Orphanet Journal of Rare Diseases (Apr 2022)
Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)
- 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
Affiliations
- H. Mosbah
- Endocrinology, Diabetology and Reproductive Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS)
- B. Donadille
- Endocrinology, Diabetology and Reproductive Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS)
- C. Vatier
- Endocrinology, Diabetology and Reproductive Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS)
- S. Janmaat
- Endocrinology, Diabetology and Reproductive Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS)
- M. Atlan
- Sorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition
- C. Badens
- Department of Genetics, Assistance Publique-Hôpitaux de Marseille
- P. Barat
- Pediatric Endocrinology Unit, Bordeaux University Hospitals
- S. Béliard
- Nutrition Department, Assistance Publique-Hôpitaux de Marseille, La Conception Hospital
- J. Beltrand
- Paediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Necker Hospital, Paris University
- R. Ben Yaou
- Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Myology Institute, Sorbonne University
- E. Bismuth
- Paediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Paris University
- F. Boccara
- Cardiology Department, Assistance Publique-Hôpitaux de Paris, St Antoine Hospital, Sorbonne University
- B. Cariou
- Endocrinology Department, Nantes University Hospitals, Guillaume et René Laennec Hospital, Nantes University
- M. Chaouat
- Plastic Surgery Department, Assistance Publique-Hôpitaux de Paris, St Louis Hospital, Paris University
- G. Charriot
- French Lipodystrophy Association (AFLIP; Association Française des Lipodystrophies)
- S. Christin-Maitre
- Endocrinology, Diabetology and Reproductive Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS)
- M. De Kerdanet
- Paediatric Endocrinology Department, Rennes University Hospitals, South Hospital
- B. Delemer
- Endocrinology Department, Reims University Hospitals, Robert Debré Hospital
- E. Disse
- Endocrinology Department, Lyon University Hospitals, South Lyon Civil Hospital, Lyon University
- N. Dubois
- Nutrition Department, Assistance Publique-Hôpitaux de Marseille, La Conception Hospital
- B. Eymard
- Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Myology Institute, Sorbonne University
- B. Fève
- Endocrinology, Diabetology and Reproductive Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS)
- O. Lascols
- Sorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition
- P. Mathurin
- Hepatology Department, Lille 2 University Hospitals, Lille University
- E. Nobécourt
- Endocrinology Department, La Reunion University Hospitals, Reunion South Hospital
- A. Poujol-Robert
- Hepatology Department, Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Sorbonne University
- G. Prevost
- Endocrinology Department, Rouen University Hospitals, Bois-Guillaume Hospital
- P. Richard
- Cardiogenetics and Myogenetics Department, Assistance Publique-Hôpitaux de Paris, Pitie Salpêtrière Hospital, Sorbonne University
- J. Sellam
- Sorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition
- I. Tauveron
- Endocrinology Department, Clermont-Ferrand University Hospital, Clermont Auvergne University
- D. Treboz
- French Lipodystrophy Association (AFLIP; Association Française des Lipodystrophies)
- B. Vergès
- Endocrinology-Diabetology Department, Dijon University Hospital, François Mitterand Hospital, Bourgogne University
- V. Vermot-Desroches
- Endocrinology, Diabetology and Reproductive Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS)
- K. Wahbi
- Cardiology Department, Assistance Publique-Hôpitaux de Paris, Cochin Hospital, Paris University
- I. Jéru
- Sorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition
- M. C. Vantyghem
- Endocrinology Department, Lille 2 University Hospitals, Lille University
- C. Vigouroux
- Endocrinology, Diabetology and Reproductive Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS)
- DOI
- https://doi.org/10.1186/s13023-022-02308-7
- Journal volume & issue
-
Vol. 17,
no. S1
pp. 1 – 23
Abstract
Abstract 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.
Keywords
- Type 2 familial partial lipodystrophy
- Dunnigan syndrome
- Dunnigan disease
- Insulin-resistant diabetes
- Diagnosis
- Recommendation
