ORCID Profile
0000-0002-8320-2884
Current Organisation
Royal Brisbane and Women's Hospital
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Publisher: Wiley
Date: 02-2021
DOI: 10.1111/IMJ.14773
Publisher: Wiley
Date: 19-07-2018
DOI: 10.1111/HAE.13559
Abstract: Persons with haemophilia and other inherited bleeding disorders are prone to disabling joint arthropathy frequently requiring arthroplasty for end-stage joint disease. Higher complication rates and more modest post-operative functional outcomes have previously been described. To evaluate the clinical outcomes and patient satisfaction of persons with inherited bleeding disorders (predominantly haemophilia) undergoing total hip and knee replacement. Retrospective, single-centre cohort study with longitudinal assessment of patients with inherited bleeding disorders who underwent total hip and knee replacement over a 20-year period. Eligible patients were clinically assessed with Harris Hip Score (HHS), Knee Society Score (KSS), pain visual analogue scale (VAS) and a patient satisfaction questionnaire. Thirty-one patients (48 joints) met the inclusion criteria. Mean age at surgery was 49.3 years (SD: 13.1, range 21-75 years) with a mean follow-up of 9.33 years (1.7-19.3). The majority (26/31) of patients had haemophilia A, predominantly severe haemophilia A (22/26). Reported pain levels were low, and patient satisfaction was high. Joint-specific outcome scores were "good" to "excellent" in 67% of total hip replacement patients and 92% of total knee replacement patients. A low complication rate was observed, with 2 patients requiring revision surgery and 4 patients requiring re-operation without implant revision. Arthroplasty is a reliable procedure in patients with inherited bleeding disorders with end-stage hip or knee arthropathy. The overall complexity of this group is highlighted, and the need for multidisciplinary care is emphasised.
Publisher: Wiley
Date: 17-04-2019
DOI: 10.1111/HAE.13755
Publisher: Elsevier BV
Date: 03-2022
DOI: 10.1016/J.IJOM.2021.07.018
Abstract: The bleeding risk in in iduals with inherited bleeding disorders (IBDs) during exodontia is traditionally managed with perioperative coagulation factors and/or desmopressin, in conjunction with systemic and topical perioperative tranexamic acid and meticulous primary closure. Factor replacement is costly, requires specialist input, and carries a risk of developing factor VIII (FVIII) inhibitors. This prospective study was performed to determine whether the use of a standardized Floseal and anti-fibrinolytic protocol could reduce postoperative bleeding in patients with IBDs undergoing dental extraction, as compared to factor replacement. All patients >18 years old attending Queensland Haemophilia Centre between November 2014 and July 2019 who required dental extractions were referred to the Oral and Maxillofacial Unit. Patients were consented for intraoperative Floseal administration instead of factor replacement. All other operative measures remained the same. The bleed rate was assessed against a historical control cohort. There were 34 extraction events in 32 patients. Four of the patients reported postoperative bleeding requiring factor supplementation or desmopressin the bleeding rate was 11.8%. While not statistically significant, this was a reduction in the bleed rate compared to the traditional protocol (P = 0.35). Third molar extractions were 10.33 times more likely to cause postoperative bleeding (P = 0.018). The Floseal protocol was equipotent to the traditional perioperative factor replacement protocol. Floseal use is more economical, eliminates the risk of peri-procedural FVIII inhibitor development, and provides a haemostatic option for patients with very rare factor deficiencies, pre-existing clotting factor inhibitors, and those with anaphylaxis to clotting concentrates.
Publisher: Wiley
Date: 06-07-2016
DOI: 10.1111/HAE.12949
Abstract: Despite the availability of subcutaneous desmopressin (1-deamino-8-d-arginine vasopressin, SC-DDAVP) as a haemostatic agent for children with mild bleeding disorders, few publications specifically address the safety or efficacy of this mode of administration. Our aim was to assess whether a defined fluid restriction protocol was effective in preventing hyponatremia in children receiving perioperative SC-DDAVP, and to document adequate biological and clinical response in this setting. We retrospectively analysed a cohort of children with mild bleeding disorders prescribed SC-DDAVP over a 5-year period following institution of a 'two-thirds maintenance' fluid restriction protocol. Sixty-nine patients received SC-DDAVP following this protocol, including 15 with mild haemophilia A, 49 with von Willebrand disease (VWD) and five with platelet storage pool disorder. In patients who underwent formal preoperative assessment a complete or partial response was observed in 28/29 with type 1 VWD and 14/15 with mild haemophilia A. Perioperative SC-DDAVP provided excellent haemostasis in all patients, with no requirement for factor concentrate or blood products. Mild asymptomatic hyponatremia was detected in seven children who received multiple doses of DDAVP (lowest sodium 129 mmol L(-1) ) however, adherence to the prescribed fluid restriction protocol was questionable in six of these cases. Symptomatic hyponatremia was not observed. Subcutaneous desmopressin was well-tolerated, with no serious side-effects observed, and good biological responses in preoperative trials. A two-thirds maintenance fluid regimen was effective at preventing symptomatic hyponatremia in our cohort, and is now the standard protocol for fluid restriction post-DDAVP administration in our centre.
