Objective: To report the clinical manifestations and laboratory features of five patients with congenital thrombotic thrombocytopenic purpura (cTTP) and explore its standardized clinical diagnosis and treatment along with a review of literature. Methods: Clinical data of patients, such as age of onset, disease manifestation, personal history, family history, and misdiagnosed disease, were collected. Treatment outcomes, therapeutic effects of plasma infusion, and organ function evaluation were observed. The relationship among the clinical manifestations, treatment outcomes, and ADAMTS13 gene mutation of patients with cTTP was analyzed. Additionally, detection of ADAMTS13 activity and analysis of ADAMTS13 gene mutation were explored. Results: The age of onset of cTTP was either in childhood or adulthood except in one case, which was at the age of 1. The primary manifestations were obvious thrombocytopenia, anemia, and different degrees of nervous system involvement. Most of the patients were initially suspected of having immune thrombocytopenia. Acute cTTP was induced by pregnancy and infection in two and one case, respectively. ADAMTS13 gene mutation was detected in all cases, and there was an inherent relationship between the mutation site, clinical manifestations, and degree of organ injury. Therapeutic or prophylactic plasma transfusion was effective for treating cTTP. Conclusions: The clinical manifestations of cTTP vary among individuals, resulting in frequent misdiagnosis that delays treatment. ADAMTS13 activity detection in plasma and ADAMTS13 gene mutation analysis are important bases to diagnose cTTP. Prophylactic plasma transfusion is vital to prevent the onset of the disease.
Female ; Pregnancy ; Humans ; Adult ; Blood Component Transfusion ; Plasma ; Purpura, Thrombotic Thrombocytopenic/therapy* ; Mutation ; Purpura, Thrombocytopenic, Idiopathic ; ADAMTS13 Protein/therapeutic use*

No abstract available.
Purpura ; Purpura, Thrombocytopenic, Idiopathic

No abstract available.
Pregnancy* ; Purpura, Thrombotic Thrombocytopenic*

No abstract available.
Purpura, Thrombotic Thrombocytopenic*

Henoch-Schonlein purpura (HSP) is rarely associated with other autoimmune diseases. We experienced a case of HSP that was associated with idiopathic thrombocytopenic purpura (ITP). A 65-year old male patient complained of fever, purpura, generalized edema and arthralgia. He was diagnosed with HSP and his condition was improved with high-dose corticosteroid treatment. In 12 weeks, the symptoms of HSP were improving, however a thrombocytopenia developed. There was no reasonable cause for thrombocytopenia on the evaluation. He was diagnosed with ITP after bone marrow biopsy. Due to the refractory thrombocytopenia, which didn't respond to other medical treatments, we then performed splenectomy and the patient showed a good response. We report here on the first case of HSP and ITP, and we include a review of the related literature.
Arthralgia ; Autoimmune Diseases ; Biopsy ; Bone Marrow ; Edema ; Fever ; Humans ; Male ; Purpura ; Purpura, Schoenlein-Henoch ; Purpura, Thrombocytopenic, Idiopathic ; Splenectomy ; Thrombocytopenia

In Behcet's disease, thrombocytopenia has rarely been reported in association with the hemolytic uremic syndrome, thrombotic thrombocytopenic purpura or in association with cyclosporine or chlorambucil in the treatment of ocular inflammatory disease and meningoencephalitis. In this paper we report a case of thrombocytopenia in a 33-year-old female with Behcet's disease who has taken no medications for three years. After history taking, physical examination, routine laboratory and bone marrow examination, we diagnosed her case as idiopathic thrombocytopenic purpura (ITP). She recovered with high dose steroid treatment. To our knowledge, this is the first report having ITP in a patient with Behcet's disease.
Adult ; Bone Marrow Examination ; Chlorambucil ; Cyclosporine ; Female ; Hemolytic-Uremic Syndrome ; Humans ; Meningoencephalitis ; Physical Examination ; Purpura, Thrombocytopenic, Idiopathic* ; Purpura, Thrombotic Thrombocytopenic ; Thrombocytopenia

We describe here the case a patient with advanced cervix carcinoma and who developed idiopathic thrombocytopenic purpura (ITP). A 63-year-old woman with stage IV squamous cell carcinoma of the uterine cervix and that was complicated by hydronephrosis was treated palliatively with 45Gy of external beam radiation to the pelvis. About 3 years later, she developed hematochezia and severe thrombocytopenia. The laboratory examinations showed no evidence of thrombotic thrombocytopenic purpura or disseminated intravascular coagulopathy, and she was positive for serum anti-platelet antibodies. On the bone marrow examination, there was a normal number and morphology of megakaryocytes with no evidence of malignant cell infiltration. We made the clinical diagnosis of ITP, and the intravenous immunoglobulin and steroid therapy was successful. This case suggests the possibility that ITP can occur in association with advanced cervix carcinoma.
Antibodies ; Bone Marrow Examination ; Carcinoma, Squamous Cell ; Cervix Uteri ; Female ; Gastrointestinal Hemorrhage ; Humans ; Hydronephrosis ; Immunoglobulins ; Megakaryocytes ; Middle Aged ; Pelvis ; Purpura, Thrombocytopenic, Idiopathic ; Purpura, Thrombotic Thrombocytopenic ; Thrombocytopenia

No abstract available.
Purpura, Thrombocytopenic, Idiopathic*

No abstract available.
Purpura, Thrombocytopenic, Idiopathic*

No abstract available.
Methylprednisolone* ; Purpura, Thrombocytopenic, Idiopathic*