OC 39.4 - Clinical characteristics and management of children with severe factor VII deficiency- analysis of a United Kingdom cohort

Monday, July 11, 2022

11:30 AM – 11:45 AM

Location: ExCel Center, ICC Capital Suite Room 1

Presentation Format: In-Person

Presenting Author(s)

TB

Tina T. Biss, BM BS, MRCP, FRCPath, MD

Consultant Haematologist
The Newcastle upon Tyne Hospitals NHS Foundation Trust
Newcastle upon Tyne, England, United Kingdom

Co-Author(s)

JM

Jayashree Motwani

Hematologist
Department of Paediatric Haematology, Birmingham Children's Hospital, United Kingdom
Birmingham, England, United Kingdom
JG

John Grainger

Consultant Paediatric Haematologist
Royal Manchester Children's Hospital
Manchester, England, United Kingdom
MM

Mary Mathias

Dr
Haemophilia Comprehensive Care Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom
London, England, United Kingdom
SS

Simone Stokley

Consultant Paediatric Haematologist
Nottingham University Hospitals NHS Trust
Nottingham, England, United Kingdom
AK

Anne Kelly

Consultant Paediatric Haematologist
Cambridge University Hospitals NHS Foundation Trust
Cambridge, England, United Kingdom
Jeanette Payne, MD

Consultant Paediatric Haematologist
Sheffield Children's NHS Foundation Trust
Sheffield, England, United Kingdom
JA

Jayanthi Alamelu

Consultant Paediatric Haematologist
Evelina London Children's Hospital
London, England, United Kingdom
SG

Simone Green

Consultant Paediatric Haematologist
Hull University Teaching Hospitals NHS Trust
Hull, England, United Kingdom
EC

Elizabeth Chalmers

Consultant Paediatric Haematologist
Royal Hospital for Children
Glasgow, England, United Kingdom
NB

Neha Bhatnagar

Consultant Paediatric Haematologist
Oxford University Hospitals NHS Foundation Trust
Oxford, England, United Kingdom

Background: Severe factor VII (FVII) deficiency is a rare bleeding disorder. Bleeding phenotype and management in children with severe FVII deficiency is poorly described.

Aims: This retrospective, observational study aimed to characterise bleeding phenotype and management in individuals aged < 18 years with severe FVII deficiency.

Methods: The UK National Haemophilia Database was scrutinised for individuals aged < 18 years with baseline FVII < 0.05 IU/mL. Individual centres were contacted to provide additional data.

Results: 27 individuals were identified, 16 males and 11 females, from 9 centres. Additional data were available for 26 children, aged 3 months-15 years (median age: 10.5 years). FVII was
Genetic mutation was known in 13 children, 10 homozygous and 3 compound heterozygous for mutations most frequently in Exon 8 of the FVII gene.

Bleeding symptoms included: mouth/nose bleeding in 7, menorrhagia(5) (of 6 females aged >10 years), intracranial haemorrhage (ICH, 4), muscle haematoma(2), haemarthrosis(2), cephalohaematoma(1), dental extraction bleeding(1), gastrointestinal bleeding(1), umbilical cord bleeding(1). ICH occurred at birth, day 4 of life, 2 and 6 months of age and none required surgical management. Four individuals had no bleeding symptoms.

Ten receive prophylaxis with FVII concentrate, 9 recombinant and 1 plasma-derived. Prophylaxis was commenced for significant bleeding (4 ICH, 1 muscle haematomata, 1 mucosal bleeding) or for primary prophylaxis (4). Only one commenced prophylaxis after 2 months of age.

Treatment-related complications were reported in two individuals, FVII inhibitor and multiple central venous line-related thromboses.

Conclusion(s): Serious bleeding in severe FVII deficiency, including ICH, occurs early in life. Frequent non-severe bleeding symptoms are mouth/nose bleeding and menorrhagia. More than one third require prophylaxis and this is started early in life.