Familial Lipoprotein Lipase Deficiency

Desnick, Robert J.; Guntinas‐Lichius, Orlando; Padberg, George W.; Schonfeld, Gustav; Lin, Xiaobo; Averna, Maurizio; Yue, Pin; Schnog, John-John B.; Gerdes, Victor E. A.; Cutillas, Pedro R.; Unwin, Robert J.; Schulze, Heike; Sandhoff, Konrad; Pellissier, Jean‐François; Serratrice, G; Figarella‐Branger, Dominique; Binker, Marcelo Gustavo; Cosen-Binker, Laura Iris; Wettstein, Matthias; Driesch, Peter Von Den; Nabbout, Rima; Mantegazza, Massimo; Dulac, Olivier; Kang, Ho Sung; Schröder, Johann Michael; Cate, Marina Marchetti Hugo Ten; Marchetti, Marina; Cate, Hugo Ten; Patrushev, Lev I.; Weinstein, Lee S.; Isa, Adiba; Azpiroz, Fernando; Li, Guang-Sheng; Jing, Ling; Xu, Hui; Molloy, Anne M.; Scott, John M.; Sunderkötter, Cord; Lorentz, Axel; Bischoff, Stephan C.; Tamanini, Filippo; Klockgether, Thomas; Wong, Derek A.; Kopitz, Jürgen; Reitzenstein, Carolina; Cantz, Michael

doi:10.1007/978-3-540-29676-8_9175

Cited by 2 publications

(1 citation statement)

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“…Среди зарубежных алгоритмов дифференциальной диагностики, которые могут быть адаптированы в детских липидных центрах РФ, эксперты отмечают таблицы по дифференциальной диагностике с болезнью Ниманна -Пика (типы A, В и С) и болезнью Гоше [21], а также с различными формами наследственных дислипидемий, дефектами в генах APOC2, GPIHBP1, APOA5, LMF1 [22]. Целесообразно дополнить алгоритмы диагностики СГХС более редкими формами дислипидемий, например ДЛКЛ, и представить четкие алгоритмы для диагностики вторичных форм дислипидемий, а также детализировать известный алгоритм по диагностике болезни лизосомного накопления липидов применительно к детскому возрасту [22][23][24][25][26][27][28].…”

Section: возможности улучшения подходов к дифференциальной диагностике определение заболеваний между которыми должна проводиться дифференunclassified

Timely diagnosis of lysosomal acid lipase deficiency in children and young adults with lipid profile abnormalities. Expert opinion

Ezhov¹,

Zakharova²,

Avramenko³

et al. 2021

Russian Journal of Woman and Child Health

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Lysosomal acid lipase deficiency (LAL-D) is a monogenic progressive life-threatening condition characterized by abnormal lipid profiles in most patients of all ages. Timely diagnosis and early pathogenetically-oriented treatment (available in Russia) are crucial for children and young adults since abnormal serum levels of lipids are associated with the onset and severity of atherosclerosis in adolescence, young and middle age. The prognosis of LAL-D without pathogenetically oriented treatment is poor. Data on cholesteryl ester storage disease (a variant of LAL-D in children and adults), early atherosclerosis, coronary heart disease, aortic calcification, etc., are available. However, early diagnosis of LAL-D is difficult due to long-term latent course and nonspecific clinical signs. In December 2020, a panel of leading Russian experts in the diagnosis and treatment of orphan diseases and lipidologists was held in Moscow. This panel developed an algorithm to optimize the early diagnosis of dyslipidemias in children and young adults and identify patients with LAL-D in a total population of patients with lipid profile abnormalities. KEYWORDS: lysosomal acid lipase deficiency, lipid profile, atherosclerosis, lipid center. FOR CITATION: Ezhov M.V., Zakharova E.Yu., Avramenko A.A. et al. Timely diagnosis of lysosomal acid lipase deficiency in children and young adults with lipid profile abnormalities. Expert opinion. Russian Journal of Woman and Child Health. 2021;4(3):268–276 (in Russ.). DOI: 10.32364/2618-8430-2021-4-3-268-276.

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Timely diagnosis of lysosomal acid lipase deficiency in children and young adults with lipid profile abnormalities. Expert opinion

Ezhov¹,

Zakharova²,

Avramenko³

et al. 2021

Russian Journal of Woman and Child Health

View full text Add to dashboard Cite

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Lipophagy and Lipolysis Status in Lipid Storage and Lipid Metabolism Diseases

Kłoska

Węsierska

Malinowska

et al. 2020

IJMS

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This review discusses how lipophagy and cytosolic lipolysis degrade cellular lipids, as well as how these pathway ys communicate, how they affect lipid metabolism and energy homeostasis in cells and how their dysfunction affects the pathogenesis of lipid storage and lipid metabolism diseases. Answers to these questions will likely uncover novel strategies for the treatment of aforementioned human diseases, but, above all, will avoid destructive effects of high concentrations of lipids—referred to as lipotoxicity—resulting in cellular dysfunction and cell death.

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Familial Lipoprotein Lipase Deficiency

Cited by 2 publications

References 0 publications

Timely diagnosis of lysosomal acid lipase deficiency in children and young adults with lipid profile abnormalities. Expert opinion

Timely diagnosis of lysosomal acid lipase deficiency in children and young adults with lipid profile abnormalities. Expert opinion

Lipophagy and Lipolysis Status in Lipid Storage and Lipid Metabolism Diseases

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