Immune Thrombocytopenic purpura(ITP)is a haematologicimmune-mediated disorder in which the amount of platelet in the blood decreases abnormally.Single-agent therapies for ITP have not proven successful in achieving lo...Immune Thrombocytopenic purpura(ITP)is a haematologicimmune-mediated disorder in which the amount of platelet in the blood decreases abnormally.Single-agent therapies for ITP have not proven successful in achieving long-term remission,with relapse occurring in about half of the patients(p/t).Treatment options which include Rituximab with Dexamethasone as frontline therapy,have durable response rates ranging from 58%to 76%.In this study,we have used‘Total therapy’as treatment which includes low-dose Rituximab in combination with Thrombopoietin receptor agonist(TPO-RA)(Romiplostim)and high-dose Dexamethasone.In this case series study,each patient received romiplostim(250 mcg weekly s/c,4 doses)in combination with low-dose rituximab(100 mg weekly IV,4 doses)and high-dose dexamethasone(40 mgIV on days 1-4and days 15-18).This treatment combination demonstrated rapid response rates and a low rate of side effects,making it a good alternative for individuals with ITP.展开更多
Hyperthyroidism and thrombocytopenia have long been associated with each other. We present a case of 38 years old female presenting with complaints of bleeding from gums, bleeding per rectum, hematuria and easy bruisi...Hyperthyroidism and thrombocytopenia have long been associated with each other. We present a case of 38 years old female presenting with complaints of bleeding from gums, bleeding per rectum, hematuria and easy bruising since 7 days ago. She also had a diffuse, non-tender neck swelling moving with deglutition and positive bruit on auscultation. Her laboratory results indicated thrombocytopenia (22 × 10^9/L) and her thyroid function test revealed TSH of 0.01 mIU/ml (normal: 0.17 - 4.05), free T3 of 19.19 pg/ml (normal: 1.6 - 3.7), free T4 of 4.09 ng/dl (normal: 0.89 - 1.79). Thyroid scan showed diffuse goiter with increased tracer uptake. Furthermore, her serum anti-thyroglobulin and anti-thyroid peroxide were elevated to 205 IU/ml and 713 IU/ml respectively. She was started on carbimazole and methylprednisolone immediately. On the 3rd day of admission, she was tested to be positive for Plasmodium Vivax after a fever spike and was started on Chloroquine (CQ) and later shifted to Primaquine (PQ). During 2 weeks of admission, her platelet count kept fluctuating between <10 × 10^9/L and <100 × 10^9/L with frequent transfusions of mega units of platelets. During 3rd week, her platelets improved and she was discharged with a platelet count of 370 × 10^9/L. This case, therefore, supports the association between autoimmune thyroid diseases such as Graves’ disease and idiopathic thrombocytopenic purpura (ITP) strongly suggesting the need for evaluating thyroid disease in cases of severe thrombocytopenia especially those refractory to treatment. Also, the effectiveness of treatment of thyroid disease on thrombocytopenia is also highlighted. In addition, it showed the possible added exacerbating effects of malarial infection on thrombocytopenia.展开更多
Objective Thrombotic thrombocytopenic purpura(TTP)is a rare and fatal disease caused by a severe deficiency in the metalloprotease ADAMTS13 and is characterized by thrombotic microangiopathy.The present study aimed to...Objective Thrombotic thrombocytopenic purpura(TTP)is a rare and fatal disease caused by a severe deficiency in the metalloprotease ADAMTS13 and is characterized by thrombotic microangiopathy.The present study aimed to investigate the genes and variants associated with TTP in a Chinese population.Methods Target sequencing was performed on 220 genes related to complements,coagulation factors,platelets,fibrinolytic,endothelial,inflammatory,and anticoagulation systems in 207 TTP patients and 574 controls.Subsequently,logistic regression analysis was carried out to identify the TTP-associated genes based on the counts of rare deleterious variants in the region of a certain gene.Moreover,the associations between common variants and TTP were also investigated.Results ADAMTS13 was the only TTP-associated gene(OR=3.77;95%CI:1.82–7.81;P=3.6×10^(-4))containing rare deleterious variants in TTP patients.Among these 8 variants,5 novel rare variants that might contribute to TTP were identified,including rs200594025,rs782492477,c.T1928G(p.I643S),c.3336_3361del(p.Q1114Afs*20),and c.3469_3470del(p.A1158Sfs*17).No common variants associated with TTP were identified under the stringent criteria of correction for multiple testing.Conclusion ADAMTS13 is the primary gene related to TTP.The genetic variants associated with the occurrence of TTP were slightly different between the Chinese and European populations.展开更多
