This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

AA amyloidosis is a rare complication of chronic inflammatory disorders and has been associated with rheumatoid arthritis and ankylosing spondylitis.We present a case of AA amyloidosis secondary to Sjogren’s syndrome (SS). A 79-year-old woman presented with rapidly progressive renal failure and complaints of asthenia, anorexia and generalized oedema. She had severe renal failure (creatinine 6.0 mg/dl), with microscopic haematuria, nephrotic proteinuria and low serum albumin levels, and an increased erythrocyte sedimentation rate. Serum protein electrophoresis revealed a peak in the gamma globulin zone. The patient was started on haemodialysis and corticosteroids. Clinical results showed the patient met the diagnostic criteria for primary SS, and neoplastic haematological disease was excluded. Renal biopsy revealed a diagnosis of AA amyloidosis.Renal AA amyloidosis is a rare condition in patients with primary SS. However, in patients with proteinuria and/or renal failure, it should be included in the differential diagnosis and a renal biopsy should be performed.LEARNING POINTSSjogren’s syndrome should be regarded as a predisposing condition for the development of renal AA amyloidosis.Sjogren’s syndrome and renal AA amyloidosis have been diagnosed simultaneously in some patients.A renal biopsy should be performed in patients with Sjogren’s syndrome and proteinuria and/or renal failure.

A 60-year-old man, with a history of familial lipodystrophy, hypertriglyceridaemia, hepatic steatosis and bone cysts, was admitted due an acute coronary event. Coronary angiography showed significant stenosis in the left anterior descending artery, which was treated. Transthoracic echocardiography showed a slightly dilated left ventricle with diffuse and heterogeneous thickening of its walls, slightly decreased left ventricular function and reduced global longitudinal strain. Due to these echocardiographic findings, cardiac magnetic resonance imaging was requested, which identified intramyocardial diffuse fibrosis of the basal septum and points of insertion of the left and right ventricles, without oedema, microvascular obstruction or myocardial infarction. Owing to the constellation of symptoms and distinctive features on cardiac imaging, a diagnosis of Berardinelli-Seip congenital lipodystrophy (BSCL) was suspected, which was confirmed through genetic testing of the pathogenic variants in BSCL2 and AGPAT2. BSCL is a rare autosomal recessive syndrome characterized by the congenital absence of adipose tissue and triglyceride deposition in other tissues, such as muscle, liver and heart.

Introdução: O tromboembolismo venoso (TEV) engloba a trombose venosa profunda (TVP) e a embolia pulmonar (EP). O doseamento de D-dímeros tem uma sensibilidade superior a 95% e um elevado valor preditivo negativo para TEV. Propusemo- nos a analisar episódios de urgência em que foram doseados D-dímeros. As variáveis pesquisadas foram: sintomas ou sinais presentes, a adequabilidade do pedido de D-dímeros de acordo com a probabilidade pré-teste, a realização de tomografia computorizada com angiografia (angio-TC) e a confirmação/ exclusão de TEV. Métodos: Análise retrospetiva dos episódios de urgência de 1 de julho a 31 de dezembro de 2017, referentes a doentes com mais de 18 anos, com doseamento de D-dímeros. Resultados: Foram incluídos 589 episódios. O género feminino representou 61,3% (n = 361) da amostra e a idade média foi de 62 ± 19 anos. Observamos doseamento de D-dímeros em doentes sem clínica sugestiva de TEV, em 110 episódios (19%). Em quatro doentes com alta-probabilidade pré-teste foi efetuado doseamento de D-dímeros; os D-dímeros estavam elevados em 55,5% de todos os episódios (327/589), mas apenas 28,1% (n = 92) destes fizeram angio-TC. O número total de casos de TEV confirmados foi de 27 (4,6%). Discussão e Conclusão: Os resultados obtidos estão de acordo com a literatura. Reportam-se 3 erros na abordagem diagnóstica: doseamento de D-dímeros em doentes sem clínica sugestiva de TEV; doentes com alta-probabilidade submetidos a doseamento de D-dímeros; doentes com elevação de D-dímeros sem realização de angio-TC. Realçamos o interesse desta análise do ponto de vista económico e de não-maleficência no que respeita ao uso excessivo de exames no diagnóstico de TEV.

No abstract