DOUBLE HETEROZYGOTIC FV DEFECT WITH HETEROZYGOTIC FV LEIDEN MUTATION AND FV DEFICIENCY IN THROMBOSIS

Objective: FV Leiden mutation causes activated protein C (APC) resistance and causes an increase in thrombin level. Although moderate bleeding is seen in severe factor V deficiency, less than 1% of patients experience bleeding. Cases in which thrombosis is prominent in the presence FV Leiden mutati...

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Autores principales:	İSMAİL ALTUĞ DEMİR, HATİCE DEMET KİPER ÜNAL, ŞERİFE SOLMAZ, BAHRİYE PAYZIN, TUĞBA ÇETİNTEPE
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Diseases of the blood and blood-forming organs RC633-647.5
Acceso en línea:	https://doaj.org/article/0027cf7be50048b7b123221f2a5e6593
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spelling	oai:doaj.org-article:0027cf7be50048b7b123221f2a5e65932021-11-10T04:35:34ZDOUBLE HETEROZYGOTIC FV DEFECT WITH HETEROZYGOTIC FV LEIDEN MUTATION AND FV DEFICIENCY IN THROMBOSIS2531-137910.1016/j.htct.2021.10.1028https://doaj.org/article/0027cf7be50048b7b123221f2a5e65932021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2531137921011755https://doaj.org/toc/2531-1379Objective: FV Leiden mutation causes activated protein C (APC) resistance and causes an increase in thrombin level. Although moderate bleeding is seen in severe factor V deficiency, less than 1% of patients experience bleeding. Cases in which thrombosis is prominent in the presence FV Leiden mutation and FV deficiency have been reported. Here, we present a patient with FV deficiency with FV Leiden heterozygous mutation in the etiology of recurrent abortion. Case report: A 41-year-old female patient who applied to her primary care physician with bilateral lumbar pain upon finding INR: 1.43 (0.8-1.2) and APTT: 37.6 seconds (25-36.5), the patient was recommended to apply to our out patient clinic. The patient who described two spontaneous abortions (at the age of 25, the first in the 2nd trimester and the other in the 3rd trimester), also had a history of ecchymosis in the extremities caused by minor trauma at intervals. Methodology: PT, INR and APTT returned to normal with the mixing test performed on the patient (12.1 sEC, 1.03 and 28.6 sec, respectively).Afterwards, FV, which is one of the factors in the common pathway of coagulation, was found low in the examination repeated twice (12.3% and 10.2%) (N: 62-139%). The APCR studied twice in screening for thrombophilia was 1.4 and 2.4 (N: 2.61-3.32) Protein C, protein S, antithrombin III levels were within normal limits, LAC and APA were negative. Results: According to this result, FV Leiden heterozygous mutation was detected in the genetic thrombophilia panel. Also the patient had FV deficiency . Conclusion: Authors termed the coexistence of heterozygous FV Leiden mutation and type1 FV deficiency as pseudohomozygous FV Leiden mutation. In our and other studies, we concluded that thrombosis was clinically significant, where as bleeding was rare and mild. We think that prolonged PT and APTT results in patients with a history of thrombosis with FV Leidenmutation are also stimulating in evaluating FV activity.İSMAİL ALTUĞ DEMİRHATİCE DEMET KİPER ÜNALŞERİFE SOLMAZBAHRİYE PAYZINTUĞBA ÇETİNTEPEElsevierarticleDiseases of the blood and blood-forming organsRC633-647.5ENHematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S39-S40 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the blood and blood-forming organs RC633-647.5
spellingShingle	Diseases of the blood and blood-forming organs RC633-647.5 İSMAİL ALTUĞ DEMİR HATİCE DEMET KİPER ÜNAL ŞERİFE SOLMAZ BAHRİYE PAYZIN TUĞBA ÇETİNTEPE DOUBLE HETEROZYGOTIC FV DEFECT WITH HETEROZYGOTIC FV LEIDEN MUTATION AND FV DEFICIENCY IN THROMBOSIS
description	Objective: FV Leiden mutation causes activated protein C (APC) resistance and causes an increase in thrombin level. Although moderate bleeding is seen in severe factor V deficiency, less than 1% of patients experience bleeding. Cases in which thrombosis is prominent in the presence FV Leiden mutation and FV deficiency have been reported. Here, we present a patient with FV deficiency with FV Leiden heterozygous mutation in the etiology of recurrent abortion. Case report: A 41-year-old female patient who applied to her primary care physician with bilateral lumbar pain upon finding INR: 1.43 (0.8-1.2) and APTT: 37.6 seconds (25-36.5), the patient was recommended to apply to our out patient clinic. The patient who described two spontaneous abortions (at the age of 25, the first in the 2nd trimester and the other in the 3rd trimester), also had a history of ecchymosis in the extremities caused by minor trauma at intervals. Methodology: PT, INR and APTT returned to normal with the mixing test performed on the patient (12.1 sEC, 1.03 and 28.6 sec, respectively).Afterwards, FV, which is one of the factors in the common pathway of coagulation, was found low in the examination repeated twice (12.3% and 10.2%) (N: 62-139%). The APCR studied twice in screening for thrombophilia was 1.4 and 2.4 (N: 2.61-3.32) Protein C, protein S, antithrombin III levels were within normal limits, LAC and APA were negative. Results: According to this result, FV Leiden heterozygous mutation was detected in the genetic thrombophilia panel. Also the patient had FV deficiency . Conclusion: Authors termed the coexistence of heterozygous FV Leiden mutation and type1 FV deficiency as pseudohomozygous FV Leiden mutation. In our and other studies, we concluded that thrombosis was clinically significant, where as bleeding was rare and mild. We think that prolonged PT and APTT results in patients with a history of thrombosis with FV Leidenmutation are also stimulating in evaluating FV activity.
format	article
author	İSMAİL ALTUĞ DEMİR HATİCE DEMET KİPER ÜNAL ŞERİFE SOLMAZ BAHRİYE PAYZIN TUĞBA ÇETİNTEPE
author_facet	İSMAİL ALTUĞ DEMİR HATİCE DEMET KİPER ÜNAL ŞERİFE SOLMAZ BAHRİYE PAYZIN TUĞBA ÇETİNTEPE
author_sort	İSMAİL ALTUĞ DEMİR
title	DOUBLE HETEROZYGOTIC FV DEFECT WITH HETEROZYGOTIC FV LEIDEN MUTATION AND FV DEFICIENCY IN THROMBOSIS
title_short	DOUBLE HETEROZYGOTIC FV DEFECT WITH HETEROZYGOTIC FV LEIDEN MUTATION AND FV DEFICIENCY IN THROMBOSIS
title_full	DOUBLE HETEROZYGOTIC FV DEFECT WITH HETEROZYGOTIC FV LEIDEN MUTATION AND FV DEFICIENCY IN THROMBOSIS
title_fullStr	DOUBLE HETEROZYGOTIC FV DEFECT WITH HETEROZYGOTIC FV LEIDEN MUTATION AND FV DEFICIENCY IN THROMBOSIS
title_full_unstemmed	DOUBLE HETEROZYGOTIC FV DEFECT WITH HETEROZYGOTIC FV LEIDEN MUTATION AND FV DEFICIENCY IN THROMBOSIS
title_sort	double heterozygotic fv defect with heterozygotic fv leiden mutation and fv deficiency in thrombosis
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/0027cf7be50048b7b123221f2a5e6593
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DOUBLE HETEROZYGOTIC FV DEFECT WITH HETEROZYGOTIC FV LEIDEN MUTATION AND FV DEFICIENCY IN THROMBOSIS

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