Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

被引：0

作者：

H. Mosbah

B. Donadille

C. Vatier

S. Janmaat

M. Atlan

C. Badens

P. Barat

S. Béliard

J. Beltrand

R. Ben Yaou

E. Bismuth

F. Boccara

B. Cariou

M. Chaouat

G. Charriot

S. Christin-Maitre

M. De Kerdanet

B. Delemer

E. Disse

N. Dubois

B. Eymard

B. Fève

O. Lascols

P. Mathurin

E. Nobécourt

A. Poujol-Robert

G. Prevost

P. Richard

J. Sellam

I. Tauveron

D. Treboz

B. Vergès

V. Vermot-Desroches

K. Wahbi

I. Jéru

M. C. Vantyghem

C. Vigouroux

机构：

[1] Assistance Publique-Hôpitaux de Paris,Endocrinology, Diabetology and Reproductive Endocrinology Department

[2] Saint-Antoine University Hospital,Plastic Surgery Department

[3] National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS),Department of Genetics

[4] Sorbonne University,Pediatric Endocrinology Unit

[5] Inserm UMR_S938,Nutrition Department

[6] Saint-Antoine Research Centre,Paediatric Endocrinology Department

[7] Institute of Cardiometabolism and Nutrition,Paediatric Endocrinology Department

[8] Assistance Publique-Hôpitaux de Paris,Cardiology Department

[9] Tenon Hospital,Endocrinology Department

[10] Assistance Publique-Hôpitaux de Marseille,Plastic Surgery Department

[11] Bordeaux University Hospitals,Paediatric Endocrinology Department

[12] Assistance Publique-Hôpitaux de Marseille,Endocrinology Department

[13] La Conception Hospital,Endocrinology Department

[14] Assistance Publique-Hôpitaux de Paris,Molecular Biology and Genetics Department

[15] Necker Hospital,Hepatology Department

[16] Paris University,Endocrinology Department

[17] Assistance Publique-Hôpitaux de Paris,Hepatology Department

[18] Pitié-Salpêtrière Hospital,Endocrinology Department

[19] Myology Institute,Cardiogenetics and Myogenetics Department

[20] Sorbonne University,Rhumatology Department

[21] Assistance Publique-Hôpitaux de Paris,Endocrinology Department

[22] Robert Debré Hospital,Endocrinology

[23] Paris University,Diabetology Department

[24] Assistance Publique-Hôpitaux de Paris,Cardiology Department

[25] St Antoine Hospital,Endocrinology Department

[26] Sorbonne University,undefined

[27] Nantes University Hospitals,undefined

[28] Guillaume et René Laennec Hospital,undefined

[29] Nantes University,undefined

[30] Assistance Publique-Hôpitaux de Paris,undefined

[31] St Louis Hospital,undefined

[32] Paris University,undefined

[33] French Lipodystrophy Association (AFLIP; Association Française des Lipodystrophies),undefined

[34] Sorbonne University,undefined

[35] Inserm UMR_S933,undefined

[36] Rennes University Hospitals,undefined

[37] South Hospital,undefined

[38] Reims University Hospitals,undefined

[39] Robert Debré Hospital,undefined

[40] Lyon University Hospitals,undefined

[41] South Lyon Civil Hospital,undefined

[42] Lyon University,undefined

[43] Assistance Publique-Hôpitaux de Paris,undefined

[44] Saint-Antoine University Hospital,undefined

[45] Lille 2 University Hospitals,undefined

[46] Lille University,undefined

[47] La Reunion University Hospitals,undefined

[48] Reunion South Hospital,undefined

[49] Assistance Publique-Hôpitaux de Paris,undefined

[50] Saint-Antoine Hospital,undefined

来源：

Orphanet Journal of Rare Diseases | / 17卷

关键词：

Type 2 familial partial lipodystrophy; Dunnigan syndrome; Dunnigan disease; Insulin-resistant diabetes; Diagnosis; Recommendation; Management;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Dunnigan syndrome, or Familial Partial Lipodystrophy type 2 (FPLD2; ORPHA 2348), is a rare autosomal dominant disorder due to pathogenic variants of the LMNA gene. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins), is to provide health professionals with a guide to optimal management and care of patients with FPLD2, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), is available on the French Health Authority website (in French). Dunnigan syndrome is characterized by a partial atrophy of the subcutaneous adipose tissue and by an insulin resistance syndrome, associated with a risk of metabolic, cardiovascular and muscular complications. Its prevalence, assessed at 1/100.000 in Europe, is probably considerably underestimated. Thorough clinical examination is key to diagnosis. Biochemical testing frequently shows hyperinsulinemia, abnormal glucose tolerance and hypertriglyceridemia. Elevated hepatic transaminases (hepatic steatosis) and creatine phosphokinase, and hyperandrogenism in women, are common. Molecular analysis of the LMNA gene confirms diagnosis and allows for family investigations. Regular screening and multidisciplinary monitoring of the associated complications are necessary. Diabetes frequently develops from puberty onwards. Hypertriglyceridemia may lead to acute pancreatitis. Early atherosclerosis and cardiomyopathy should be monitored. In women, polycystic ovary syndrome is common. Overall, the management of patients with Dunnigan syndrome requires the collaboration of several health care providers. The attending physician, in conjunction with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are described to provide such a support.

引用

共 222 条

[1] Chiquette E(2017)Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges Diabet Metab Syndr Obes Targets Ther 10 375-383
[2] Oral EA(2020)Clinical and molecular prevalence of lipodystrophy in an unascertained large clinical care cohort Diabetes 69 249-258
[3] Garg A(2019)Regional body fat changes and metabolic complications in children with dunnigan lipodystrophy-causing LMNA variants J Clin Endocrinol Metab 104 1099-1108
[4] Araújo-Vilar D(2016)The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline J Clin Endocrinol Metab 101 4500-4511
[5] Gonzaga-Jauregui C(2017)Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort Clin Endocrinol 86 698-707
[6] Ge W(2020)Lipodystrophic syndromes: from diagnosis to treatment Ann Endocrinol 81 51-60
[7] Staples J(2016)Lipodystrophy syndromes Endocrinol Metab Clin N Am 45 783-797
[8] Van Hout C(2020)LipoDDx: A mobile application for identification of rare lipodystrophy syndromes Orphanet J Rare Dis 15 81-189
[9] Yadav A(2012)How to diagnose a lipodystrophy syndrome Ann Endocrinol 73 170-E1413
[10] Patni N(2013)Increased skeletal muscle volume in women with familial partial lipodystrophy, dunnigan variety J Clin Endocrinol Metab 98 E1410-389

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