Factor VII deficiency – an enigma; clinicohematological profile in 12 cases

Abstract

Inherited factor VII deficiency is the commonest autosomally inherited factor deficiency with marked variation in the age of presentation and clinical symptoms. The laboratory results in form of PT and factor VII levels do not correlate with the severity of clinical presentation. A comprehensive evaluation to exclude acquired causes of factor VII deficiency, e.g. obesity, liver diseases, vitamin K deficiency and acquired inhibitors is required before labeling it as inherited in the absence of family history and molecular studies.

Intracranial bleeding following soccer‐related head trauma in a young student with occult factor VII deficiency

“…However, a small proportion of inherited bleeding disorders may remain occult and undiagnosed until later in childhood when investigations into excessive bleeding episode in diverse clinical settings are triggered. 1 Fc VII deficiency is estimated to affect 1 in 300 000 to 1 in 500 000 people. 2 In our patient, the diagnosis of factor VII deficiency was made following emergent pre-operative workup of soccer-related head trauma, a risk associated with a fast growing sport in schools and communities.…”

“…A diagnosis of inherited bleeding disorder is typically made early in childhood from bleeding symptoms and a positive family history. However, a small proportion of inherited bleeding disorders may remain occult and undiagnosed until later in childhood when investigations into excessive bleeding episode in diverse clinical settings are triggered 1 . Fc VII deficiency is estimated to affect 1 in 300 000 to 1 in 500 000 people 2…”

Factor VII Gene Defects: Review of Functional Studies and Their Clinical Implications

“…Bleeding can also occur spontaneously in the mouth, the nose, the genitals, and urinary tract [26] . Furthermore, the affected women often suffer from severe menorrhagia [29] . In sum, FVII deficiency is a rare bleeding disorder with variable clinical symptoms [28][29][30][31][32][33][34][35][36][37] .…”

“…Furthermore, the affected women often suffer from severe menorrhagia [29] . In sum, FVII deficiency is a rare bleeding disorder with variable clinical symptoms [28][29][30][31][32][33][34][35][36][37] . However, in many cases, there is no direct correlation between the factor plasma levels and the severity of the disease symptoms [28][29][30]32,38] .…”

Acute Myelogenous Leukemia With Trisomy 8 and Concomitant Acquired Factor VII Deficiency

“…1 Acquired factor VII deficiency has been reported in 31 cases and has been described associated with malignancy, infections, sepsis, postoperatively, aplastic anemia, amyloidosis, autoantibodies to factor VII, and in association with bone marrow transplantation. 2-8 There are only 2 prior reported cases of acquired factor VII deficiency in association with AML described in the literature. 2,3 We report the third case of AML associated with acquired factor VII deficiency and the second case of AML associated with trisomy 8 cytogenetic abnormality.…”