scholarly journals Novel Heterozygous Mutations of Congenital Thrombotic Thrombocytopenic Purpura: A Rare Case Report

2019 ◽  
Vol 29 (4) ◽  
pp. 295
Author(s):  
RajK Yadav ◽  
KishoreK Ariga ◽  
Arunkumar Subbiah ◽  
Soumita Bagchi ◽  
Sandeep Mahajan ◽  
...  
2019 ◽  
Vol 20 (2) ◽  
pp. 106-108
Author(s):  
Goutam Kumar Acherjya ◽  
Mohammad Ali ◽  
Keya Tarafder ◽  
Mostofa Kamal Chowdhury ◽  
Md Abdus Salam ◽  
...  

Crying with bloody tear, called haemolacria is a very rare condition in medical practice. There are many conditions such as idiopathic thrombocytopenic purpura, trauma (accidental or induced), factors deficiencies, infections (Epstein Barr virus or bacterial), tumours (malignant melanoma or haemangioma), conjunctival telangiectasia, Rendu-Oslar-Weber disease related to haemolacria. But idiopathic haemolacria may occur in some cases. In our case report, a 17-year-old girl presented with idiopathic bilateral haemolacria and gum bleeding associated with pseudoseizure and psychogenic hyperventilation who was treated and well responded to adequate counselling and Amitriptyline. J MEDICINE JUL 2019; 20 (2) : 106-108


Author(s):  
Jialiang Xu ◽  
Sijian Yu ◽  
Fuhua Zhang

Thrombotic thrombocytopenic purpura (TTP) in adults is rare thrombotic microangiopathy (TMA), which is closely related to the lack of specific proteases of von Willebrand factor (vWF) multimers. It is currently believed that both congenital TTP (cTTP) and acquired TTP (aTTP) can induce acute attack through pregnancy. We report a case of a 24-year-old woman who was diagnosed as TTP during early pregnancy. A novel mutation was detected: c.3667G>T (p.E1223*). She responded well to plasma therapy during pregnancy and had a child by cesarean section at 32 weeks. TTP is still recurrent in postpartum patients. The plasma transfusion was effective, but caused a severe transfusion reaction. Cyclosporine was administered with the consent of the patient. This case showed cyclosporine-A (CSA) had a positive effect on ADAMTS13 activity. At 11-months follow-up, the patient’s blood cells and LDH status were stable and no symptom was seen. Our case suggests that the patient had an unreported genetic mutation that causes TTP, immune factors may be involved in the onset of cTTP during pregnancy, and the use of immunosuppressive agents is effective in preventing recurrence.


2020 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Ersin Toret ◽  
Ozum Demir-Kolsuz ◽  
Zeynep Canan Ozdemir ◽  
Ozcan Bor

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