Factor VII Deficiency and Pregnancy: A Case Report and Review of Literature

Abstract Inherited factor VII deficiency is an autosomal recessive coagulation disorder with broad range of bleeding manifestations. The association between bleeding and absolute factor VII level is poor. Usually, the bleeding is associated with FVII levels of less than 1% of the normal value. Factor VII deficiency is associated with prolongation of prothrombin time only with normal activated partial thromboplastin time. Approximately 66 pregnant women have been reported with factor VII deficiency so far in English literature. We hereby, report 2 cases along with the review of literature of Factor VII deficiency during pregnancy. Our patients were diagnosed to have factor VII deficiency after deranged coagulogram with factor VII level of < 1% and 17.1% respectively, however could be managed by fresh frozen plasma only in first case and fresh frozen plasma & factor VII concentrate in second case successfully. Coagulogram is a simple, easily available, affordable and lifesaving investigation to detect this deficiency in pregnancy.

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MENORRHAGIA;

The Professional Medical Journal ◽

10.29309/tpmj/2013.20.05.1217 ◽

2013 ◽

Vol 20 (05) ◽

pp. 846-848

Author(s):

FARZANA ZIA ◽

SHAHZEEM BHAYANI ◽

RUBINA HUSSAIN

Keyword(s):

Autosomal Recessive ◽

Past History ◽

Fresh Frozen Plasma ◽

Factor Vii ◽

Severe Anemia ◽

Factor Vii Deficiency ◽

Fresh Frozen ◽

Life Threatening ◽

Frozen Plasma

Factor VII deficiency is a rare, autosomal recessive coagulopathy that becomes symptomatic in the form of a hemorrhagicsyndrome characterized by severe life threatening bleeding. This may present in young women as severe anemia due to bleeding pervaginum. We report one such case of a 12 year old girl who presented at the gynecology outpatient department with complaints of severemenorrhagia at menarche. Her past history was consistent with episodes of profuse epistaxis and bleeding from gums. Her completeblood count showed severe anemia. Upon further investigation her prothrombin time was prolonged but her APTT was normal which wasindicative of Factor VII deficiency and was confirmed by serum assays of Factor VII. It is important to diagnose this disorder earlier in orderto avoid long term complications especially in women who may suffer from severe life threatening hemorrhage during menses orrecurrent miscarriages during pregnancy. Therefore, our patient was transfused with packed cells and fresh frozen plasma immediatelyand started on low dose oestrogen and progesterone pill along with tranexemic acid to control her symptoms.

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Homozygous 2bp Deletion in the Human Factor VII Gene: A Non-Lethal Mutation that Is Associated with a Complete Absence of Circulating Factor VII

Thrombosis and Haemostasis ◽

10.1055/s-0037-1614079 ◽

2000 ◽

Vol 84 (10) ◽

pp. 635-637 ◽

Cited By ~ 3

Author(s):

Pier Mannucci ◽

P. Jenkins ◽

Anselm Lee ◽

Raffaella Coppola ◽

David Perry ◽

...

Keyword(s):

Human Factor ◽

Fresh Frozen Plasma ◽

Factor Vii ◽

Causative Mutation ◽

Direct Sequence ◽

Factor Vii Deficiency ◽

Plasma Factor ◽

Fresh Frozen ◽

Direct Sequence Analysis ◽

Frozen Plasma

SummaryWe report the case of a 5-year-old boy with severe factor VII deficiency. The affected child presented at the age of 8 months and again at 18 months with bleeding from the gastrointestinal tract but the diagnosis of factor VII deficiency was not made until the age of 3 years. He was treated with fresh frozen plasma and subsequently factor VII concentrates and to date remains well. To identify the causative mutation, the factor VII gene was screened by SSCP and direct sequence analysis. A single homozygous 2bp deletion (-CT) mutation was identified in exon 1a removing nucleotides 27/28 (codons 52/53). Both parents, who were first cousins, were heterozygous for the mutation. The mutation located in the prepropeptide of factor VII, results in a complete absence of factor VII in plasma. This case indicates that a complete absence of plasma factor VII is not necessarily a lethal condition.

