Abstract Number: PB1191
Meeting: ISTH 2020 Congress
Background: Combined factor deficiencies are very rare among the rare autosomal recessive bleeding disorder with an incidence of 1/1000000. These include Combined factor V & VIII and Vitamin K dependent clotting factors deficiency (VKCFD). Clinical presentation ranges from mild to severe as compared to single factor deficiency.
Aims: The objective of study is to determine the frequency of combined factor deficiencies in paediatric population and their phenotypic presentation.
Methods: It was a cross sectional study carried out in the Coagulation division of Haematology & Transfusion Medicine at the Children’s Hospital Lahore from Jan 2013 to Dec 2019. All patients suspected of clotting factor deficiencies aged 0 to 18 years were included. After the initial coagulation screening, specific Factor assays were carried out by using Stago (France) factor deficient plasmas. Other rare bleeding disorders and vWD Patients were excluded from further study on the basis factor assays results.Cases with Combined factor deficiencies were further investigated. Data analysis was done on software Statistical package for Social science (SPSS) version 26. Continuous variable like age were presented as mean ± standard deviations.
Results: Out of total 350 patients of suspected clotting factor deficiencies Rare bleeding disorders cases were 42 (12%). Combined factors deficiency cases among Rare bleeding disorders were 6 (14.2%). Combined factor V & VIII cases were 2 (33.3%) and VKCFD cases were 4 (66.6%). Males to female ratio was 5:1. All six patients were less than 4 years of age . Most common symptom was bruising present in all 6 (100%) cases, CNS bleed was in 2 (33.3%) cases , Umbilical stump bleed in 2 (33.3%) , post-circumcision bleed was in 3 (50%), hemarthrosis was present in 2 (33.3%) .
Conclusions: Combined factor deficiencies are rare and improved diagnostic facilities can help in finding more cases and their timely management.
To cite this abstract in AMA style:Fateen T, Mazhar N, Saqlain N, Ahmed N. Combined Factor Deficiencies Rare among the Rare Bleeding Disorders among Pediatric Population, Seven Years Experience in a Tertiary Care Center of Lahore, Pakistan [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/combined-factor-deficiencies-rare-among-the-rare-bleeding-disorders-among-pediatric-population-seven-years-experience-in-a-tertiary-care-center-of-lahore-pakistan/. Accessed October 1, 2023.
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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/combined-factor-deficiencies-rare-among-the-rare-bleeding-disorders-among-pediatric-population-seven-years-experience-in-a-tertiary-care-center-of-lahore-pakistan/