Recurrent jejunal bleeding due to angiodysplasia in a Bernard–Soulier patient

Abstract

Angiodysplasia of the gastrointestinal tract consists of ectasia of the submucosal vessels of the bowels and may lead to acute or chronic bleeding. The presence of a coagulopathy will increase the frequency and the severity of gastrointestinal bleeding, whether spontaneously or medically. In literature, few cases of Bernard-Soulier syndrome associated with gastrointestinal angiodysplasia have been reported. We hereby present a female patient known to have Bernard-Soulier syndrome presenting with persistent bleeding due to jejunal angiodysplasia, which, to our knowledge, is the eighth reported case in the medical literature. The patient responded to tranexamic acid (antifibrinolytic agent) with gradual reduction in required transfusions until cessation of bleeding.

Von Willebrand factor and angiogenesis: basic and applied issues

“…It is also possible that failure of this mechanism in VWD may contribute to angiodysplasia. Angiodysplastic lesions are not a feature of the major platelet function defects or of thrombocytopenia ; however, angiodysplasia has been reported in patients with Glanzmann thrombasthenia and Bernard‐Soulier syndrome . Detailed reviews of the clinical data possibly associated with vascular malformations in platelet dysfunction would be important.…”

A Case Report of Bernard-Soulier Syndrome in Differential Diagnosis of Immune Thrombocytopenic Purpura.

“…†Originally reported as codon 126. [31] Female [32] 14 years old Male [33] Angiodysplasia + breast cancer + Hepatitis C 48 years old Female [34] Tuberculosis 14 years old Female [35] Hepatitis 42 years old Female [36] Coronary artery disease 68 years old Male [37] Atherosclerosis and unstable angina 66 years old Male [38] Pregnancy Variable Female [39] Aquagenicurticarial 18 years old Male [45] Developmental dysplasia of her left hip (DDH) 40 years old Female [46] Acute myeloid leukemia 21 years old Female [25] Myocardial infarction 60 and 64 years old Male [26] [63] 3233-3236delTGAG Premature termination [64] 3285C>T Leu57Phe [65] 3309T>C Cys65Arg [66] 3343delT Premature termination [67] 3502T>C Leu129Pro [68][69] 3583C>T Ala156Val [70-71-72] 3621-3656del Premature termination [72] 3651-3653delCTC del Leu179 [73] 3741T>A Cys209Ser [74][75] 3998-3999delTG Premature termination [12] 4145G>A Trp343stop [76] 4444insT Premature termination [12-14-75] 4447C>A Ser444stop [13] 4464delA Premature termination [12][13][14] 4591-4592delAt Premature termination [77-78-79] 4610G>A Trp498stop [66][67][68][69][70][71][72][73]…”