Successful Treatment of an Unusual Case of FPLD2: The Role of Roux-en-Y Gastric Bypass-Case Report and Literature Review

Overview

Journal J Gastrointest Surg

Specialty Gastroenterology

Date 2016 Oct 26

PMID 27778252

Citations 10

Authors

Sharon Grundfest-Broniatowski

Jingliang Yan

Matthew Kroh

Holly Kilim

Andrew Stephenson

Affiliations

Soon will be listed here.

Abstract

Familial partial lipodystrophy type 2 (FPLD2) is a rare disorder associated with LMNA gene mutations. It is usually marked by loss of subcutaneous fat on the limbs and trunk and severe insulin resistance. Scattered reports have indicated that Roux-en-Y bypass helps to control the diabetes mellitus in these patients. We present here a very unusual patient with FPLD2 who had life-threatening retroperitoneal and renal fat accumulation accompanied by bilateral renal cancers. Following cryotherapy of one renal cancer and a contralateral nephrectomy with debulking of the retroperitoneal fat, Roux-en-Y gastric bypass (RYGB) has successfully controlled the disease for 3 years. The clinical presentations and causes of FPLD are reviewed and the role of RYGB is discussed.

Citing Articles

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Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.

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References

Haque W, Vuitch F, Garg A . Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. Diabet Med. 2003; 19(12):1022-5. DOI: 10.1046/j.1464-5491.2002.00796.x. View

Ji H, Weatherall P, Adams-Huet B, Garg A . Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety. J Clin Endocrinol Metab. 2013; 98(8):E1410-3. PMC: 3733861. DOI: 10.1210/jc.2013-1297. View

Schauer P, Bhatt D, Kirwan J, Wolski K, Brethauer S, Navaneethan S . Bariatric surgery versus intensive medical therapy for diabetes--3-year outcomes. N Engl J Med. 2014; 370(21):2002-13. PMC: 5451259. DOI: 10.1056/NEJMoa1401329. View

Mory P, Crispim F, Freire M, Salles J, Valerio C, Godoy-Matos A . Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. Eur J Endocrinol. 2012; 167(3):423-31. DOI: 10.1530/EJE-12-0268. View

McGrath N, Krishna G . Gastric bypass for insulin resistance due to lipodystrophy. Obes Surg. 2006; 16(11):1542-4. DOI: 10.1381/096089206778869988. View

Caron M, Auclair M, Donadille B, Bereziat V, Guerci B, Laville M . Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence. Cell Death Differ. 2007; 14(10):1759-67. DOI: 10.1038/sj.cdd.4402197. View

Dunnigan M, Cochrane M, Kelly A, Scott J . Familial lipoatrophic diabetes with dominant transmission. A new syndrome. Q J Med. 1974; 43(169):33-48. View

Corcelles R, Daigle C, Schauer P . MANAGEMENT OF ENDOCRINE DISEASE: Metabolic effects of bariatric surgery. Eur J Endocrinol. 2015; 174(1):R19-28. DOI: 10.1530/EJE-15-0533. View

Utzschneider K, Trence D . Effectiveness of gastric bypass surgery in a patient with familial partial lipodystrophy. Diabetes Care. 2006; 29(6):1380-2. DOI: 10.2337/dc06-0130. View

10.

Araujo-Vilar D, Lattanzi G, Gonzalez-Mendez B, Costa-Freitas A, Prieto D, Columbaro M . Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. J Med Genet. 2008; 46(1):40-8. DOI: 10.1136/jmg.2008.059485. View

11.

Kobberling J, Willms B, KATTERMANN R, Creutzfeldt W . Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. Humangenetik. 1975; 29(2):111-20. DOI: 10.1007/BF00430347. View

12.

Farhan S, Robinson J, McIntyre A, Marrosu M, Ticca A, Loddo S . A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. Can J Cardiol. 2014; 30(12):1649-54. DOI: 10.1016/j.cjca.2014.09.007. View

13.

Guenantin A, Briand N, Bidault G, Afonso P, Bereziat V, Vatier C . Nuclear envelope-related lipodystrophies. Semin Cell Dev Biol. 2014; 29:148-57. DOI: 10.1016/j.semcdb.2013.12.015. View

14.

Simha V, Rao S, Garg A . Prolonged thiazolidinedione therapy does not reverse fat loss in patients with familial partial lipodystrophy, Dunnigan variety. Diabetes Obes Metab. 2008; 10(12):1275-6. DOI: 10.1111/j.1463-1326.2008.00978.x. View

15.

Garg A . Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011; 96(11):3313-25. PMC: 7673254. DOI: 10.1210/jc.2011-1159. View

16.

Ciudin A, Baena-Fustegueras J, Fort J, Encabo G, Mesa J, Lecube A . Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. Clin Endocrinol (Oxf). 2011; 75(3):403-4. DOI: 10.1111/j.1365-2265.2011.04057.x. View

17.

Simha V, Subramanyam L, Szczepaniak L, Quittner C, Adams-Huet B, Snell P . Comparison of efficacy and safety of leptin replacement therapy in moderately and severely hypoleptinemic patients with familial partial lipodystrophy of the Dunnigan variety. J Clin Endocrinol Metab. 2011; 97(3):785-92. PMC: 3319219. DOI: 10.1210/jc.2011-2229. View

18.

Camozzi D, Capanni C, Cenni V, Mattioli E, Columbaro M, Squarzoni S . Diverse lamin-dependent mechanisms interact to control chromatin dynamics. Focus on laminopathies. Nucleus. 2014; 5(5):427-40. PMC: 4164485. DOI: 10.4161/nucl.36289. View

19.

Kobberling J, Dunnigan M . Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. J Med Genet. 1986; 23(2):120-7. PMC: 1049565. DOI: 10.1136/jmg.23.2.120. View