TY - JOUR
T1 - Chylomicronemia through a burr hole
T2 - A case report
AU - Loh, Wann Jia
AU - Bakthavachalam, Ramesh
AU - Subramaniam, Tavintharan
AU - Pek, Sharon
AU - Chua, Fionn
AU - Lee, Lester
AU - Watts, Gerald F.
N1 - Funding Information:
The funding for the DNA sequencing test was supported by the Alexandra Health Fund, Singapore.
Publisher Copyright:
Copyright © 2022 Loh, Bakthavachalam, Subramaniam, Pek, Chua, Lee and Watts.
PY - 2022/10/12
Y1 - 2022/10/12
N2 - Chylomicronemia has either a monogenic or multifactorial origin. Multifactorial chylomicronemia is the more common form and is due to the interaction of genetic predisposition and secondary factors such as obesity, diabetes, unhealthy diet, and medications. We report a case of a 38-year-old man who was diagnosed with multifactorial chylomicronemia following presentation with a subarachnoid hemorrhage requiring emergency surgery through a burr hole; lactescent cerebrospinal fluid mixed with blood was observed through the burr hole. The serum triglyceride concentration was 52⋅4 mmol/L with a detectable triglyceride concentration in the cerebrospinal fluid. Rapid weight gain leading to obesity and related unfavorable lifestyle factors were identified as key secondary causes of chylomicronemia. Gene testing revealed a homozygous variant in APOA5 and a heterozygous common variant in GPIHBP1. Accompanied with secondary causes, the interactions of gene and environmental conditions contribute to chylomicronemia. With aggressive medical treatment including excess weight loss, healthy diet, cessation of alcohol, and combination of anti-lipemic medications, normal plasma triglyceride levels were achieved.
AB - Chylomicronemia has either a monogenic or multifactorial origin. Multifactorial chylomicronemia is the more common form and is due to the interaction of genetic predisposition and secondary factors such as obesity, diabetes, unhealthy diet, and medications. We report a case of a 38-year-old man who was diagnosed with multifactorial chylomicronemia following presentation with a subarachnoid hemorrhage requiring emergency surgery through a burr hole; lactescent cerebrospinal fluid mixed with blood was observed through the burr hole. The serum triglyceride concentration was 52⋅4 mmol/L with a detectable triglyceride concentration in the cerebrospinal fluid. Rapid weight gain leading to obesity and related unfavorable lifestyle factors were identified as key secondary causes of chylomicronemia. Gene testing revealed a homozygous variant in APOA5 and a heterozygous common variant in GPIHBP1. Accompanied with secondary causes, the interactions of gene and environmental conditions contribute to chylomicronemia. With aggressive medical treatment including excess weight loss, healthy diet, cessation of alcohol, and combination of anti-lipemic medications, normal plasma triglyceride levels were achieved.
KW - cerebrospinal fluid (CSF)
KW - chylomicronaemia syndrome
KW - hypertriglyceridemia
KW - lactescent subarachnoid haemorrhage
KW - multifactorial chylomicronaemia syndrome
KW - polygenic chylomicronemia
KW - purulent cerebrospinal fluid
KW - triglyceride (TG)
UR - http://www.scopus.com/inward/record.url?scp=85140597426&partnerID=8YFLogxK
U2 - 10.3389/fcvm.2022.1020397
DO - 10.3389/fcvm.2022.1020397
M3 - Article
C2 - 36312279
AN - SCOPUS:85140597426
SN - 2297-055X
VL - 9
JO - Frontiers in Cardiovascular Medicine
JF - Frontiers in Cardiovascular Medicine
M1 - 1020397
ER -