1/6. AlphaIFN-induced hematologic and cytogenetic remission in chronic eosinophilic leukemia with t(1;5).Chronic eosinophilic leukemia (CEL) is a myeloproliferative disease characterized by excessive eosinophilic proliferation with clonal cytogenetic abnormalities. The most frequent cytogenetic abnormality is a break in the q 31-35 region of chromosome 5, where genes encoding for IL-3, IL-5 and GM-CSF (all cytokines involved in eosinophilopoiesis) are located. We report the case of a patient with CEL with t(1;5) (q23;q31), who obtained complete hematologic and major cytogenetic response after two years of alpha-interferon (alpha-IFN) therapy. Two other cases of complete response to alpha-IFN are reported in the literature. A trial with alpha-IFN could be considered as front line treatment in this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/6. Hypereosinophilic sclerosing cholangitis: findings using half-Fourier magnetic resonance imaging.Hypereosinophilic sclerosing cholangitis is a rare disease caused by eosinophilic infiltration of the gallbladder and biliary tract seen in the idiopathic hypereosinophilic syndrome. We report a 42-year-old woman who presented with symptoms of cholecystitis and obstructive cholangitis. Imaging with magnetic resonance cholangiography using a half-Fourier spinecho sequence, we were able to visualize rapidly and non-invasively a severely abnormal gallbladder, evidence of liver parenchymal inflammation, and biliary duct dilatation.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/6. Idiopathic hypereosinophilic syndrome: a case evolving in B-lymphoblastic lymphoma.Idiopathic hypereosinophilic syndrome (HES) is a rare disease characterized by tissue involvement and organ dysfunction due to abnormal eosinophil proliferation. Evolution of HES into myeloid or T-cell malignancies has been frequently reported. Here, we describe a case of HES that preceded the occurrence of a high-grade B-lymphoblastic lymphoma in which clonal evolution has been demonstrated at the molecular level.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/6. Idiopathic hypereosinophilic syndrome revealed by central nervous system dysfunction.The idiopathic hypereosinophilic syndrome (HES) is a rare disease, characterised by persistent eosinophilia (> 1500/mm3), without underlying cause, provoking multiple organ system injury. morbidity and mortality are mostly associated with the HES cardiopathy. Neurological signs are also frequent. Neurological dysfunction can be central (encephalopathy, organic psycho-syndrome) and peripheral (polyneuropathy, mononeuropathia multiplex, autonomic neuropathy, polymyositis). The encephalopathy is not always caused by distant thrombo-embolic events originating from the HES cardiopathy. We describe a patient with idiopathic HES central nervous system dysfunction, in the absence of cardiopathy. Furthermore we briefly discuss pathophysiological aspects, treatment modalities and the prognosis of the HES, in relation to our patient.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/6. Eosinophilic gastroenteritis.Eosinophilic gastroenteritis is a rare disease of unknown aetiology characterized by eosinophilic infiltration of the gastrointestinal wall and increased peripheral blood eosinophilia. The frequent finding of concomitant extradigestive involvement calls for differential diagnosis to distinguish some multisystemic pathologies, such as connective tissue disease. We recently treated a young woman affected by eosinophilic infiltration of the small and large intestine which spread to other organs. Tests ruled out allergic or parasitic aetiopathogenesis of the disease. The clinical, biological and evolutive findings suggest that eosinophilic gastroenteritis may evolve into idiopathic hypereosinophilic syndrome.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/6. 2-Chlorodeoxyadenosine therapy for idiopathic hypereosinophilic syndrome.Idiopathic hypereosinophilic syndrome (HES) is a rare disease with no established effective therapy. It has been reported that interleukin-5 (IL-5) produced by helper T cells plays a major role in the proliferation of eosinophils. The nucleotide analogue 2-chlorodeoxyadenosine (2-CdA), which induces excellent clinical responses in hairy cell leukemia, is known to suppress helper T cells; therefore, we used 2-CdA, alone or in combination with cytarabine, to treat patients with idiopathic HES. 2-CdA alone and combined with cytarabine resulted in a rapid and sustained decrease in circulating eosinophils in two patients with idiopathic HES that was refractory to steroids, hydroxyurea and cytarabine. The efficacy of 2-CdA alone and combined with cytarabine exceeded by far that of cytarabine alone. However, reverse transcription-polymerase chain reaction (RT-PCR) did not show production of IL-5 or granulocyte-macrophage colony-stimulating factor mRNA in T cells as previously reported, and multiple cytokine receptors were found on eosinophils in idiopathic HES, suggesting that IL-5 may not be the sole cytokine involved in the regulation of idiopathic HES. The clinical efficacy of 2-CdA in idiopathic HES needs to be established on a large group of patients.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |