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Acquired Hemophilia A: Pathogenesis and Treatment

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Acquired Hemophilia A: Pathogenesis and Treatment Bleeding disorders Acquired hemophilia A: pathogenesis and treatment P.W. Collins ABSTRACT Arthur Bloom Haemophilia Centre, Acquired hemophilia A is an autoimmune disease caused by an inhibitory antibody to factor VIII. The School of Medicine, severity of bleeding varies but patients remain at risk of life-threatening bleeding until the inhibitor Cardiff University, Heath Park, has been eradicated. The cornerstones of management are rapid and accurate diagnosis, control of Cardiff, UK bleeding, investigation for an underlying cause, and eradication of the inhibitor by immunosuppres - sion. Patients should be managed jointly with a specialist center even if they present without signifi - cant bleeding. Despite an extensive literature, few controlled data are available and management Hematology Education: guidelines are based on expert opinion. Recombinant factor VIIa and activated prothrombin complex the education program for the concentrate are equally efficacious for treating bleeds and both are superior to factor VIII or desmo - annual congress of the European pressin. Immunosuppression should be started as soon as the diagnosis is made. Commonly used reg - Hematology Association imens are steroids alone or combined with cytotoxic agents. Rituximab is being used more commonly but current evidence does not suggest that it improves outcomes or reduces side effects. 2012;6:65-72 Introduction Pathogenesis Acquired hemophilia A (AHA) is a bleed - AHA is associated with autoimmune dis - ing disorder caused by polyclonal IgG1 and eases, such as rheumatoid arthritis, polymyal - IgG4 autoantibodies to the factor VIII ( FVIII ) gia rheumatic, and systemic lupus erythe - A2 and C2 domain. Morbidity and mortality matosis; malignancy; pregnancy and dermato - are high secondary to age, underlying dis - logical disorders, such as pemphigoid. 1,2,4,12-14 eases, and the toxic effects of immunosup - The apparent association with commonly pression and bleeding, and because of this, used drugs, such as penicillin, is almost cer - patients should be managed by specialist cen - tainly due to chance rather than a genuine tres. 1-6 It is important that the disorder is rec - association. In about half of cases, no under - ognized and diagnosed promptly; however, in lying cause is found. 25% of patients, diagnosis is not made for Non inhibitory anti- FVIII antibodies are more than a week after symptoms develop found in healthy people. 15 The cause of break - and this puts patients at unnecessary risk of down in peripheral tolerance to FVIII appears to severe bleeding. 7 Laboratories should have be due to a combination of environmental and systems in place that automatically investi - genetic factors and may differ depending on the gate an isolated prolonged activated partial underlying disease. It is unclear, for example, thromboplastin time (aPTT) so that, even if why AHA is often diagnosed long after the the clinician who has ordered the coagulation presentation of an underlying autoimmune dis - test has not considered AHA as a differential ease and at a median of 3 months postpartum diagnosis, the patient is identified and treated rather than during the pregnancy. The impor - promptly. tance of T cell interactions in the pathogenesis The incidence of AHA was 1.48 8 and 1.34 1 of AHA is supported by associations found with per million/year in the only two studies in polymorphisms in the cytotoxic T-lymphocyte- which patients were linked to a defined pop - associated protein 4 gene and specific HLA ulation. Both these studies are from the class II molecules, such as DRB1*16 and United Kingdom (UK) and the incidence in DRB1*0502. 16 Polymorphisms in the FVIII other populations has not been reported. gene that do not cause low FVIII levels have Incidence increases with age and is estimated been found in patients with AHA, and these to be 0.045/million/year in children under 16 may be associated with a loss of tolerance. 17 The compared with 14.7/million/year in people potential role of antibodies that inactivate FVIII over 85 years. 1 It is likely, however, that AHA and activate factor IX by hydrolysis is also of is under diagnosed, especially in elderly current interest but the precise role in the patho - patients. The literature on AHA has recently genesis of AHA is unclear. 18,19 More information been significantly expanded by data on 501 is needed on the pathogenesis of AHA to help patients prospectively reported to the understand the biology of the disease and to European Acquired Haemophilia Registry design more effective and less toxic treatment (EACH2). 7,9-11 regimens. Hematology Education: the education programme for the annual congress of the European Hematology Association | 2012; 6(1) | 65 | 17 th Congress of the European Hematology Association es were reported in nine subsequent pregnancies in anoth - Diagnosis er study, and the Italian Registry reported no relapses 13 Clinical features amongst four patients. The antibody may affect the FVIII level of the fetus, and this should be anticipated at Patients usually present with subcutaneous bruising, the time of delivery. 31-32 mucosal, and soft tissue bleeds, such as intracranial hem - orrhage, muscle bleeds, and retroperitoneal hematoma (Figure 1 and Figure 2). Bleeding following invasive pro - Treatment cedures is almost inevitable but hemarthoses are uncom - mon. 1,2,4,20 The severity of bleeding is very variable, and Treatment should arrest hemorrhage, eradicate the 25-33% of patients do not require haemostatic therapy. 1,10 inhibitor, treat underlying disease, and protect against Despite this, patients remain at risk of life threatening trauma and non-essential invasive procedures (Figure 1). bleeding until the inhibitor has been eradicated. 1 Patients should be managed by an experienced hemophil - ia center even if the initial presentation appears benign. Laboratory diagnosis Invasive procedures should be avoided, and venepuncture Investigation reveals a prolonged activated partial and blood pressure monitoring should be kept to a mini - thromboplastin time and a normal prothrombin time mum (Figure 2). Patients should be educated to recognize (Figure 1 and Figure 3). Anti- FVIII antibodies are time and report symptoms early. 3,5,33 and temperature dependent and so the aPTT corrects less after 1-2 hours incubation with normal plasma than after Haemostatic management an immediate mix. The diagnosis is confirmed by a low Bleeds may be very severe, and prompt haemostatic FVIII and a raised inhibitor titre on Bethesda assay. control is important to reduce morbidity and mortality. Acquired inhibitors often exhibit complex kinetics and Available haemostatic agents do not have predictable effi - residual FVIII can be measured, this makes establishing cacy and so regular clinical review supported by appro - an accurate inhibitor titre difficult. It is common practice priate imaging and measurement of hemoglobin level is to report the titre based on the dilution in the Bethesda required. In contrast, many patients do not need haemo - assay closest to 50% inhibition. The anti- FVIII antibody static treatment, and subcutaneous bleeding, even if may interfere with the measurement of other intrinsic fac - extensive, can be managed conservatively (Figure 3). 5,33 tors. Dilution experiments will demonstrate a progressive The current options for haemostatic control are the use increase in these apparently decreased coagulation factors of bypassing agents, human FVIII (potentially with whilst FVIII remains low. A lupus anticoagulant may also immunoadsorption), and DDAVP. Haemostatic therapy interfere with coagulation factor assays, potentially lead - often needs to be continued at a reduced dose, and fre - ing to diagnostic difficulties. An ELISA assay may be quency after the bleeding has been stopped to prevent useful in complicated cases. 5,21 There have been reports of recurrence. Mucosal bleeds benefit from concomitant anticoagulant and anti-platelet drugs either masking or therapy with an anti-fibrinolytic agent. being associated with AHA, and it is important to meas - ure the aPTT, as well as the INR when patients on war - Bypassing agents farin present with abnormal bleeding. 22-25 At the time of writing, the available bypassing agents are Novoseven (rFVIIa) and the activated prothrombin complex concentrate Factor Eight Inhibitor Bypassing Pregnancy related acquired hemophilia Activity (FEIBA). A retrospective report of 139 patients treated with rFVIIa described 182 bleeds. In the 103 AHA is a very rare complication of pregnancy 13,26-28 but episodes where rFVIIa was used as first line therapy, it accounts for most cases of AHA in people below the age was effective or partially effective in 95%. 34 A similar first of 40 years. 11 It affects about 1 in 350,000 births in the UK line efficacy was reported to the EACH2 registry. 10 When and a similar incidence has been reported in Italy. 1,13 used as second line therapy, rFVIIa was reported to have Diagnosis is made a median of 3 months postpartum 80% efficacy and in 57 surgeries, an effective or partially although AHA may present up to a year after delivery. effective response was reported in 86% of cases. 34 Abnormal bleeding at the time of delivery is also com - In the EACH2 registry, 64 bleeds were treated with mon. One of 42 cases in the EACH2 registry presented FEIBA with 94% efficacy. 10 Similar results were found in ante-partum although there was evidence for undiagnosed a retrospective study of 34 severe and moderate bleeds. A ante-partum inhibitors in a further seven. median of six infusions were needed for moderate bleeds Retrospective reviews have suggested a longer time to with 100% haemostatic efficacy at a median of 36 hours remission in pregnancy-related AHA compared with other compared with ten infusions for severe bleeds with 76% aetiologies, 26-28 although this was not seen in the 42 haemostatic control at a median of 48 hours. 35 patients reported to EACH2 and spontaneous remissions Although rFVIIa and FEIBA have not been directly are recognized.
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