Publisher: Georg Thieme Verlag KG
Date: 2022
Publisher: Elsevier BV
Date: 04-2018
DOI: 10.1016/J.JPAG.2018.11.005
Abstract: Heavy menstrual bleeding (HMB) is a common gynecological complaint among young women with up to 40% having experienced HMB. Bleeding disorders are increasingly being recognized in adolescents and young adults with HMB. The aim of this study was to determine the prevalence of bleeding disorders in adolescents with HMB, among patients who presented to the Queensland Statewide Paediatric and Adolescent Gynaecology Service between July 2007 and July 2017. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: The study was a retrospective review of 124 female adolescents aged 8 to 18 years with HMB who presented to the Queensland Paediatric and Adolescent Gynaecology Service, Brisbane, Australia. The primary outcome measure was diagnosis of a bleeding disorder, with secondary outcomes including iron deficiency and/or anemia and treatment modalities. Screening for bleeding disorders was performed in 77/124 (62.1%) of patients with HMB. Twenty-seven adolescents were diagnosed with a bleeding disorder, giving a prevalence of 27/124 (21.7%) in those with HMB, and 27/77 (35%) with HMB who were screened. Of these 35%, von Willebrand disease was the most common bleeding disorder, found in 14/27 (51.6%), followed by inherited platelet function disorders diagnosed in 9/27 (33.3%), thrombocytopenia (inherited or acquired) in 3/27 (11.1%), and Factor IX deficiency in 1/27 (3.7%). Iron deficiency and/or anemia was diagnosed in 53/107 (49.5%) of patients with HMB who were screened for this, and 19/27 (70.3%) of those diagnosed with a bleeding disorder. Adolescents with HMB who present to a tertiary pediatric and adolescent gynecology service should be screened for bleeding disorders, because of the considerably high prevalence in this at-risk population.
Publisher: SAGE Publications
Date: 02-2009
Abstract: The aetiology of systemic lupus erythematosus (SLE) is thought to involve both genetic and environmental factors. In other complex diseases, analysis of large multi-case families has resulted in insights into biological mechanisms. We have sought to characterise the members of an extended Indigenous family, five of whom have been diagnosed with SLE. Pedigree members were evaluated using the Lupus Screening Questionnaire, clinical interviews and medical records. Participants contributed blood and urine s les for laboratory analysis. A Mendelian pattern of inheritance was not observed. The five affected members (all female) shared two American College of Rheumatology criteria (positive ANA and arthritis) but showed a wide variety of other SLE manifestations. Disease onset, severity and progression were discordant. Including the five in iduals with SLE, 15 blood relatives and two non-consanguineous spouses had autoimmune manifestations. Autoimmune haemolytic anaemia (one case), idiopathic thrombocytopenic purpura (ITP) (one case) and hypothyroidism (two cases) were observed in non-SLE affected in iduals. Anti-nuclear antibodies were present in 12 blood relatives and one non-consanguineous spouse. Infections (especially of the skin) were observed to be common in the kindred. The lack of clear Mendelian inheritance or phenotypic concordance makes a rare monogenic explanation for SLE unlikely in this family. The finding of familial autoimmunity associated with SLE further supports the hypothesis that a common genetic pathway can precipitate autoimmunity, with further genes and possible environmental factors interacting to produce the eventual phenotype. Future genetic linkage studies may reveal a rare ‘autoimmune gene’ variant in this kindred.
