Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection.

Mohamed Thowfeek Zeenath Thaneefa, Givani Amarakoon, Devan Mendis, Eresha Jasinge, Amanda J Hooper, John R Burnett

Clinica chimica acta; international journal of clinical chemistry 2022 Apr 01

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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. Copyright © 2022 Elsevier B.V. All rights reserved.

Citation

Mohamed Thowfeek Zeenath Thaneefa, Givani Amarakoon, Devan Mendis, Eresha Jasinge, Amanda J Hooper, John R Burnett. Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection. Clinica chimica acta; international journal of clinical chemistry. 2022 Apr 01;529:1-3