We report the first case of a patient with hepatitis C virus(HCV) infection and idiopathic thrombocytopenic purpura(ITP), who later developed acquired amegakaryocytic thrombocytopenia(AAMT), with autoantibodies to the...We report the first case of a patient with hepatitis C virus(HCV) infection and idiopathic thrombocytopenic purpura(ITP), who later developed acquired amegakaryocytic thrombocytopenia(AAMT), with autoantibodies to the thrombopoietin(TPO) receptor(c-Mpl). A 64-year-old woman, with chronic hepatitis C, developed severe thrombocytopenia and was diagnosed with ITP. She died of liver failure. Autopsy revealed cirrhosis and liver carcinoma. In the bone marrow, a marked reduction in the number of megakaryocytes was observed, while other cell lineages were preserved. Therefore, she was diagnosed with AAMT. Additionally, autoantibodies to c-Mpl were detected in her serum. Autoantibodies to c-Mpl are one of the causes of AAMT, acting through inhibition of TPO function, megakaryocytic maturation, and platelet formation. HCV infection induces several autoantibodies. HCV infection might also induce autoantibodies to c-Mpl, resulting in the development of AAMT. This mechanism may be one of the causes of thrombocytopenia in patients with HCV infection.展开更多
Immune thrombocytopenia(ITP)is an autoimmune disease mediated by anti-platelet autoantibodies.There is growing evidence that the eradication of Helicobacter pylori(H.pylori)effectively increases platelet count in a co...Immune thrombocytopenia(ITP)is an autoimmune disease mediated by anti-platelet autoantibodies.There is growing evidence that the eradication of Helicobacter pylori(H.pylori)effectively increases platelet count in a considerable proportion of ITP patients infected with this bacterium.In the majority of ITP patients responding to H.pylori eradication therapy,the anti-platelet autoantibody response is completely resolved with no relapse for more than 7 years,indicating that the disease is cured.Therefore,adult patients with suspected ITP should be examined for H.pylori infection,and eradication therapy is recommended if the infection is present.Notably,however,the efficacy of H.pylori eradication therapy in ITP patients varies widely among countries,with a higher response rate in Japan compared with the United States and European countries other than Italy.The pathogenesis of H.pylori-associated ITP is still uncertain,although the mechanisms are known to involve multiple factors.H.pylori may modulate the Fcγ-receptor balance of monocytes/macrophages in favor of activating Fcγreceptors,and H.pylori components may mimic the molecular makeup of platelet antigens.Further studies of the pathogenic process of H.pyloriassociated ITP may be useful for the development of new therapeutic strategies for ITP.展开更多
A variety of clinical manifestations are associated directly or indirectly with tuberculosis. Among them, haematological abnormalities can be found in both the pulmonary and extrapulmonary forms of the disease. We rep...A variety of clinical manifestations are associated directly or indirectly with tuberculosis. Among them, haematological abnormalities can be found in both the pulmonary and extrapulmonary forms of the disease. We report a case of immune thrombocytopenic purpura(ITP) associated with intestinal tuberculosis in a liver transplant recipient. The initial management of thrombocytopenia, with steroids and intravenous immunoglobulin, was not successful, and the lack oftuberculosis symptoms hampered a proper diagnostic evaluation. After the diagnosis of intestinal tuberculosis and the initiation of specific treatment, a progressive increase in the platelet count was observed. The mechanism of ITP associated with tuberculosis has not yet been well elucidated, but this condition should be considered in cases of ITP that are unresponsive to steroids and intravenous immunoglobulin, especially in immunocompromised patients and those from endemic areas.展开更多
Alloimmunization to platelet antigens exposes to a serious immunological incident. We report a probable case of a post-transfusion purpura from homozygous sickle cell child alloimmunized against platelet antigen. We d...Alloimmunization to platelet antigens exposes to a serious immunological incident. We report a probable case of a post-transfusion purpura from homozygous sickle cell child alloimmunized against platelet antigen. We detail the challenges of alloantibody identification and transfusion management. These challenges are due to the lack of laboratory techniques for typing HLA and HPA system and the use of leukocyte-depleted (filtered) blood products.展开更多
