Single nucleotide polymorphisms of the inflamatory cytokine genes: interleukin-1B, tumor necrosis factors-A and tumor necrosis factor-B in adult patients with immune thrombocytopenia.

Immune thrombocytopenia (ITP) is an autoimmune disease characterized by thrombocytopenia due to platelet autoantibodies, causing an accelerated clearance of opsonized platelets by phagocytes. The etiology of ITP remains unclear, both genetic and environmental factors may have a role in the disease development. The aim of our study was to investigate a possible association of three single nucleotide polymorphisms (SNP) in the genes for interleukin beta (IL1B-511C/T), tumor necrosis factor beta (TNF+252G/A) and tumor necrosis factor alpha (TNFA-308G/A) with ITP. We have analyzed 125 adult patients with ITP and 120 healthy matched controls. Genotyping was performed by using PCR- RFLP methods. Our results demonstrated significantly different genotype distributions and allele frequencies for TNFB+252G/A in patients with ITP, p = 0.005 and p = 0.009 with Yates correction. We did not find any significant differences in the genotype distribution or allele frequencies for the other two genes. We have found significantly different genotype distribution and allele frequencies for TNFA-308G/A between patients with unresponsive and responsive ITP patients, p = 0.016 and p = 0.009. There were no significant differences in genotype distribution and allele frequencies for ILB-511C/T and TNFB+252G/A polymorphisms between those two groups of patients. We did not find any significant differences in genotype distribution and allele frequencies for all three polymorphisms between splenectomized and unsplenectomized ITP patients. The obtained data indicate that the A allele of TNFB+252G/A is more frequent in these patients than in the controls and that this polymorphism may play a significant role in disease susceptibility. The A allele of TNFA-308G/A was more frequent in patients with unresponsive ITP, indicating that this gene polymorphisms may contribute to therapy resistance.

Immune thrombocytopenic purpura in adults in the last 10 years: single-centre experience.

BACKGROUND: Immune thrombocytopenic purpura (ITP) is a benign disease with low morbidity and mortality and frequent remissions that occur spontaneously or in response to first-line treatment with steroids or splenectomy. AIM: The purpose of this study is to describe the clinical outcomes of 170 patients with ITP diagnosed and/or treated in our hospital between 2000 and 2010. METHODS AND RESULTS: The median age at diagnosis was 47 years. Forty three (25%) were asymptomatic, 65% had minor skin or mucosal bleeding and 10% had significant bleeding from the gastrointestinal or genitourinary system. The median platelet count at diagnosis was 13x10(9)/L (range: 0-98x10(9)/L). Median follow-up of all patients was 13 months. Ninety-five patients had a follow-up longer than 12 months, with median 44 months (range 14-384). Corticosteroids were the initial treatment for 161/170 (95%) patients, 38 (22%) were splenectomized, 25 (14.7%) were treated with intravenous gamma globulins, while 9 did not received any specific treatment. A complete response to initial treatment (prednisone±splenectomy) was achieved in 55/161 (34.2%), a partial response in 90 (55.9%) and no response in 16 (9.9%) patients. In the group of patients with follow-up longer than 1 year; 28 (29%) patients had refractory or unresponsive ITP with a median follow-up of 66 months. All patients with refractory ITP were treated with steroids, 11 were splenctomized, significantly more patients with refractory ITP 12 (43%) were treated with IVIG compared with other ITP patients (16%), p=0.005. The median age of 38 splenectomized patients was 28 years and it is significantly different from the other patients (p<0.001). There were no significant differences in other characteristics between splenctomized or refractory ITP and other patients at diagnosis. CONCLUSION: Our results were similar to results already reported in other similar studies.