초록
<P><B>Abstract</B><P>Background<P>Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications.</P></P><P>Objective<P>We 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.</P></P><P>Patients and methods<P>We 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, <I>Banque Nationale de Données Maladies Rares</I>).</P></P><P>Results<P>A cohort of 292 patients was analyzed, including 208 women, with the following diagnosis: Familial Partial LipoDystrophy (FPLD, <I>n</I> = 124, including <I>n</I> = 67 FPLD2/Dunnigan Syndrome); Acquired lipodystrophy syndromes (<I>n</I> = 98, with <I>n</I> = 13 Acquired Generalized Lipodystrophy, AGL); Symmetric cervical adenolipomatosis (<I>n</I> = 27, Launois-Bensaude syndrome, LB), Congenital generalized lipodystrophy (<I>n</I> = 18, CGL) and other rare severe insulin-resistance syndromes (<I>n</I> = 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].</P></P><P>Conclusion<P>The 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.</P></P></P>