We present a case of a 29-year-old female from Sudan, who was diagnosed with rheumatoid arthritis (RA) in 2005 and with immune thrombocytopenic purpura (ITP) in 2009. The ITP immediately followed using, for four weeks...We present a case of a 29-year-old female from Sudan, who was diagnosed with rheumatoid arthritis (RA) in 2005 and with immune thrombocytopenic purpura (ITP) in 2009. The ITP immediately followed using, for four weeks, a combination of medications that included rifampicin. The platelets count continued to be low thereafter. During the year following her diagnosis with ITP, she reported gradual improvement in her joints symptoms, which continued during her pregnancy in 2011. Following puerperium, her chronic ITP resolved completely;however, her joint disease flared up few months later. To our knowledge, there are no reported cases of chronic ITP, which were drug induced at first in a patient of RA except with gold therapy. Similarly, there are no reports on cases that recovered from chronic ITP after delivery. Finally, this case highlights the impact different coexisting autoimmune diseases may have on each other regarding course and prognosis.展开更多
文摘Immune Thrombocytopenic purpura(ITP)is a haematologicimmune-mediated disorder in which the amount of platelet in the blood decreases abnormally.Single-agent therapies for ITP have not proven successful in achieving long-term remission,with relapse occurring in about half of the patients(p/t).Treatment options which include Rituximab with Dexamethasone as frontline therapy,have durable response rates ranging from 58%to 76%.In this study,we have used‘Total therapy’as treatment which includes low-dose Rituximab in combination with Thrombopoietin receptor agonist(TPO-RA)(Romiplostim)and high-dose Dexamethasone.In this case series study,each patient received romiplostim(250 mcg weekly s/c,4 doses)in combination with low-dose rituximab(100 mg weekly IV,4 doses)and high-dose dexamethasone(40 mgIV on days 1-4and days 15-18).This treatment combination demonstrated rapid response rates and a low rate of side effects,making it a good alternative for individuals with ITP.
文摘Hyperthyroidism and thrombocytopenia have long been associated with each other. We present a case of 38 years old female presenting with complaints of bleeding from gums, bleeding per rectum, hematuria and easy bruising since 7 days ago. She also had a diffuse, non-tender neck swelling moving with deglutition and positive bruit on auscultation. Her laboratory results indicated thrombocytopenia (22 × 10^9/L) and her thyroid function test revealed TSH of 0.01 mIU/ml (normal: 0.17 - 4.05), free T3 of 19.19 pg/ml (normal: 1.6 - 3.7), free T4 of 4.09 ng/dl (normal: 0.89 - 1.79). Thyroid scan showed diffuse goiter with increased tracer uptake. Furthermore, her serum anti-thyroglobulin and anti-thyroid peroxide were elevated to 205 IU/ml and 713 IU/ml respectively. She was started on carbimazole and methylprednisolone immediately. On the 3rd day of admission, she was tested to be positive for Plasmodium Vivax after a fever spike and was started on Chloroquine (CQ) and later shifted to Primaquine (PQ). During 2 weeks of admission, her platelet count kept fluctuating between <10 × 10^9/L and <100 × 10^9/L with frequent transfusions of mega units of platelets. During 3rd week, her platelets improved and she was discharged with a platelet count of 370 × 10^9/L. This case, therefore, supports the association between autoimmune thyroid diseases such as Graves’ disease and idiopathic thrombocytopenic purpura (ITP) strongly suggesting the need for evaluating thyroid disease in cases of severe thrombocytopenia especially those refractory to treatment. Also, the effectiveness of treatment of thyroid disease on thrombocytopenia is also highlighted. In addition, it showed the possible added exacerbating effects of malarial infection on thrombocytopenia.
基金supported by the National Natural Science Foundation of China(No.82003561).
文摘Objective Thrombotic thrombocytopenic purpura(TTP)is a rare and fatal disease caused by a severe deficiency in the metalloprotease ADAMTS13 and is characterized by thrombotic microangiopathy.The present study aimed to investigate the genes and variants associated with TTP in a Chinese population.Methods Target sequencing was performed on 220 genes related to complements,coagulation factors,platelets,fibrinolytic,endothelial,inflammatory,and anticoagulation systems in 207 TTP patients and 574 controls.Subsequently,logistic regression analysis was carried out to identify the TTP-associated genes based on the counts of rare deleterious variants in the region of a certain gene.Moreover,the associations between common variants and TTP were also investigated.Results ADAMTS13 was the only TTP-associated gene(OR=3.77;95%CI:1.82–7.81;P=3.6×10^(-4))containing rare deleterious variants in TTP patients.Among these 8 variants,5 novel rare variants that might contribute to TTP were identified,including rs200594025,rs782492477,c.T1928G(p.I643S),c.3336_3361del(p.Q1114Afs*20),and c.3469_3470del(p.A1158Sfs*17).No common variants associated with TTP were identified under the stringent criteria of correction for multiple testing.Conclusion ADAMTS13 is the primary gene related to TTP.The genetic variants associated with the occurrence of TTP were slightly different between the Chinese and European populations.
