Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy

Berardinelli-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. We analyzed death c...

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Bibliographic Details
Published in:	PloS one Vol. 13; no. 6; p. e0199052
Main Authors:	Lima, Josivan Gomes, Nobrega, Lucia Helena C, Lima, Natalia Nobrega, Dos Santos, Marcel Catão Ferreira, Silva, Pedro Henrique Dantas, Baracho, Maria de Fatima P, Lima, Debora Nobrega, de Melo Campos, Julliane Tamara Araújo, Ferreira, Leonardo Capistrano, Freire Neto, Francisco Paulo, Mendes-Aguiar, Carolina de O, Jeronimo, Selma Maria B
Format:	Journal Article
Language:	English
Published:	United States Public Library of Science 08-06-2018 Public Library of Science (PLoS)
Subjects:	Adipocytes Adolescent Adult Biology and Life Sciences Care and treatment Cause of Death Cell death Congenital diseases Death Diabetes Fatalities Female Fibrosis Genetic aspects Hospitals Humans Infection - mortality Infections Laboratories Leishmania donovani Life Expectancy Life span Lipodystrophy Lipodystrophy, Congenital Generalized - complications Lipodystrophy, Congenital Generalized - genetics Lipodystrophy, Congenital Generalized - mortality Liver Liver cirrhosis Liver diseases Liver Diseases - etiology Liver Diseases - mortality Lung diseases Male Medical records Medicine and Health Sciences Metabolic syndrome Mortality Mutation Myocardial infarction Myocardial Infarction - etiology Myocardial Infarction - mortality Pancreatitis Pancreatitis - mortality Patients Population studies Prognosis Pulmonary Fibrosis - etiology Pulmonary Fibrosis - mortality Rare Diseases - complications Rare Diseases - genetics Rare Diseases - mortality Renal failure Renal Insufficiency - etiology Renal Insufficiency - mortality Young Adult Brazil Rio Grande do Norte Brazil
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Summary:	Berardinelli-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. We 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. Twenty 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. BSCL 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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Competing Interests: The authors have declared that no competing interests exist.
ISSN:	1932-6203 1932-6203
DOI:	10.1371/journal.pone.0199052