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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Exercise-induced rhabdomyolysis refers to the breakdown of striated muscle, which releases intracellular elements into the bloodstream due to heavy physical activity. In rare instances, this condition may be the first clinical manifestation of sickle cell trait (SCT). We report on a 31-year-old woman with post-infectious fatigue who, after suffering mild COVID-19 symptoms 3 weeks prior, presented with intense muscle pain in the ankles, dyspnea, and choluria hours after strenuous physical exercise during a practical test. She sought emergent care the next day, where serum creatinine was measured at 2.4 mg/dL (baseline 1.0 mg/dL) and creatine phosphokinase at 118,000 U/L. She was previously healthy, without regular use of any medication, and habitually sedentary except in training, with no personal or family history of blood or muscle diseases. She was admitted without hemodialysis and discharged after 2 weeks. At 3 months, she had normalization of creatine phosphokinase and creatinine. As an outpatient, other tests were requested. Hemoglobin (Hb) electrophoresis revealed HbA1 of 57.8%, HbA2 of 3.1%, HbF of 0.3%, and HbS of 38.8%, which were compatible with SCT. Evaluation for SCT should be considered in cases of exercise-induced rhabdomyolysis, especially in young, healthy patients.

Congenital generalised lipodystrophy (CGL), or Berardinelli-Seip syndrome, is an autosomal recessive disorder first identified in Brazil in 1954. 1 It is characterised by a loss of subcutaneous adipose tissue and marked insulin resistance, with consequences including diabetes, hypertriglyceridemia, hepatic steatosis, polycystic ovary syndrome, acanthosis nigricans, and arterial hypertension. 2 Early myocardial revascularization and cases of multivessel coronary disease leading to acute myocardial infarction in a young patient (29 years) have been described. 3 We have previously described infections, liver complications, and cardiovascular disease (CVD) as causes of death in CGL patients. 4 Deaths from CVD have been reported in patients between 20 and 62 years of age, and necropsy studies have reported stiffness of intramural coronary arteries with intimal fibrosis and subendocardial collagen deposition. [4][5][6] As CGL is a rare disease, with a prevalence of 1:1,000,000, and considering patients' deaths occur precociously due to infectious, hepatic, or renal causes, 4 it is difficult

As lipodistrofias de base genética são doenças raras, com prevalência mundial de três casos em um milhão de habitantes, sendo 0,23 casos para cada um milhão para as lipodistrofias congênitas generalizadas (LCG) e 2,84 casos para cada um milhão para as lipodistrofias parciais familiares (LPF). Devido à sua raridade, ao mimetismo com outros casos de síndrome metabólica e à indisponibilidade de testes genéticos, frequentemente não são diagnosticadas. Em virtude da escassez de tecido adiposo ou da deposição em locais ectópicos, cursam com resistência insulínica e suas consequências: diabetes, hipertensão arterial, esteato-hepatite, dislipidemia (hipertrigliceridemia, HDL baixo, LDL pequeno e denso). Nos casos de LCG, a mortalidade é precoce e muitas vezes não dá tempo para desenvolver doença aterosclerótica clínica. Infecções, insuficiência renal e cirrose são as causas mais frequentes de óbito. As LPF tendem a desenvolver mais complicações cardiovasculares. O diagnóstico clínico baseia-se na composição alterada da gordura corporal, associada a acantose nigricans e hepatomegalia. Quanto aos exames laboratoriais, além das alterações usuais decorrentes de diabetes e dislipidemia, há redução de leptina e adiponectina séricas. A quantificação e análise da distribuição da gordura corporal através de DEXA de corpo inteiro auxilia o diagnóstico. Os testes genéticos, apesar de não obrigatórios, confirmam o diagnóstico. Além do tratamento do diabetes, hipertensão arterial e dislipidemia, o uso de metreleptina tem sua utilidade nos casos de LCG.