Metabolic and other morbid complications in congenital generalized lipodystrophy type 4

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dc.authoridKamrath, Clemens/0000-0002-8241-4105
dc.authoridProdam, Flavia/0000-0001-9660-5335
dc.authoridBeghini, Marianna/0000-0001-6161-4004
dc.contributor.authorAkinci, Gulcin
dc.contributor.authorAlyaarubi, Saif
dc.contributor.authorPatni, Nivedita
dc.contributor.authorAlhashmi, Nadia
dc.contributor.authorAl-Shidhani, Azza
dc.contributor.authorProdam, Flavia
dc.contributor.authorGagne, Nancy
dc.date.accessioned2024-08-31T07:47:35Z
dc.date.available2024-08-31T07:47:35Z
dc.date.issued2024
dc.departmentEge Üniversitesien_US
dc.description.abstractMorbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44). Myopathy with elevated serum creatine kinase levels (346-3325 IU/L) affected all of them (38/38). 39% had scoliosis (10/26) and 57% had atlantoaxial instability (8/14). Cardiac arrhythmias were detected in 57% (20/35) and 46% had ventricular tachycardia (16/35). Congenital pyloric stenosis was diagnosed in 39% (18/46), 9 had esophageal dysmotility and 19 had intestinal dysmotility. Four patients suffered from intestinal perforations. Seven patients died at mean age of 17 years (range: 2 months to 39 years). The cause of death in four patients was cardiac arrhythmia and sudden death, while others died of prematurity, gastrointestinal perforation, and infected foot ulcers leading to sepsis. Our study highlights high prevalence of myopathy, metabolic abnormalities, cardiac, and gastrointestinal problems in patients with CGL4. CGL4 patients are at high risk of early death mainly caused by cardiac arrhythmias.en_US
dc.description.sponsorshipNational Institutes of Healthen_US
dc.description.sponsorshipThe authors express their gratitude to Gonca Topuz, Suleyman C. Adiyaman, Canan Altay, Irina Ulyanova, Liubov Bolotskaya, Anica Bulic, Dominic Ng, Nilay Gunes, Tahir Atik, Samim Ozen, and Huseyin Onay for their valuable contributions to the clinical care of the patients.en_US
dc.identifier.doi10.1002/ajmg.a.63533
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.issue6en_US
dc.identifier.pmid38234231en_US
dc.identifier.scopus2-s2.0-85182455734en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.63533
dc.identifier.urihttps://hdl.handle.net/11454/104479
dc.identifier.volume194en_US
dc.identifier.wosWOS:001157110600001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofAmerican Journal of Medical Genetics Part Aen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240831_Uen_US
dc.subjectCavin1en_US
dc.subjectCongenital Generalized Lipodystrophyen_US
dc.subjectGastrointestinal Diseaseen_US
dc.subjectMetabolic Abnormalitiesen_US
dc.subjectMyopathyen_US
dc.subjectVentricular Tachycardiaen_US
dc.titleMetabolic and other morbid complications in congenital generalized lipodystrophy type 4en_US
dc.typeArticleen_US

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