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Factor V11 deficiency: A rare cause of nasal bleeding

Journal of Clinical Images and Medical Case Reports ◽

10.52768/2766-7820/1207 ◽

2021 ◽

Vol 2 (3) ◽

Author(s):

Georgina G Balyorugulu ◽

◽

Richard F Kiritta ◽

Emmanuela Ambrose ◽

Erius Tebuka ◽

...

Keyword(s):

Blood Transfusion ◽

Prothrombin Time ◽

Fresh Frozen Plasma ◽

Activated Partial Thromboplastin Time ◽

Factor Vii ◽

Factor Vii Deficiency ◽

Fresh Frozen ◽

Nasal Bleeding ◽

Frozen Plasma ◽

Functional Factor

Factor VII deficiency is a rare inherited disorder. Clinically the patient presents with bleeding tendencies. Diagnosis is made by prolonged prothrombin time, normal activated partial thromboplastin time and low functions factor VII assay or factor VII antigen. Therapy involves factor VII concentrates, recombinant factor VII, fresh frozen plasma and fibrinolytic inhibitors. We present a 6 years old boy with nose bleed for six months of whom prothrombin time was prolonged with functional factor VII assay of less than 1% confirming factor VII deficiency. He was managed with fresh frozen plasma, blood transfusion, tranexamic acid. Factor VII deficiency even though rare should be sought out in children presenting with bleeding. Keywords: Factor VII deficiency; coagulation; hemorrhage.

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An Atypical Case of Shiga Toxin Producing-Escherichia Coli Hemolytic and Uremic Syndrome (STEC-HUS) in a Lung Transplant Recipient

Case Reports in Transplantation ◽

10.1155/2019/9465040 ◽

2019 ◽

Vol 2019 ◽

pp. 1-3

Author(s):

Louis Manière ◽

Camille Domenger ◽

Boubou Camara ◽

Diane Giovannini ◽

Paolo Malvezzi ◽

...

Keyword(s):

Escherichia Coli ◽

Kidney Function ◽

Shiga Toxin ◽

Lactate Dehydrogenase Level ◽

Fresh Frozen Plasma ◽

First Case ◽

Maintenance Immunosuppression ◽

Fresh Frozen ◽

Uremic Syndrome ◽

Frozen Plasma

We herein describe the first case of thrombotic microangiopathy (TMA) which was related to Shiga toxin producing-Escherichia Coli Hemolytic and Uremic Syndrome (STEC-HUS) after lung transplantation. His maintenance immunosuppression relied on tacrolimus plus mycophenolic acid. TMA was treated with plasma exchanges (PE) (fresh frozen plasma substitution). After five days of PE, platelets count and lactate dehydrogenase level normalized, whereas hemoglobin continued to gradually decrease and no improvement in kidney function was observed. After seven PE sessions, all TMA biological signs resolved. However, kidney function did not improve, and the patient still required chronic dialysis.

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Preparation of a Factor VII Concentrate

10.1055/s-0039-1684639 ◽

1979 ◽

Author(s):

A.J. MacLeod ◽

I. Dickson

Keyword(s):

Specific Activity ◽

Fresh Frozen Plasma ◽

Factor Vii ◽

Batch Adsorption ◽

Citrate Buffer ◽

Linear Gradient ◽

Fresh Frozen ◽

Frozen Plasma ◽

Phosphate Citrate Buffer

A factor VII concentrate has been prepared from pooled citrated fresh frozen plasma following removal of cryoprecipitate and factors II, IX and X. The method involved batch adsorption on DEAE-Sephadex A-50, fractionation of the subsequent batch eluate by PEG precipitation and passage through a column of DEAE-Sepharose CL-.6B. A phosphate-citrate buffer pH 6.9 was used throughout, this was made 0.2M with NaCl for the batch elution and a 0 - 0.2H NaCl linear gradient was used to elute the components from the column. Factor VII activity was clearly resolved from the bulk of the protein, including caeruloplasmin, and could be recovered as a concentrate at about 20 U FVII/ml with a specific activity of in excess of 1 U FVII/mg of protein and an overall recovery of 40% to 50%

