scholarly journals Congenital Factor VII Deficiency Presenting With Isolated Recurrent Hematuria: A Case Report

2021 ◽  
Author(s):  
Shahla Ansari Damavandi ◽  
Maryam Shamspour ◽  
Neda Ashayeri ◽  
Milad Ahmadi Marzaleh

Factor VII deficiency is a rare congenital coagulopathy disorder. In most cases, this disorder is diagnosed in childhood. Common symptoms of congenital factor VII deficiency are different and consist of cutaneous, mucosal hemorrhage, gastrointestinal bleeding, and joint bleeding. CNS hemorrhage is a fatal and severe complication of congenital factor VII deficiency. The incidence of gross hematuria is a rare symptom of factor VII deficiency. Isolated presentation of hematuria is rarer and usually is accompanied by bleeding in other sites. The patient reported here is a 6-month-old girl who was diagnosed with congenital Factor VII deficiency following episodes of isolated gross hematuria. We decided to report this case to demonstrate if there is no other organic cause in the investigation of a child with recurrent hematuria, we should also consider a coagulation factors deficiency. Since isolated hematuria is a rare symptom in the coagulation factors deficiency, the coagulation tests may be of less interest.

Author(s):  
Housam AL Madani ◽  
Soltan Hassan ◽  
Ghada Ajwa ◽  
Basel Dahlawi

Background: Factor VII deficiency is rare inherited bleeding disorders, have been identified in the Factor VII gene located on chromosome 13 with very few cases reported. Factor VII deficiency was first described by Alexander et al. in 1951.The disorder has also been known as Alexander's disease. It is the rare inherited bleeding disorders’ with an estimated incidence of 1 case per 3,00,000 to 5,00,000 individuals. Objective and method: We did a case report and literature review for deficiency of coagulation factors VII was found in a 4 years patient who had chromosomal aberration 13q deletion syndrome (46, XX, del 13q32-13q33). This loci involved in synthesis or constitution of factor VII. Results: A review of the gene map of chromosome 13 indicated that Factors VII and X are coded on the long arm of chromosome 13, within the deleted region. Conclusion: Congenital Factor VII deficiency is a rare cause of bleeding disorder, which should be suspected in a bleeding child presenting in infancy when platelets and aPTT are normal with abnormal PT. Congenital Factor VII deficiency association with 46, XX, del (13q32– 13q33) syndrome is very rare disorder and further cases should be reported to know the outcome and the risk of complication in such a cases.


2021 ◽  
Vol 9 (1) ◽  
pp. 1-3
Author(s):  
Housam AL Madani ◽  
Soltan Hassan ◽  
Ghada Ajwa, ◽  
Basel Dahlawi

Background: Factor VII deficiency is rare inherited bleeding disorders, have been identified in the Factor VII gene located on chromosome 13 with very few cases reported. Factor VII deficiency was first described by Alexander et al. in 1951.The disorder has also been known as Alexander's disease. It is the rare inherited bleeding disorders’ with an estimated incidence of 1 case per 3,00,000 to 5,00,000 individuals. Objective and method: We did a case report and literature review for deficiency of coagulation factors VII was found in a 4 years patient who had chromosomal aberration 13q deletion syndrome (46, XX, del 13q32-13q33). This loci involved in synthesis or constitution of factor VII. Results: A review of the gene map of chromosome 13 indicated that Factors VII and X are coded on the long arm of chromosome 13, within the deleted region. Conclusion: Congenital Factor VII deficiency is a rare cause of bleeding disorder, which should be suspected in a bleeding child presenting in infancy when platelets and aPTT are normal with abnormal PT. Congenital Factor VII deficiency association with 46, XX, del (13q32– 13q33) syndrome is very rare disorder and further cases should be reported to know the outcome and the risk of complication in such a cases.


2019 ◽  
Vol 30 (5) ◽  
pp. 1171
Author(s):  
Sudhir Mehta ◽  
Suman Sethi ◽  
Nitin Sethi ◽  
Vikas Makkar ◽  
Simran Kaur ◽  
...  

2021 ◽  
Vol 9 (21) ◽  
pp. 6091-6101
Author(s):  
Ying Yang ◽  
Ya-Chang Zeng ◽  
Pingkan Rumende ◽  
Chen-Guang Wang ◽  
Yue Chen

2021 ◽  
Vol 35 (3) ◽  
pp. 0-0
Author(s):  
Seçkin Soğucak ◽  
cihan agalar ◽  
Tufan Egeli ◽  
inan YILMAZ ◽  
Serkan Güven ◽  
...  

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