Publisher: Wiley
Date: 28-02-2018
DOI: 10.1002/MGG3.378
Publisher: Wiley
Date: 08-03-2021
DOI: 10.1111/HAE.14287
Publisher: Wiley
Date: 04-06-2021
DOI: 10.1111/HAE.14353
Abstract: Emicizumab has been shown to be safe and effective for prevention of bleeds in patients with severe haemophilia A (SHA), both with and without inhibitors. The subcutaneous administration and long half‐life make emicizumab an attractive option for prophylaxis in infants with SHA, however data to inform treatment decisions in this younger age group are almost absent. The aim of this report is to share real world experience to illustrate how the availability of emicizumab has shifted the prophylaxis paradigm in the management of infants with SHA. We selected four cases from our own cohort of infants with SHA to outline the rationale for emicizumab prophylaxis in a range of scenarios familiar to paediatric haemophilia treaters. In Case 1 emicizumab was commenced at 7 days following initial treatment of neonatal ICH with a FVIII infusion. In Case 2 emicizumab was commenced at 5 weeks due to parental anxiety regarding the potential for ICH during infancy. Case 3 commenced emicizumab at 15 months in lieu of standard primary prophylaxis. Case 4 switched to emicizumab prophylaxis at 14 months after a period of primary prophylaxis with FVIII concentrates to alleviate parental anxiety regarding future inhibitor development. No patient had any bleeding events after commencement of emicizumab (median follow up 12 months), and no drug‐related adverse effects were observed. Despite the paucity of data in infants with SHA the potential role of emicizumab prophylaxis should be discussed with families when clinically relevant, with decisions tailored to in idual need.
Publisher: Georg Thieme Verlag KG
Date: 2018
Abstract: A previously healthy 3-year-old girl presented with a short history of mucocutaneous bleeding and a spontaneous left knee hemarthrosis following a nonspecific viral gastroenteritis. Initial investigations for a bleeding disorder revealed a normal platelet count however, coagulation studies revealed a prothrombin time (PT) of 25 seconds and an activated partial thromboplastin time (APTT) of 66 seconds (both prolonged). The APTT did not correct on mixing with normal plasma, and further testing confirmed the presence of a strong lupus anticoagulant (LA). One-stage assays of factor VIII, VII, and X were normal, but factor II was markedly reduced. Based on this distinct clinicopathological picture, a diagnosis of lupus anticoagulant hypoprothrombinemia syndrome (LAHS) was made. Due to the presence of a hemarthrosis, the patient was treated with clotting factor concentrate. Human prothrombin complex concentrate (PROTHROMBINEX-VF) was used as a source of factor II replacement however, during the infusion the patient developed anaphylaxis necessitating resuscitation. The patient was observed without further factor replacement, and the bleeding symptoms resolved over several days. Within 3 weeks her PT and factor II had normalized but the APTT remained prolonged. After 6 months the coagulation profile had completely normalized and the LA was negative. It is unusual to require replacement of factor II in paediatric LAHS because bleeding is typically minor and self-limited. Anaphylaxis to clotting factor concentrates has not been previously reported in the context of LAHS, but is well described in patients with congenital factor IX deficiency (hemophilia B). Whilst the potential mechanism for anaphylaxis in our patient is unknown, it is recommended that human prothrombin complex concentrates should be used cautiously in paediatric LAHS.
Publisher: Wiley
Date: 03-01-2018
DOI: 10.1111/HAE.13375
Abstract: With the emergence of novel treatment products for haemophilia and an increasing focus on the benefits of pharmacokinetic driven in idualized prophylaxis, robust national data with regard to current patterns of factor consumption and adherence are required. To characterize current Australian practice with regard to use of prophylactic clotting factor infusions in patients with moderate or severe haemophilia A (HA) and haemophilia B (HB). This was a retrospective, non-interventional study utilizing Australian Bleeding Disorder Registry (ABDR) data collected over a 12 month period. Registered and consented patients with moderate or severe HA or HB without inhibitors were included. A total of 718 HA (551 severe, 167 moderate) and 166 HB (87 severe, 79 moderate) patients were included. Regular prophylaxis was prescribed in 453 patients (82%) with severe HA, 42 patients (25%) with moderate HA, 66 patients (75%) with severe HB and 11 patients (14%) with moderate HB. Near universal prophylaxis was achieved in the paediatric subgroup. The mean weekly dose of factor VIII in severe HA was 84 international units/kg/wk (IU/kg/wk) vs 71 IU/kg/wk of factor IX in severe HB. Most patients on prophylaxis were treated ≥3 times/wk (HA) or 2 times/wk (HB). Non-adherence peaked in the 20-29 year age group. Older in iduals on regular prophylaxis used more factor than was expected for their prescribed regimen. Prophylaxis rates in severe haemophilia are comparable with other developed nations. The benefit of a national registry is demonstrable. Furthermore research into the underlying reasons for non-compliance in young adults with haemophilia is required.
No related grants have been discovered for Jane Mason.