Case Report

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

Abstract

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.

1. Roberts SR, Escobar MA. Less common congenital disorders of hemostasis. In: kitchens CS, Alving BM, Kessler CM, eds. Cumulative Haemostasis and Thrombosis. Philadelphia: w. B. Saunders Company; 2002.
2. Ettarfaoui M, Ghissassi SE, Barkat A. Congenital factor VII deficiency revealed by post-circumcision bleeding. Pan Afr Med J 2019;33:212.
3. Shahbazi S, Mahdian R. Factor VII Gene Defects: Review of Functional Studies Their Clinical Implications. Iran Biomed J 2019;23:165-74.
4. Mariani G, Dolce A, Marchetti G, Bernardi F. Clinical picture and management of congenital factor VII deficiency. Hemophilia 2004:10:180-3.
5. Ingerslev J, Kristensen HL. Clinical picture and treatment strategies in factor VII deficiency. Haemophilia 1998:4:689-96.
6. Sevenet PO, Kaczor DA, Depasse F. Factor VII deficiency: from basics to clinical laboratory diagnosis and patient management. Clin Appl Thromb Hemost 2017;23:703-10.
7. Di Minno MN, Dolce A, Mariani G; STER StudyGroup: Bleeding symptoms at disease presentation and prediction of ensuing bleeding in inherited FVII deficiency. Thromb Haemost 2013;109:1051-9.
8. Herrmann FH, Wulff K, Auerswald G Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. Haemophilia 2009;15:267-80.
9. Sethi S, Mehta S, Sethi N. Congenital factor VII deficiency presenting first time as isolated recurrent hematuria at late age. Saudi J Kidney Dis Transpl 2019;30:1171-4.
10. Kader S, Mutlu M, Acar FA, Aslan Y, Bahadir A. Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate. Blood coagul Fibriholysis 2018;29:476-80.
11. Stieltjes N, Calvez T, Demiguel V, Torchet MF, Briquel ME, Fressinaud E, et al. French ICH Study Group. Intracranial haemorrhages in French haemophilia patients (1991–2001): clinical presentation, management and prognosis factors for death. Haemophilia 2005;11:452-8.
12. Peyvandi F, Palla R, Menegatti M, Siboni SM. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Dis-orders. J Thromb Haemost 2012;10:615-21.
13. Alexander B, Goldstein R, Landwehr G, Cook CD. Congenital SPCA deficiency: Ahitherto unrecognized coagulation defect with hemorrhage rectified by serum and serum fractions. J Clin Invest 1951:30:596-608.
14. Sanghvi JP, Muranjan MN, Bavdekar SB, Parmar RC. Congenital factor VII deficiency. Indian J Pediatr 2004:71:441-3.
15. Cooper DN, Millar DS, Wacey A, Banner DW, Tuddenham EG. Inherited factor VII deficiency: Molecular genetics and pathophysiology. Thromb Haemost 1997;78:151-60.
16. Mariani G, Lo Coco L, Bernardi F, Pinotti M. Molecular and clinical aspects of factor VII deficiency. Blood Coagul Fibrinolysis 1998:9:S83-8.
17. Mariani G, Testa MG, Di Paolantonio τ, Molskov Bech R, Hedner U. Use of recorn binant, activated factor VII in the treatment of congenital factor VII deficiencies. Vox Sang 1999:77:131-6.
18. Ragni MV, Lewis JH, Spero JA, Hasiba U. Factor VII deficiency. Am J Hematol 1981:10:79-88.
Files
IssueVol 59, No 6 (2021) QRcode
SectionCase Report(s)
DOI https://doi.org/10.18502/acta.v59i6.6897
Keywords
Hematuria Congenital factor VII Children Coagulation factors

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How to Cite
1.
Ansary Damavandi S, Shamspour M, Ashayery N, Ahmadi Marzaleh M. Congenital Factor VII Deficiency Presenting With Isolated Recurrent Hematuria: A Case Report. Acta Med Iran. 2021;59(6):383-385.