La Revue de médecine interne
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AA amyloidosis is secondary to the deposit of excess insoluble Serum Amyloid A (SAA) protein fibrils. AA amyloidosis complicates chronic inflammatory diseases, especially chronic inflammatory rheumatisms such as rheumatoid arthritis and spondyloarthritis; chronic infections such as tuberculosis, bronchectasia, chronic inflammatory bowel diseases such as Crohn's disease; and auto-inflammatory diseases including familial Mediterranean fever. This work consists of the French guidelines for the diagnosis workup and treatment of AA amyloidosis. ⋯ The treatement relies on the etiologic treatment of the undelying chronic inflammatory disease to decrease and/or normalize Serum Amyloid A protein concentration in order to stabilize amyloidosis. In case of renal failure, dialysis or even a kidney transplant can be porposed. Nowadays, there is currently no specific treatment for AA amyloidosis deposits which constitutes a therapeutic challenge for the future.
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Gaucher disease is an autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase which leads to an accumulation of glucosylceramide in the macrophages. Splenomegaly, hepatomegaly, cytopenias (anemia, thrombocytopenia) and bone disorders are the main symptoms. The diagnosis is often delayed, leading to unnecessary investigations and treatments, and delaying the specific treatment. The primary objective of our study was to establish, in patients who had a diagnostic delay of more than one year, the reported misdiagnoses before the final diagnosis. The secondary objectives were to investigate the risk factors associated with error and delayed diagnosis. ⋯ There is a risk of diagnostic error related to phenotypic heterogeneity and lack of specificity of Gaucher disease symptoms. This study helps to better identify the misdiagnoses associated with Gaucher disease.
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Behçet disease is a multi-systemic complex vasculitis with unknown etiology characterized by different clinical involvements, including mucocutaneous, ocular, vascular, articular, neurological and gastrointestinal manifestations. Growing evidence supports that different phenotypes, characterized by clusters of co-existing involvements, can be distinguished. Namely, the vascular phenotype identifies a specific group of patients who suffer from recurrent inflammatory thrombosis and arterial involvement. ⋯ Arterial disease involves mostly pulmonary arteries and aorta and manifests mainly in the form of aneurysms. Glucocorticoids and immunosuppressant's are the recommended first-line treatments in vasculo-Behçet. Furthermore, randomized controlled trials are still needed to assess the role of adding anticoagulation to current standard therapy in venous thrombosis in Behçet's disease and to assess the role of anti-TNF alpha therapy in vasculo-Behçet.
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Chronic periaortitis (CP) is a rare disease characterised by the presence of a fibro-inflammatory tissue typically enveloping the abdominal aorta, the iliac arteries and, in some cases, the nearby structures, such as the ureters and the inferior vena cava. Imaging plays a key role in the diagnosis and follow-up: computed tomography and magnetic resonance imaging scans are used to define the extension of the pathological tissue, whereas fluorodeoxyglucose positron emission tomography is the gold standard to establish the degree of its metabolic activity. CP must be distinguished from secondary forms of periaortic infiltration, which include malignant, infectious, and drug-related aetiologies. This review focuses on the clinical aspects of CP and the differential diagnosis with secondary cases, and aims to provide the clinician with a guide through this challenging clinical approach.