Evidence map›Paper›PMID 35440056›Full record

GuidelineOrphanet journal of rare diseases2022

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 and 27 more

Open access · goldAbstract readPractice Guideline
PubMed Full text at PMC Publisher
In one paragraph

Guideline in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
2.3field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

16 citing papers in PubMed, 28 citations in OpenAlex.

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  8. Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

37 authors at 16 institutions in 1 country.

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), Paris, France.
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), Paris, France.ORCID 0000-0002-5507-4782
C VatierEndocrinology, 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), Paris, France.
S JanmaatEndocrinology, 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), Paris, France.
M AtlanSorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France.
C BadensDepartment of Genetics, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
P BaratPediatric Endocrinology Unit, Bordeaux University Hospitals, Bordeaux, France.
S BéliardNutrition Department, Assistance Publique-Hôpitaux de Marseille, La Conception Hospital, Marseille, France.
J BeltrandPaediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Necker Hospital, Paris University, Paris, France.
R Ben YaouAssistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Myology Institute, Sorbonne University, Paris, France.
E BismuthPaediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Paris University, Paris, France.
F BoccaraCardiology Department, Assistance Publique-Hôpitaux de Paris, St Antoine Hospital, Sorbonne University, Paris, France.
B CariouEndocrinology Department, Nantes University Hospitals, Guillaume et René Laennec Hospital, Nantes University, Nantes, France.
M ChaouatPlastic Surgery Department, Assistance Publique-Hôpitaux de Paris, St Louis Hospital, Paris University, Paris, France.
G CharriotFrench Lipodystrophy Association (AFLIP; Association Française des Lipodystrophies), Pierrevert, France.
S Christin-MaitreEndocrinology, 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), Paris, France.
M De KerdanetPaediatric Endocrinology Department, Rennes University Hospitals, South Hospital, Rennes, France.
B DelemerEndocrinology Department, Reims University Hospitals, Robert Debré Hospital, Reims, France.
E DisseEndocrinology Department, Lyon University Hospitals, South Lyon Civil Hospital, Lyon University, Pierre Benite, France.
N DuboisNutrition Department, Assistance Publique-Hôpitaux de Marseille, La Conception Hospital, Marseille, France.
B EymardAssistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Myology Institute, Sorbonne University, Paris, France.
B FèveEndocrinology, 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), Paris, France.
O LascolsSorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France.
P MathurinHepatology Department, Lille 2 University Hospitals, Lille University, Lille, France.
E NobécourtEndocrinology Department, La Reunion University Hospitals, Reunion South Hospital, St Pierre de la Reunion, France.
A Poujol-RobertHepatology Department, Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Sorbonne University, Paris, France.
G PrevostEndocrinology Department, Rouen University Hospitals, Bois-Guillaume Hospital, Rouen, France.
P RichardCardiogenetics and Myogenetics Department, Assistance Publique-Hôpitaux de Paris, Pitie Salpêtrière Hospital, Sorbonne University, Paris, France.
J SellamSorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France.
I TauveronEndocrinology Department, Clermont-Ferrand University Hospital, Clermont Auvergne University, Clermont-Ferrand, France.
D TrebozFrench Lipodystrophy Association (AFLIP; Association Française des Lipodystrophies), Pierrevert, France.
B VergèsEndocrinology-Diabetology Department, Dijon University Hospital, François Mitterand Hospital, Bourgogne University, Dijon, France.
V Vermot-DesrochesEndocrinology, 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), Paris, France.
K WahbiCardiology Department, Assistance Publique-Hôpitaux de Paris, Cochin Hospital, Paris University, Paris, France.
I JéruSorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France.
M C Vantyghem *Endocrinology Department, Lille 2 University Hospitals, Lille University, Lille, France.
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), Paris, France. corinne.vigouroux@aphp.fr.
Inserm · FRAssistance Publique – Hôpitaux de Paris · FRSorbonne Université · FRAssistance Publique Hôpitaux de Marseille · FRAssociation Francaise contre les Myopathies · FRUniversité de Lille · FRBordeaux Population Health · FRCentre Hospitalier Universitaire de La Réunion · FRCentre Hospitalier Universitaire de Reims · FRCentre Hospitalier Universitaire de Rennes · FRHôpital Cochin · FRHôpital Laennec · FRHospices Civils de Lyon · FRMaison des Sciences sociales et des Humanités de Dijon · FRUniversité Clermont Auvergne · FRUniversité de Rouen Normandie · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

HypertriglyceridemiaInsulin ResistanceLipodystrophyLipodystrophy, Familial PartialPancreatitisAcute DiseaseFemaleHumansDiagnosisDunnigan diseaseDunnigan syndromeInsulin-resistant diabetesManagementRecommendationType 2 familial partial lipodystrophy

Identifiers

PMID35440056
PMCPMC9019936
OpenAlexW4224277767

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Registered trials

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