J Intern Med
December 2023
Background: Hereditary hemorrhagic telangiectasia (HHT) disease is a rare genetic disorder with symptoms and complications that can significantly affect patients' daily lives. To date, no scale has been validated to assess the specific symptoms of this disease on the quality of life (QOL) of HHT patients. This makes it difficult for clinicians to accurately measure the quality of life of patients with HHT.
View Article and Find Full Text PDFBackground/purpose: Despite conventional immunosuppressants, active and steroid-dependent systemic lupus erythematosus (SLE) represents a therapeutic challenge. Only one biologic, belimumab, has been approved, but other biologics are sometimes used off-label. Given the lack of evidence-based data in some clinical situations encountered in real life, we developed expert recommendations for the use of biologics for SLE.
View Article and Find Full Text PDFLupus anticoagulant-hypoprothrombinemia syndrome is a rare condition characterized by the association of acquired factor II deficiency and lupus anticoagulant. Contrary to classical antiphospholipid syndrome, it may cause severe life-threatening bleeding (89% of published cases). We report a patient, positive for antidomain I antibodies, with initially primary lupus anticoagulant-hypoprothrombinemia syndrome without previous clinical manifestation or underlying systemic disease.
View Article and Find Full Text PDFObjective: To investigate the validity of the global APS score (GAPSS) to predict thrombosis in patients with autoimmune diseases.
Methods: This prospective cohort study included consecutive patients with aPL or SLE. aPL, aPS-PT and GAPSS were determined.
Objective: Myotonic dystrophy type 1 (DM1) is characterized by an unstable expansion of a CTG repeat resulting in altered mRNA biogenesis. Benign or malignant tumours are increasingly reported. The aim of the study was to evaluate the risk of tumor in a cohort of patients DM1.
View Article and Find Full Text PDFHeart valve disease (HVD) is the most frequent cardiac manifestation in patients with antiphospholipid syndrome (APS), with prevalence of 30 %. The definition is based on the presence of thickening or vegetation of the valves (mainly mitral and aortic) as described by Libman and Sacks for patients with systemic lupus erythematosus (SLE). Transthoracic and/or transoesophageal echocardiography (TTE and TEE, respectively) enable early and accurate diagnosis and help avoid misdiagnosis as rheumatic valve disease.
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