Evidence map›Paper›PMID 38678257›Full record

ArticleOrphanet journal of rare diseases2024

Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center.

Bruno Donadille, Sonja Janmaat, Héléna Mosbah, Inès Belalem, Sophie Lamothe, Mariana Nedelcu, Anne-Sophie Jannot, Sophie Christin-Maitre, Bruno Fève, Camille Vatier and 1 more

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Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.4field-weighted citation impact, top 20% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
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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

11 authors at 3 institutions in 1 country.

Bruno DonadilleSaint-Antoine Hospital, Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), 184 rue du Faubourg Saint-Antoine, 75012, Paris, France. bruno.donadille@aphp.fr.ORCID 0000-0002-5507-4782
Sonja JanmaatSaint-Antoine Hospital, Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), 184 rue du Faubourg Saint-Antoine, 75012, Paris, France.
Héléna MosbahSaint-Antoine Hospital, Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), 184 rue du Faubourg Saint-Antoine, 75012, Paris, France.
Inès BelalemSaint-Antoine Hospital, Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), 184 rue du Faubourg Saint-Antoine, 75012, Paris, France.
Sophie LamotheSaint-Antoine Hospital, Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), 184 rue du Faubourg Saint-Antoine, 75012, Paris, France.
Mariana NedelcuSaint-Antoine Hospital, Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), 184 rue du Faubourg Saint-Antoine, 75012, Paris, France.
Anne-Sophie JannotBanque Nationale de Données Maladies Rares, DSN-I&D, APHP, Paris, France.
Sophie Christin-MaitreSaint-Antoine Hospital, Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), 184 rue du Faubourg Saint-Antoine, 75012, Paris, France.
Bruno FèveSaint-Antoine Hospital, Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), 184 rue du Faubourg Saint-Antoine, 75012, Paris, France.
Camille VatierSaint-Antoine Hospital, Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), 184 rue du Faubourg Saint-Antoine, 75012, Paris, France.
Corinne VigourouxSaint-Antoine Hospital, Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), 184 rue du Faubourg Saint-Antoine, 75012, Paris, France. corinne.vigouroux@aphp.fr.
Inserm · FRSorbonne Université · FRAssistance Publique – Hôpitaux de Paris · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications.

objectiveWe aimed to evaluate the patients' age at referral to our dedicated national reference center in France and their elapsed time from first symptoms to diagnosis and access to specialized care. PATIENTS AND

methodsWe analyzed data from patients with rare lipodystrophy and insulin-resistance syndromes referred to the coordinating PRISIS reference center (Adult Endocrine Department, Saint-Antoine Hospital, AP-HP, Paris), prospectively recorded between 2018 and 2023 in the French National Rare Disease Database (BNDMR, Banque Nationale de Données Maladies Rares).

resultsA cohort of 292 patients was analyzed, including 208 women, with the following diagnosis: Familial Partial LipoDystrophy (FPLD, n = 124, including n = 67 FPLD2/Dunnigan Syndrome); Acquired lipodystrophy syndromes (n = 98, with n = 13 Acquired Generalized Lipodystrophy, AGL); Symmetric cervical adenolipomatosis (n = 27, Launois-Bensaude syndrome, LB), Congenital generalized lipodystrophy (n = 18, CGL) and other rare severe insulin-resistance syndromes (n = 25). The median age at referral was 47.6 years [IQR: 31-60], ranging from 25.2 (CGL) to 62.2 years old (LB). The median age at first symptoms of 27.6 years old [IQR: 16.8-42.0]) and the median diagnostic delay of 6.4 years [IQR: 1.3-19.5] varied among diagnostic groups. The gender-specific expression of lipodystrophy is well-illustrated in the FPLD2 group (91% of women), presenting with first signs at 19.3 years [IQR: 14.4-27.8] with a diagnostic delay of 10.5 years [IQR: 1.8-27.0].

conclusionThe national rare disease database provides an important tool for assessment of care pathways in patients with lipodystrophy and rare insulin-resistance syndromes in France. Improving knowledge to reduce diagnostic delay is an important objective of the PRISIS reference center.

Indexed as

Insulin ResistanceLipodystrophyAdolescentAdultFemaleFranceHumansMaleMiddle AgedReferral and ConsultationYoung AdultAgeDiagnosisDiagnostic delayInsulin-resistanceLipodystrophyNational health databaseRare diseasesReference centerReferral

Identifiers

PMID38678257
PMCPMC11056061
OpenAlexW4395702295

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.