Your browser doesn't support javascript.
loading
Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.
Besci, Ozge; Foss de Freitas, Maria Christina; Guidorizzi, Natália Rossin; Guler, Merve Celik; Gilio, Donatella; Maung, Jessica N; Schill, Rebecca L; Hoose, Keegan S; Obua, Bonje N; Gomes, Anabela D; Yildirim Simsir, Ilgin; Demir, Korcan; Akinci, Baris; MacDougald, Ormond A; Oral, Elif A.
Afiliación
  • Besci O; Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, MI 48109, USA.
  • Foss de Freitas MC; Division of Pediatric Endocrinology, Dokuz Eylul University, Izmir 35340, Turkey.
  • Guidorizzi NR; Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, MI 48109, USA.
  • Guler MC; Division of Internal Medicine, University of São Paulo, Ribeirão Preto, São Paulo 05508, Brazil.
  • Gilio D; Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, MI 48109, USA.
  • Maung JN; Division of Internal Medicine, Dokuz Eylul University, Izmir 35340, Turkey.
  • Schill RL; Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, MI 48109, USA.
  • Hoose KS; Department of Clinical and Translational Sciences, University of Pisa, Pisa 56126, Italy.
  • Obua BN; Department of Molecular & Integrative Physiology, University of Michigan, Ann Arbor, MI 48105, USA.
  • Gomes AD; Department of Molecular & Integrative Physiology, University of Michigan, Ann Arbor, MI 48105, USA.
  • Yildirim Simsir I; Department of Molecular & Integrative Physiology, University of Michigan, Ann Arbor, MI 48105, USA.
  • Demir K; Department of Molecular & Integrative Physiology, University of Michigan, Ann Arbor, MI 48105, USA.
  • Akinci B; Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, MI 48109, USA.
  • MacDougald OA; Division of Endocrinology and Metabolism, Department of Internal Medicine, Ege University, Izmir 35100, Turkey.
  • Oral EA; Division of Pediatric Endocrinology, Dokuz Eylul University, Izmir 35340, Turkey.
J Clin Endocrinol Metab ; 109(3): e1204-e1224, 2024 Feb 20.
Article en En | MEDLINE | ID: mdl-37843397
CONTEXT: Lipodystrophy syndromes are a heterogeneous group of rare genetic or acquired disorders characterized by generalized or partial loss of adipose tissue. LMNA-related lipodystrophy syndromes are classified based on the severity and distribution of adipose tissue loss. OBJECTIVE: We aimed to annotate all clinical and metabolic features of patients with lipodystrophy syndromes carrying pathogenic LMNA variants and assess potential genotype-phenotype relationships. METHODS: We retrospectively reviewed and analyzed all our cases (n = 115) and all published cases (n = 379) curated from 94 studies in the literature. RESULTS: The study included 494 patients. The most common variants in our study, R482Q and R482W, were associated with similar metabolic characteristics and complications though those with the R482W variant were younger (aged 33 [24] years vs 44 [25] years; P < .001), had an earlier diabetes diagnosis (aged 27 [18] vs 40 [17] years; P < .001) and had lower body mass index levels (24 [5] vs 25 [4]; P = .037). Dyslipidemia was the earliest biochemical evidence described in 83% of all patients at a median age of 26 (10) years, while diabetes was reported in 61% of cases. Among 39 patients with an episode of acute pancreatitis, the median age at acute pancreatitis diagnosis was 20 (17) years. Patients who were reported to have diabetes had 3.2 times, while those with hypertriglyceridemia had 12.0 times, the odds of having pancreatitis compared to those who did not. CONCLUSION: This study reports the largest number of patients with LMNA-related lipodystrophy syndromes to date. Our report helps to quantify the prevalence of the known and rare complications associated with different phenotypes and serves as a comprehensive catalog of all known cases.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pancreatitis / Diabetes Mellitus / Lipodistrofia Tipo de estudio: Systematic_reviews Límite: Adult / Humans Idioma: En Revista: J Clin Endocrinol Metab Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pancreatitis / Diabetes Mellitus / Lipodistrofia Tipo de estudio: Systematic_reviews Límite: Adult / Humans Idioma: En Revista: J Clin Endocrinol Metab Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos