title: Congenital Factor VII Deficiency in Children at Tertiary Health Care Facility in Pakistan.
abstract: This study presents the demographics, clinical spectrum, and outcome of patients with congenital factor VII (FVII) deficiency at a tertiary care center over a period of 12 years. Of the 49 patients, 27 (55%) patients were males. Consanguinity was found in 92% of the patients. The median age of symptom onset was 2.4 (interquartile range [IQR]: 1.1-6.5) years with a median age of 5.8 (IQR: 3.1-10) years at diagnosis. Life-threatening complications like intracranial bleeding (ICB) and intra-abdominal bleeding (IAB) were observed in 8 (16.4%) patients. We found that 11 (55%) of the 20 patients with FVII coagulant activity (FVIIc) <1% were either asymptomatic or showed mild phenotype. In contrast, 9 (53%) of the 17 patients with FVIIc >5% were affected by severe symptoms. Age <1 year was the only identified risk factor associated with development of life-threatening bleeding episodes (P = .042; odds ratio 6.46). Overall, 4 (8.2%) died as a consequence of ICB (3 patients) and IAB (1 patient).
authors: Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan matloob.alam@aku.edu dr.matloobalam@yahoo.com.
authors: Muhammad Matloob
authors: MM
authors: Alam
authors: Department of Pathology and Microbiology, Aga Khan University, Karachi, Pakistan.
authors: Bushra
authors: B
authors: Moiz
authors: Medical College, Aga Khan University, Karachi, Pakistan.
authors: Karim Abdur
authors: KA
authors: Rehman
authors: Medical College, Aga Khan University, Karachi, Pakistan.
authors: Priyanka
authors: P
authors: Jethwani
authors: Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.
authors: Zehra
authors: Z
authors: Fadoo
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005168:Factor VII Deficiency / Q000097:blood / Q000188:drug therapy / Q000401:mortality; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000097:blood / Q000188:drug therapy / Q000401:mortality; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000097:blood / Q000188:drug therapy / Q000401:mortality; D008297:Male; D012189:Retrospective Studies; D012737:Sex Factors; D063128:Tertiary Health Care
keywords: bleeding disorder; children; consanguinity; factor VII deficiency; intracranial bleeding