Lipoprotein Lipase Deficiency
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ORIGINAL ARTICLE
Lipoprotein Lipase Deficiency Shwetha Kuthiroly 1 & Dhanya Yesodharan 1 & Natasha Radhakrishnan 2 & Aparna Ganapathy 3 & Ashraf U Mannan 3 & Michael M. Hoffmann 4 & Sheela Nampoothiri 1 Received: 6 January 2020 / Accepted: 13 April 2020 # Dr. K C Chaudhuri Foundation 2020
Abstract Objectives To analyse the clinical and molecular spectrum of Lipoprotein Lipase (LPL) deficiency and to highlight the effect of a cost-effective indigenous diet for management of this disorder. Methods This is a single-centre retrospective study. Fifteen patients from 14 kindreds with severe hypertriglyceridemia (more than 1000 mg/dl) were evaluated for a period of 12.5 y at Amrita Institute of Medical Sciences, Kerala, India. Results Thirteen of 15 patients were referred after incidental detection of lipemic plasma, 1/15 had chylothorax in the neonatal period and 1/15 had pancreatitis. The mean age of presentation was 7 mo (ranging from 2 d to 4 y), and 20% of the patients had a positive history of consanguinity. Hepatomegaly (15/15), splenomegaly (9/15) and lipemia retinalis (14/15) were common findings. Lipemia retinalis was a useful non-invasive diagnostic tool. All the patients were subjected to diet modification and followed up at regular intervals. Fourteen of 15 complied with the diet, resulting in a dramatic improvement in the fasting lipid profile; only 1/15 developed pancreatitis. Genetic screening analysis was offered to 14/15 patients (1/15 was lost to follow-up); six different variants were identified, of which two were novel variants. Conclusions Lipemic serum, chylothorax and recurrent pancreatitis in children should raise the suspicion of Lipoprotein Lipase deficiency. Early diagnosis and prompt initiation of a stringent fat-restricted diet are the keys to success for the management of LPL deficiency and prevention of pancreatitis. Keywords Lipoprotein lipase deficiency . Diet . Pancreatitis . Lipemia retinalis . Lipemic plasma
Introduction Lipoprotein Lipase (LPL) Deficiency (OMIM # 238600) is a rare autosomal recessive disorder with an estimated prevalence of ~1 in 1,000,000 in the Western population, with an
extremely high prevalence of 19 per 1,000,000 from Eastern Quebec, Canada, due to a founder effect [1]. Currently there is no data regarding the prevalence and molecular spectrum of LPL deficiency in India. This pilot study was conducted to analyse the clinical and molecular spectrum of LPL deficiency and to highlight the effect of a cost-effective indigenous diet for management of this disorder.
* Sheela Nampoothiri [email protected]
Material and Methods 1
Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Aims Ponekkara PO, Cochin, Kerala 682041, India
2
Department of Ophthalmology, Amrita Institute of Medical Sciences & Research Centre, Aims Ponekkara PO, Cochin, Kerala 682041, India
3
Strand Life Sciences, Hebbal PO, Bangalore, Karnataka 560024, India
4
Institute of Clinical Chemistry and Laboratory Medicine, Medical Centre & F
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