Coincidence of Autoimmune Diabetes Mellitus and Familial Partial Lipodystrophy.

Michelle Krienke, Hartmut H J Schmidt, Janine Buettner, Susanne Tan, Isabell Schumann, Konstanze Miehle

Abstract readCase Reports

In one paragraph

Article in JCEM case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Michelle KrienkeMedical Department III- Endocrinology, Nephrology, Rheumatology, University of Leipzig, Medical Center, Leipzig 04103, Germany.

Hartmut H J SchmidtDepartment of Gastroenterology, Hepatology and Transplant Medicine, University Hospital Essen, University of Duisburg-Essen, Essen 45147, Germany.

Janine BuettnerDepartment of Hepatology and Gastroenterology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin 10117, Germany.

Susanne TanDepartment of Diabetes and Endocrinology, Heart and Diabetes Center NRW, University Hospital, Ruhr University Bochum, Bochum 44801, Germany.

Isabell SchumannDepartment of Medical Genetics, Centre of Medical Genetics, University and University Hospital Münster, Münster 48149, Germany.

Konstanze MiehleMedical Department III- Endocrinology, Nephrology, Rheumatology, University of Leipzig, Medical Center, Leipzig 04103, Germany.ORCID https://orcid.org/0000-0002-2311-556X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial partial lipodystrophy (FPLD) is a rare genetic disorder leading to adipose tissue deficiency/redistribution and metabolic dysregulation with insulin resistance, diabetes mellitus, and dyslipidemia. Coincidence of FPLD and autoantibody-positive type 1 diabetes has not been published yet. We identified a female patient with the initial diagnosis of autoantibody-positive type 1 diabetes who developed severe insulin resistance with daily insulin doses up to 300 IU/d, acanthosis nigricans, polycystic ovary syndrome, hyperphagia, myalgia, and dyslipidemia. Since her phenotype was suspicious for FPLD, genetic testing was initiated. It revealed a heterozygous missense variant at hot spot codon c.1444 within

Indexed as

autoimmune diabetes mellitusfamilial partial lipodystrophyglucagon-like peptide 1-receptor agonistinsulin resistanceLamin A/C

Identifiers

PMID41221014

DOI10.1210/jcemcr/luaf265

PMCPMC12598280

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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.