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Acquired Factor VII deficiency – a rare but important consideration

Scottish Medical Journal ◽

10.1177/0036933019853167 ◽

2019 ◽

Vol 64 (3) ◽

pp. 119-122

Author(s):

Mehmood Hussain Zaidi ◽

Arran Stanley ◽

Mohammed Khan

Keyword(s):

Case Series ◽

Kidney Injury ◽

Abdominal Sepsis ◽

Factor Vii ◽

Medical Setting ◽

Coagulation Disorder ◽

Factor Vii Deficiency ◽

First Case ◽

Clinical Scenarios ◽

Atypical Haemolytic Uraemic Syndrome

IntroductionIsolated acquired Factor VII deficiency is a rare coagulation disorder which is independent of vitamin K deficiency. The exact pathophysiological basis of this condition is unclear. We present a series of cases highlighting different clinical scenarios where this condition was encountered.Case seriesThe first case presented with intra-abdominal sepsis. The second was a patient admitted with acute kidney injury and subsequently diagnosed with myeloma. The final case presented with microangiopathic haemolytic anaemia and was suspected of having atypical Haemolytic Uraemic Syndrome. In each case, there was no family or personal history of a bleeding disorder. Follow-up Factor VII levels after recovery from illness was normal in all three cases.ConclusionAcquired Factor VII deficiency is an uncommon but important finding which should be considered in the general medical setting when an isolated prolonged prothrombin time is detected.

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Massive Transfusion in Wartime: Experience from Northern Israel, Summer 2006.

Blood ◽

10.1182/blood.v110.11.4017.4017 ◽

2007 ◽

Vol 110 (11) ◽

pp. 4017-4017

Author(s):

Eldad J. Dann ◽

Najib Dally ◽

Judith Chezar ◽

Moshe Michaelson ◽

Mirit Barzelay ◽

...

Keyword(s):

Injury Severity ◽

Massive Transfusion ◽

Secondary Trauma ◽

Fresh Frozen Plasma ◽

Factor Vii ◽

Packed Red Blood Cells ◽

Medical Centers ◽

Fresh Frozen ◽

Level I ◽

Frozen Plasma

Abstract In July 2006 hostilities erupted in Israel/Lebanon. Reported here is the experience of three medical centers in Northern Israel during 33 days of the warfare; the Rambam Health Care Campus in Haifa - a level I trauma center, the Rebecca Sieff Hospital in Safed and the Western Galilee Hospital in Nahariah - both secondary trauma centers. 504, 1138 and 868 wounded were presented to the three medical centers and 281, 415 and 195, respectively, required hospitalization. Sixty, 32 and 15 hospitalized patients were concomitantly transfused in each corresponding center, representing 20%, 7% and 7%, respectively, of admitted patients. Patients with an injury severity score of ≥16 had a higher need for blood products than those less severely injured, with a mean packed red blood cell (PRBC) transfusion of 7 versus 4 units (p=0.03) and FFP transfusion of 13 versus 1.5 units (p=0.002), respectively. Twenty four soldiers and one civilian had massive transfusions and twenty three of these patients survived. The median ratio between transfused fresh frozen plasma (FFP) and packed red blood cells (PRBC) was 0.8, ranging from a ratio of 0.25 to 1.3. Among 25 massively transfused patients 21 received cryoprecipitate and 19 - platelets. The median prothrombin time (INR) and partial thromboplastin time (PTT) increased during the first 2 hours after admission from 1.29 to 1.51 and from 33.6 seconds to 39 seconds, respectively. In the cohort of massively transfused patients 3 individuals additionally received 3 g of tranexamic acid, while another 2 patients were treated with recombinant factor VII. In conclusion, massively transfused patients with wartime penetrating injuries have an ongoing coagulopathy despite vigorous replacement therapy, which needs to be continued until the patients are stabilized. Early intervention and consultation in the Emergency Room by transfusion-service specialists is essential to the overall management of critically and massively wounded patients in wartime. Wounded (hospitalized) Transfused patients Packed RBC units FFP units Cryo units Platelet units Massive transfusion (patients) Rambam 504 (281) 60 463 413 266 258 21 Rebecca Sieff 1138 (415) 32 134 34 50 30 4 Western Galilee 868 (195) 15 71 68 51 10 1