文摘We report the first case of a patient with hepatitis C virus(HCV) infection and idiopathic thrombocytopenic purpura(ITP), who later developed acquired amegakaryocytic thrombocytopenia(AAMT), with autoantibodies to the thrombopoietin(TPO) receptor(c-Mpl). A 64-year-old woman, with chronic hepatitis C, developed severe thrombocytopenia and was diagnosed with ITP. She died of liver failure. Autopsy revealed cirrhosis and liver carcinoma. In the bone marrow, a marked reduction in the number of megakaryocytes was observed, while other cell lineages were preserved. Therefore, she was diagnosed with AAMT. Additionally, autoantibodies to c-Mpl were detected in her serum. Autoantibodies to c-Mpl are one of the causes of AAMT, acting through inhibition of TPO function, megakaryocytic maturation, and platelet formation. HCV infection induces several autoantibodies. HCV infection might also induce autoantibodies to c-Mpl, resulting in the development of AAMT. This mechanism may be one of the causes of thrombocytopenia in patients with HCV infection.
基金Supported by A research grant for Research on Intractable Diseases from the Japanese Ministry of Health,Labor,and Welfare,No.H23-Nanchi-Ippan-002
文摘Immune thrombocytopenia(ITP)is an autoimmune disease mediated by anti-platelet autoantibodies.There is growing evidence that the eradication of Helicobacter pylori(H.pylori)effectively increases platelet count in a considerable proportion of ITP patients infected with this bacterium.In the majority of ITP patients responding to H.pylori eradication therapy,the anti-platelet autoantibody response is completely resolved with no relapse for more than 7 years,indicating that the disease is cured.Therefore,adult patients with suspected ITP should be examined for H.pylori infection,and eradication therapy is recommended if the infection is present.Notably,however,the efficacy of H.pylori eradication therapy in ITP patients varies widely among countries,with a higher response rate in Japan compared with the United States and European countries other than Italy.The pathogenesis of H.pylori-associated ITP is still uncertain,although the mechanisms are known to involve multiple factors.H.pylori may modulate the Fcγ-receptor balance of monocytes/macrophages in favor of activating Fcγreceptors,and H.pylori components may mimic the molecular makeup of platelet antigens.Further studies of the pathogenic process of H.pyloriassociated ITP may be useful for the development of new therapeutic strategies for ITP.
文摘A variety of clinical manifestations are associated directly or indirectly with tuberculosis. Among them, haematological abnormalities can be found in both the pulmonary and extrapulmonary forms of the disease. We report a case of immune thrombocytopenic purpura(ITP) associated with intestinal tuberculosis in a liver transplant recipient. The initial management of thrombocytopenia, with steroids and intravenous immunoglobulin, was not successful, and the lack oftuberculosis symptoms hampered a proper diagnostic evaluation. After the diagnosis of intestinal tuberculosis and the initiation of specific treatment, a progressive increase in the platelet count was observed. The mechanism of ITP associated with tuberculosis has not yet been well elucidated, but this condition should be considered in cases of ITP that are unresponsive to steroids and intravenous immunoglobulin, especially in immunocompromised patients and those from endemic areas.
文摘Alloimmunization to platelet antigens exposes to a serious immunological incident. We report a probable case of a post-transfusion purpura from homozygous sickle cell child alloimmunized against platelet antigen. We detail the challenges of alloantibody identification and transfusion management. These challenges are due to the lack of laboratory techniques for typing HLA and HPA system and the use of leukocyte-depleted (filtered) blood products.
文摘We present a case of a 29-year-old female from Sudan, who was diagnosed with rheumatoid arthritis (RA) in 2005 and with immune thrombocytopenic purpura (ITP) in 2009. The ITP immediately followed using, for four weeks, a combination of medications that included rifampicin. The platelets count continued to be low thereafter. During the year following her diagnosis with ITP, she reported gradual improvement in her joints symptoms, which continued during her pregnancy in 2011. Following puerperium, her chronic ITP resolved completely;however, her joint disease flared up few months later. To our knowledge, there are no reported cases of chronic ITP, which were drug induced at first in a patient of RA except with gold therapy. Similarly, there are no reports on cases that recovered from chronic ITP after delivery. Finally, this case highlights the impact different coexisting autoimmune diseases may have on each other regarding course and prognosis.
