Acquired FVII Deficiency and Acute Myeloid Leukemia: A Case Report and Literature Review

Hammami, Emna; Borgi, W. El; Lakhal, Fatma Ben; Salem, Sarra Fekih; Neji, Hend Ben; Gouider, Emna

doi:10.1093/labmed/lmab120

Cited by 3 publications

(3 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Acquired FVII deficiency was also associated with neoplastic disorders such as pleural liposarcoma, Wilms tumor, atrial myxoma and some hematological tumors, including multiple myeloma, acute myeloid leukemia and lymphoma. Nevertheless, these conditions were mostly linked to the presence of inhibitors [ 13 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ].…”

Section: Discussionmentioning

confidence: 99%

Factor VII Deficiency in Systemic Mastocytosis with an Associated Myeloid Neoplasm

Rosati,

Camerlo,

Fornari

et al. 2024

Hematology Reports

View full text Add to dashboard Cite

Factor VII (FVII) deficiency is a rare bleeding disorder that can be classified as congenital or acquired, and the majority of acquired cases are due to vitamin K deficiency or liver disease. Isolated acquired FVII deficiency is a rare occurrence and has been associated with inhibitors or auto-antibodies. Here, we describe a patient with polycythemia vera who developed systemic mastocytosis and FVII deficiency simultaneously. FVII deficiency was not caused by inhibitors and improved with antineoplastic treatment. Acquired FVII deficiency has been reported in cases of sepsis, possibly due to proteolytic degradation induced by the activation of monocytes or endothelial cells. Malignancies have been shown to cause a depletion in circulating FVII through the direct binding of cancer cells. This case report suggests a potential association between SM associated with a hematological neoplasm (SM-AHN) and acquired FVII deficiency. Further evaluations are recommended in patients with systemic mastocytosis to gain a better understanding of the relationship between pathological mast cells and clotting factor concentrations.

show abstract

Section: Discussionmentioning

confidence: 99%

Factor VII Deficiency in Systemic Mastocytosis with an Associated Myeloid Neoplasm

Rosati,

Camerlo,

Fornari

et al. 2024

Hematology Reports

View full text Add to dashboard Cite

show abstract

“…Congenital FVII deficiency (OMIM 227500) is the most common rare congenital coagulation disorder (RICD) (56); it has autosomal recessive inheritance and is often associated with consanguineous marriage. Heterozygous individuals have approximately 50% of normal coagulation factor levels and usually lack clinical symptoms, but this is not always the case, and occasionally, a heterozygote may have significant bleeding events.…”

Section: Fvii Deficiencymentioning

confidence: 99%

“…Acquired FVII deficiency may also occur due to bone marrow transplantation and bacteremia. Clinical manifestations of acquired FVII deficiency are usually mild to moderate, which may become relevant in the case of surgery (56,(65)(66)(67).…”

Section: Asymptomatic Casesmentioning

confidence: 99%

Coagulation Factor VII: Genetic, Molecular, and Clinical Characteristics

Mashayekhi

Ghasemi

2022

Trends in Med Sci

View full text Add to dashboard Cite

: Coagulation factor VII (FVII) is a vitamin K-dependent serine protease that plays a pivotal role in normal hemostasis. Mature FVII is a glycoprotein comprised γ-carboxyglutamic acid-rich (Gla) domain, two epidermal growth factor (EGF)-like domains, an activation domain, and a serine protease domain. FVII requires proteolytic activation followed by tissue factor (TF) binding for maximal activity. The F7 gene (14.8 kb) is located on 13q34, composed of nine exons and eight introns. The congenital FVII deficiency is a rare coagulopathy with an autosomal recessive pattern of inheritance that occurs due to mutation in the F7 gene. A considerable number of mutations of different types have been identified throughout this gene affecting the expression, structure, and post-translational alterations of the protein. FVII deficiency is the most frequently recessively inherited bleeding disorder. Subjects with FVII deficiency show a wide range of symptoms, including cutaneous hemorrhage, mucosal hemorrhage, gastrointestinal bleeding, joint bleeding, and central nervous system (CNS) hemorrhage. Unlike other coagulation factor deficiencies, serum levels of FVII do not demonstrate the severity of the disease, and there is no direct correlation between serum levels and clinical complications. Replacement therapy is the treatment of choice for FVII deficiency. Various therapeutic products such as prothrombin complex concentrate, plasma-derived FVII concentrate, fresh frozen plasma, and activated recombinant FVII are available to treat FVII deficient individuals. This review aims to provide information on molecular, biochemical, and clinical aspects of coagulation FVII, its role in hemostasis, and the consequences of its deficiency.

show abstract

A Rare Case of an Acquired Isolated Factor VII Deficiency was Discovered in a 23-Year-Old Female Patient

Zahra,

Sassi,

Ben Yahia

et al. 2023

J Hematol Clin Res

View full text Add to dashboard Cite

Introduction: Factor VII (FVII) deficiency, a rare bleeding disorder, can manifest as an autosomal recessive congenital or an acquired coagulopathy. Acquired FVII deficiency, although infrequently reported, presents unique challenges in understanding its mechanisms and identifying underlying causes. Case presentation: We present a case of acquired FVII deficiency discovered in a 23-year-old female patient with no apparent underlying disease. The patient exhibited spontaneous ecchymosis and gingival hemorrhage, along with low FVII activity and isolated prolongation of prothrombin time. Extensive laboratory investigations excluded liver dysfunction, familial deficiency, vitamin K deficiency, and inhibitory antibodies. Prompt treatment with Fresh Frozen Plasma (FFP) and bypassing agents resulted in a favorable response and resolution of hematomas. Conclusion: Acquired FVII deficiency was identified with bleeding symptoms in association with prolonged prothrombin time and a low level of FVII activity. In literature, this deficiency has been associated with various conditions such as sepsis, aplastic anemia, stem cell transplantation, and neoplasms, although approximately 14% of cases remain idiopathic. Clinical outcomes remain generally poor, with limited complete remissions reported.

show abstract

Acquired FVII Deficiency and Acute Myeloid Leukemia: A Case Report and Literature Review

Cited by 3 publications

References 12 publications

Factor VII Deficiency in Systemic Mastocytosis with an Associated Myeloid Neoplasm

Factor VII Deficiency in Systemic Mastocytosis with an Associated Myeloid Neoplasm

Coagulation Factor VII: Genetic, Molecular, and Clinical Characteristics

A Rare Case of an Acquired Isolated Factor VII Deficiency was Discovered in a 23-Year-Old Female Patient

Contact Info

Product

Resources

About