A novel factor XI gene mutation associated with mild factor XI deficiency in a symptomatic patient.

Congenital factor XI deficiency is a rare condition, in which plasma factor XI levels correlate poorly with the severity of haemorrhage. The condition is typically characterized by post-traumatic bleeding. The factor XI gene is located on chromosome 4 and contains 15 exons. More than 80 mutations have so far been described. We describe a novel mutation in the factor XI gene associated with mild factor XI deficiency. The patient, who is of Irish descent, has a history of post-traumatic bleeding and was found to have a borderline factor XI deficiency. DNA sequence analysis of the factor XI gene revealed a novel T to A mutation at nucleotide 168 resulting in the substitution of the cysteine residue at codon 38 with a stop codon (Cys38STOP). The mutation predicts the premature termination of translation of factor XI mRNA resulting in a truncated, and probably unstable, factor XI protein. The presence of the mutation is consistent with the patient's borderline factor XI deficiency.

Surgeon and haematologist: a review of comprehensive care for patients with inherited bleeding disorders in Northern Ireland.

BACKGROUND: Management of patients with inherited bleeding disorders has improved since the introduction of Comprehensive Care Centres (CCC) in the United Kingdom (UK). In the event such patients need surgery, the aim of the multidisciplinary team is to facilitate outcomes as good as what would be expected in a non-bleeding disorder patient. A review of such comprehensive care was carried out in patients with inherited bleeding disorders when they needed surgery at Northern Ireland CCC. Aims of the study were to evaluate surgical morbidity and mortality in these patients. METHODS: All patients with inherited bleeding disorders who underwent non-orthopaedic surgery between 2008 and 2012 were identified from the CCC records within the Belfast Health and Social Care Trust (BHSCT) in Northern Ireland (NI) and their case records reviewed. RESULTS: 28 patients received elective and emergency surgery during this period. There was minimum morbidity and no mortality in this cohort. CONCLUSIONS: Surgery in patients with inherited bleeding disorders has become safe with the advent of multidisciplinary CCCs. Close communication between surgeon and haematologist is key in the successful management of these complex patients.

Acute intestinal obstruction due to intramural haemorrhage in small intestine in a patient with severe haemophilia A and inhibitor.

Patients with severe haemophilia A usually present with joint, gastrointestinal and urinary tract haemorrhage. Bleeding elsewhere is often precipitated by pre-existing pathology or trauma. We report a patient with severe haemophilia A, who presented with symptoms of acute intestinal obstruction. He has a factor VIII inhibitor and receives recombinant factor VIIa on demand at home. The CT scan of abdomen showed dilated small intestine with fluid filled loops and a long segment in the jejunum with marked transmural thickening. There was no other pathology in the small intestine. These appearances were consistent with intramural haemorrhage in the small intestine as the cause of acute obstruction. He was managed conservatively with recombinant factor VIIa and this resulted in resolution of his symptoms. This case highlights an unusual presentation of bleeding in a haemophilia patient. Intestinal obstruction due to haemorrhage in the small intestinal wall is extremely rare and only previously reported in a few haemophilia patients. It also highlights the effectiveness of conservative management with recombinant factor VIIa as opposed to immediate exploratory surgery.