La Revue de médecine interne
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Multicenter Study
[Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists].
Gaucher disease (GD) is a rare genetic lysosomal storage disorder caused by a beta-glucocerebrosidase deficiency and responsible for a lysosomal storage disorder. GD is characterized by haematological, visceral and bone involvements. The aim of this study was to describe the diagnostic journey of type 1 GD patients as well as the role of the internist. ⋯ GD seems to be better recognized and quickly diagnosed since 1990 in spite of the multiplicity of journeys. The role of the internist seems important.
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Spondyloarthritis include articular (axial, peripheral or enthesitic) and extra-articular manifestations. We reported three cases of limb lymphedema associated with a spondyloarthritis. ⋯ Limb lymphedema is a rare extra-articular manifestation of spondyloarthritis. Its course appears to be independent of joint disease. Its management is specific and should be associated to that of the rheumatologic disorder.
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Legionella-related disease is caused by an intracellular bacteria mainly living in water. Contamination results from inhalation of Legionella sp containing aerosolized water. Main risk factors are tobacco, immunodeficiency, and advanced age. ⋯ Mortality rate varies from 10 % in the general population to 50 % in intensive care. Treatment is based on macrolides or fluoroquinolones. Antibiotic resistance is very rare.
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Hodgkin's lymphoma (HL) is less common than non-Hodgkin lymphoma and is rarely associated with autoimmune cytopenia. ⋯ In our series, the predominance of males, a higher frequency of immune thrombocytopenia than autoimmune hemolytic anemia, the resistance to usual treatments and the efficacy of specific chemotherapy were consistent with the literature. Unexpectedly, patients were young and with nodular sclerosis morphology (vs. mixed cellularity) in 3 of 4 cases.