best of our knowledge, the first study using the whole-exome sequencing technique to identify
the causative gene mutations for familial hypercholesterolaemia among the Malaysian population.
- Full text:5.2021my01114.pdf
