Abstract Number: PB0718
Meeting: ISTH 2021 Congress
Background: FMCFDs are characterised by the presence of more than one coagulation factor deficiency arising from a genetic defect or defects and transmissible as a familial trait. The three subgroups of disorders include FMCFDs arising from: (i) co-inherited single coagulation factor deficiencies (ii) a single genetic defect (iii) cytogenetic abnormalities. F5F8D is one of the most common FMCFDs caused by mutations in either the LMAN1 or MCFD2 genes responsible for the transportation of FV and FVIII from the ER to the Golgi for post-translational modification and secretion into the circulation.
Aims: To describe a case of F5F8D in a child that was not initially diagnosed at presentation of bleeding.
Methods: A 3-year-old girl requiring treatment for post-operative infection and debridement presented with intermittent bleeding. She had recently required sutures from a lower lip bleed caused by a fall and previously had an upper lip injury which bled for three days. The initial PT and APTT were markedly prolonged. IV vitamin K was administered with slight improvement in APTT only. She received Prothrombinex® with slight improvement in PT and normalised APTT. NovoSeven® was given to cease bleeding prior to discharge. Two weeks later the PT and APTT were consistently markedly prolonged.
Results: Initial PT and APTT suggested common pathway factor deficiency hence vitamin K administration. PT and APTT mixing studies corrected immediately and after 2 hours incubation at 37°C excluding an inhibitor. Factor assays revealed deficient levels of FV and FVIII explaining the ineffective response of vitamin K and Prothrombinex®. Repeat analysis confirmed FV and FVIII deficiencies. Patients present with prolonged bleeding following trauma or surgery. Bleeding episodes are treated on demand with DDAVP, FVIII concentrates and FFP.
Conclusions: Here reported was the detection of F5F8D in a child who presented with bleeding following trauma and prolonged PT and APTT.
To cite this abstract in AMA style:Rigano J. Familial Multiple Coagulation Factor Deficiencies (FMCFDs); A Rare Case of Combined Deficiency of Factor V and Factor VIII (F5F8D) [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/familial-multiple-coagulation-factor-deficiencies-fmcfds-a-rare-case-of-combined-deficiency-of-factor-v-and-factor-viii-f5f8d/. Accessed November 29, 2021.
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