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Acquired factor VII deficiency causing severe bleeding disorder secondary to AL amyloidosis of the liver

Hematology Reports ◽

10.4081/hr.2018.7235 ◽

2018 ◽

Vol 10 (3) ◽

Cited By ~ 2

Author(s):

Anthony L. Nguyen ◽

Muhammad Kamal ◽

Ravi Raghavan ◽

Gayathri Nagaraj

Keyword(s):

Factor Viia ◽

Aminocaproic Acid ◽

Fresh Frozen Plasma ◽

Factor Vii ◽

Al Amyloidosis ◽

Severe Bleeding ◽

Factor Vii Deficiency ◽

Fresh Frozen ◽

Hepatic Amyloidosis ◽

Mucosal Bleeding

A 52 year-old male presented with neck pain after undergoing thyroidectomy for a goiter three weeks prior which was complicated by a neck hematoma requiring evacuation. Computed tomography (CT) scan showed a neck hematoma requiring evacuation and he received desmopressin with cessation of bleeding. Coagulation studies were normal. He returned eighteen months later with severe oral mucosal bleeding after a dental procedure and required transfusions with red blood cells, platelets, and fresh frozen plasma (FFP) in addition to desmopressin, Humate-P, aminocaproic acid, and surgical packing. A comprehensive bleeding diathesis workup was normal. He was readmitted six months later due to abdominal pain and distention and found to have massive hepatosplenomegaly on CT. A new coagulopathy workup revealed prolonged INR to 1.5, corrected prothrombin time mixing study, and a low factor VII level (29%), suggesting acquired factor VII deficiency. A transjugular liver biopsy revealed extensive involvement by ALamyloidosis- Kappa type. He then developed a large right retroperitoneal hematoma which required multiple transfusions with FFP, cryoprecipitate, aminocaproic acid, and vitamin K with slight success. Hemorrhage was subsequently stabilized with recombinant factor VIIa administered every four hours which corresponded with correction of factor VII levels and PT and eventual cessation hemorrhage. Acquired factor VII deficiency causing severe coagulopathy was attributed to hepatic amyloidosis ALkappa subtype. We started treatment with bortezomib, dexamethasone, and cyclophosphamide, however, the patient succumbed to uncontrolled hemorrhage. Acquired factor VII deficiency is extremely rare and to our knowledge, this is the only known case of factor VII deficiency secondary to amyloidosis involving the liver.

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A Still Rare Case of Congenital Afibrinogenemia

Journal of Clinical & Experimental Immunology ◽

10.33140/jcei/03/02/00002 ◽

2018 ◽

Vol 3 (2) ◽

Keyword(s):

Rare Case ◽

Autosomal Recessive ◽

Rare Condition ◽

Preventive Treatment ◽

Fresh Frozen Plasma ◽

Autosomal Recessive Mode ◽

Fibrinogen Concentrate ◽

Fresh Frozen ◽

Congenital Afibrinogenemia ◽

Frozen Plasma

Congenital afibrinogenemia is characterized by the decrease or the absence of fibrinogen synthesis. It is a rare pathology that is transmitted autosomal recessive mode, with variable clinical demonstrations. The biological diagnosis consists in the presence of traces or absence of fibrogen with blood incoagulability. The coverage of this disease bases itself on the preventive treatment and replacement therapy based on fresh frozen plasma or fibrinogen concentrate. Through this case, we recall the various aspects of these rare condition clinical, biological, genetical as well as therapeutic plans.

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