TY - JOUR
T1 - Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection
AU - Thowfeek Zeenath Thaneefa, Mohamed
AU - Amarakoon, Givani
AU - Mendis, Devan
AU - Jasinge, Eresha
AU - Hooper, Amanda J.
AU - Burnett, John R.
PY - 2022/4/1
Y1 - 2022/4/1
N2 - Lipoprotein lipase (LPL) deficiency is an extremely rare disorder of lipid metabolism known to cause hypertriglyceridaemia in childhood. We report the incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory tract infection. The patient was initially treated for a lower respiratory tract infection, but was subsequently found to have milky appearance of the serum, with a triglyceride concentration greater than 1000 mg/dL. Clinical examination revealed hepatosplenomegaly. Genetic analysis showed that the patient was a compound heterozygote for two rare likely pathogenic LPL variants c.808C>G p.(Arg270Gly) and c.1019-3C>G. She was commenced on a low-fat diet with the addition of medium chain triglyceride formula. At follow-up, her serum triglyceride level was normal.
AB - Lipoprotein lipase (LPL) deficiency is an extremely rare disorder of lipid metabolism known to cause hypertriglyceridaemia in childhood. We report the incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory tract infection. The patient was initially treated for a lower respiratory tract infection, but was subsequently found to have milky appearance of the serum, with a triglyceride concentration greater than 1000 mg/dL. Clinical examination revealed hepatosplenomegaly. Genetic analysis showed that the patient was a compound heterozygote for two rare likely pathogenic LPL variants c.808C>G p.(Arg270Gly) and c.1019-3C>G. She was commenced on a low-fat diet with the addition of medium chain triglyceride formula. At follow-up, her serum triglyceride level was normal.
KW - Compound heterozygote
KW - Familial chylomicronaemia
KW - Lipoprotein lipase
KW - LPL deficiency
UR - http://www.scopus.com/inward/record.url?scp=85124245658&partnerID=8YFLogxK
U2 - 10.1016/j.cca.2022.01.016
DO - 10.1016/j.cca.2022.01.016
M3 - Article
C2 - 35085586
AN - SCOPUS:85124245658
SN - 0009-8981
VL - 529
SP - 1
EP - 3
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
ER -