Lipoprotein Lipase Deficiency
| العنوان: | Lipoprotein Lipase Deficiency |
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| المؤلفون: | Dhanya Yesodharan, Aparna Ganapathy, Michael M. Hoffmann, Shwetha Kuthiroly, Ashraf U Mannan, Sheela Nampoothiri, Natasha Radhakrishnan |
| المصدر: | The Indian Journal of Pediatrics. 88:147-153 |
| بيانات النشر: | Springer Science and Business Media LLC, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | medicine.medical_specialty, India, Consanguinity, Gastroenterology, 03 medical and health sciences, Lipoprotein lipase deficiency, 0302 clinical medicine, Recurrent pancreatitis, 030225 pediatrics, Internal medicine, Humans, Medicine, Child, Retrospective Studies, Hypertriglyceridemia, Lipoprotein lipase, business.industry, Infant, Newborn, Chylothorax, Retrospective cohort study, medicine.disease, Lipoprotein Lipase, Lipemia retinalis, Pediatrics, Perinatology and Child Health, Pancreatitis, Hyperlipoproteinemia Type I, business, 030217 neurology & neurosurgery |
| الوصف: | 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. 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. 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. 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. |
| تدمد: | 0973-7693 0019-5456 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b1e3ef50247b5c3a57193b388c31b3aTest https://doi.org/10.1007/s12098-020-03305-zTest |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....0b1e3ef50247b5c3a57193b388c31b3a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 09737693 00195456 |
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