ArticlePloS one2018
Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 80 citations in OpenAlex.
- AAV-mediated delivery of leptin but not adiponectin improves metabolic health in a pre-clinical mouse model of congenital generalised lipodystrophy.Gene therapy · 2026Article
- Unraveling the natural history of lipodystrophy syndromes: insights from the prospective LD-Lync study.Journal of the Endocrine Society · 2026Article
- Liraglutide use in congenital generalized lipodystrophy: glycemic and metabolic outcomes.Frontiers in endocrinology · 2026Article
- Pathways to improving the awareness, diagnosis and management of lipodystrophy in Brazil: an expert panel discussion.Diabetology & metabolic syndrome · 2025Review
- Adaptive Responses in Severe Acute Malnutrition: Endocrinology, Metabolomics, Mortality, and Growth.Nutrients · 2025Review
- Clinical Guidance for Lipodystrophy Syndromes: From Diagnosis and Work-Up to Treatment.Current diabetes reports · 2025Review
- Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism.Current diabetes reports · 2025Review
- Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.International journal of molecular sciences · 2025Review
- The Role of theInternational journal of molecular sciences · 2025Review
- A Rare Cause of Acute Pancreatitis: Two Siblings With Werner Syndrome.JCEM case reports · 2025Article
- A real-world pharmacovigilance assessment and literature review of lymphoma development in lipodystrophy.Frontiers in endocrinology · 2025Review
- Preclinical evaluation of tissue-selective gene therapies for congenital generalised lipodystrophy.Gene therapy · 2024Article
- Obesity and 1-year all-cause survival of adult intensive care patients with heart failure: data from the MIMIC-IV.Diabetology & metabolic syndrome · 2024Article
- Impaired signaling pathways on Berardinelli-Seip congenital lipodystrophy macrophages during Leishmania infantum infection.Scientific reports · 2024Article
- Adipose tissue as a linchpin of organismal ageing.Nature metabolism · 2024Review
- Impact of lipodystrophy on health-related quality of life: the QuaLip study.Orphanet journal of rare diseases · 2024Observational
- Echocardiographic Alterations of Cardiac Geometry and Function in Patients with Familial Partial Lipodystrophy.Arquivos brasileiros de cardiologia · 2024Article
- Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2.Frontiers in endocrinology · 2024Article
- Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.Frontiers in endocrinology · 2024Review
- Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy.Human molecular genetics · 2023Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionBerardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease that affects the development of adipocytes and leads to an inability to store fat in adipocytes. This study aimed to evaluate the life expectancy and the causes of death of patients with BSCL.
methodWe analyzed death certificates, and medical records of BSCL patients who died between 1997 and 2017. If the death certificate was incomplete or unavailable, we reviewed the medical records, and if they were not available too, we collected information from the patient's relatives to understand how the death happened. We calculated the potential years of life lost as a result of premature death.
resultsTwenty patients (12 female and 8 male) died between 1997 and 2017. The mean age at the time of death was 27.1±12.4 years (women 25.2±12.5 vs. men 29.9±12.6 years, p = 0.41). Life expectancy for the study population was 62.9±4.8 years. The potential number of years of life lost was 35.6±16.6 years. The causes of deaths were divided into three major groups: infections (7 patients, 35%), liver disease (7 patients, 35%), and other causes (acute pancreatitis, one patient; renal failure, three patients; sudden death/myocardial infarction, two patients). Three patients had pulmonary fibrosis.
conclusionBSCL led to premature death, cutting the patients' lifespan by 30 or more years. The majority of these young patients died of liver disease or infection. Other studies are needed to understand better the mechanisms that predispose to infections, as well as to assess whether new therapies can alter the natural history of this disease.
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