Studija slučaja
https://doi.org/10.3325/cmj.2020.61.62
Congenital factor XI deficiency caused by a novel F11 missense variant: a case report
Kristina Gotovac Jerčić
; Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia
Antonela Blažeković
; Department of Anatomy, University of Zagreb School of Medicine, Zagreb, Croatia
Mirea Hančević
; Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia
Ervina Bilić
; Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia
Fran Borovečki
; Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia
Sažetak
Hereditary factor XI (FXI) deficiency is a mild bleeding disorder, rare in the general population but relatively common among Ashkenazi Jews. The human F11 gene comprises 15 exons, spanning over 23 kb of the long arm of
chromosome 4 (4q35). Homozygotes or compound heterozygotes typically show severe FXI deficiency, whereas
heterozygotes show partial or mild deficiency. However,
the genotype-phenotype relationship is difficult to establish, even among individuals within the same family. We
report on a female patient with a heterozygous variant in
F11 and FXI deficiency (49 IU/dL), who suffers from menorrhagia since menarche and easy bruising. She experienced
excessive bleeding during thyroidectomy and after a cesarean section. Her younger sister, who carries the same
heterozygous variant in F11 and has mild FXI deficiency
(47 IU/dL), has menorrhagia without other bleeding difficulties although she has undergone several surgeries. Their
father, who carries the same missense variant, has not experienced any bleeding difficulties (but he has not undergone any surgeries either). The family study revealed that
the A428C mutation was inherited from the father. This
variant has not previously been described in the literature
and is the first F11 variant described in the Croatian population. Our study showed that even when family members
have the same germline F11 variant, they still may experience phenotypic variability, making disease prognosis
more complex.
Ključne riječi
Hrčak ID:
278016
URI
Datum izdavanja:
24.12.2020.
Posjeta: 351 *