Anaesthetic Considerations in Patients with Inherited Disorders of Coagulation
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Anaesthetic considerations in patients with inherited disorders of coagulation Matrix reference 1A02, Ushma Jitendra Shah MB BS DNB EDA EDRA 2A03, 2A05 Madan Narayanan MB BS MD FRCA FCARCSI EDIC J Graham Smith BSc MB BCh MD FRCP FRCPath Inherited bleeding (haemostatic) and clotting spontaneously or after trauma. The risk of bleed- Key points (thrombotic) disorders are rare but sometimes ing increases as the factor levels decrease Congenital disorders of coagulation are uncommon but present significant encountered by anaesthetists during emergency (Table 2). Patients usually present with bleeding challenges in the perioperative period. or elective surgeries. The perioperative manage- into the weight-bearing joints (knees, ankles and Multidisciplinary input and an ment of these uncommon conditions can be elbows), muscles and rarely the genitourinary individualized management plan depending on the type of disorder challenging. In this article, we discuss the most system. The most common cause of death is intra- and surgery is essential to optimize common inherited coagulation disorders, their cranial bleed. The routine clotting screen may be outcome. pathophysiology, and perioperative anaesthetic normal and the only abnormality may be a pro- Fresh-frozen plasma should not be considerations. longed activated partial thromboplastin time. The used to replace clotting factors. definitive diagnosis is made only by a factor level Specific recombinant factor replacement for the inherited Inherited bleeding disorders assay. bleeding disorders and therapeutic anticoagulation for clotting disorders The most frequent inherited bleeding disorders are the cornerstones of management. and their inheritance are summarized in Table 1. Von Willebrand’s disease Recombinant activated factor 7 has Of all the congenital bleeding disorders, haemo- revolutionized the management of VWD is the most common of inherited bleeding haemophilia patients with inhibitors. philia and von Willebrand’s disease (VWD) are disorders. The prevalence of VWD is one in 100 Non-steroidal anti-inflammatory the most common. but is asymptomatic in the majority of patients drugs and other drugs altering the coagulation are in general avoided. and is clinically significant in only one in 10 000 patients.2,3 VWD is caused by either a quantita- No specific guidelines exist for Pathophysiology and diagnosis tive or qualitative defect in von Willebrand’s neuraxial techniques or peripheral Haemophilia nerve blocks in these patients. Risk– factor (VWF). VWF is a plasma glycoprotein benefit assessment on an individual Haemophilia can be classified as haemophilia which plays a vital role in platelet adhesion, ag- basisiscrucial. A, B, or C depending on the deficiency of the gregation, and also acts as a carrier for factor coagulation factors VIII, IX, or XI respectively. VIII and thereby decreasing its clearance from Ushma Jitendra Shah MB BS DNB EDA Haemophilia A and B are inherited as X-linked plasma. VWF is synthesized in bone megakaryo- EDRA recessive (XLR) disorders due to mutation in the cytes and vascular endothelium and stored in Clinical Fellow—Anaesthesia Department of Anaesthetics long arm of chromosome X at F8 and F9 genes, Weibel–Palade bodies in the endothelial cells. Frimley Park NHS Trust respectively.1 As with any XLR disorder, males Deficiency of VWF leads to easy bruising from Camberley GU16 7UJ, UK are affected and females are carriers. One-third trivial trauma; in particular, bleeding from mucosal Madan Narayanan MB BS MD FRCA of the patients presenting with haemophilia have surfaces, that is, epistaxis, gums, and bowel. FCARCSI EDIC no family history. Depending upon the type of VWD, patients can Consultant in Anaesthesia and Intensive Factors VIII and IX mainly play an important have prolonged bleeding after surgery. Of all Care role in the intrinsic pathway of the clotting blood groups, people with blood group O tend to Department of Anaesthetics Frimley Park NHS Trust cascade. These factors are required for thrombin have low VWF levels. Portsmouth Road generation and fibrin formation. The plasma VWD is classified by the International Camberley GU16 7UJ, UK, Tel: þ44 concentration of factors VIII and IX can be Society on Thrombosis and Haemostasis (ISTH) 1276604161 21 E-mail: [email protected] expressed in IU ml or as percentages of based on quantitative or qualitative defect of (for correspondence) normal pooled plasma. 1 IU is the concentration VWF into three types.2 In type 1 VWD, there is J Graham Smith BSc MB BCh MD FRCP of coagulation factor in 1 ml of normal pooled a quantitative defect, whereas in type 2 VWD, 21 FRCPath plasma. The normal value is 0.5–1.5 IU ml or there is a qualitative defect. Type 2 is further Consultant Haematologist 50–150%. subclassified into four types (type 2A, 2B, 2M, Frimley Park NHS Trust and University Diagnosis of haemophilia is usually sus- 2N) depending upon the associated platelet of Surrey, Guildford Camberley GU16 7UJ, UK pected when bleeding symptoms occur binding and function, factor VIII binding doi:10.1093/bjaceaccp/mku007 Advance Access publication 24 April, 2014 26 Continuing Education in Anaesthesia, Critical Care & Pain | Volume 15 Number 1 2015 & The Author [2014]. Published by Oxford University Press on behalf of the British Journal of Anaesthesia. Downloaded from https://academic.oup.com/bjaed/article-abstract/15/1/26/257411 by guest All rights reserved. For Permissions, please email: [email protected] on 13 November 2017 Anaesthetic considerations Table 1 Inherited bleeding disorders. XLR, X-linked recessive; AD, autosomal-dominant; AR, autosomal-recessive; VWF,von Willebrand’s factor Disorder Inheritance Primary defect Incidence Haemophilia A XLR Factor VIII deficiency 1/5000 male births Haemophilia B XLR Factor IX deficiency 1/25 000 male births Haemophilia C AD/AR Factor XI deficiency Von Willebrand’s disease AD/AR VWF qualitative or quantitative defect 1/10 000 Rare bleeding disorders Factor II, V, VII, X, XIII deficiency AR ,1/million Dysfibrinogenaemia AD ,1/million Table 2 Grading of severity of haemophilia Table 3 Screening blood tests in haemophilia and von Willebrand’s disease (VWD) Haemophilia (A, B, or C) Mild Moderate Severe Test Haemophilia VWD % activity of factors 5–40 1–5 ,1 Platelet count Normal Normal or reduced Factor levels (IU ml21) 0.05–0.40 0.01–0.05 ,0.01 Bleeding time Normal Normal or prolonged Prothrombin time Normal Normal Activated partial thromboplastin time Prolonged Normal or prolonged capacity, and number of high molecular weight VWF multimers. In type 3 VWD, there is a complete absence of VWF. Type 1 VWD is a † Preoperative clotting screen and specific factor assays depending mild–moderate bleeding disorder, whereas type 3 VWD is a severe on the type of bleeding disorder and preoperative transfusion of bleeding disorder. VWD shows autosomal inheritance (dominant or recombinant factors 30–60 min before the surgical procedure. recessive) depending on the subtype. Often the only abnormality is a † Perioperative avoidance of mucosal trauma, i.m. injections, prolonged bleeding time as normal screening tests do not rule out maintenance of normothermia, and pressure point care. VWD (Table 3). In general, lab diagnosis of VWD is made with † Care with vascular access and invasive monitoring. Consider quantitative factor VIII, VWF, collagen binding assays, ristocetin early use of ultrasound. cofactor activity, and multimeric analysis. The qualitative assays † Avoidance of tachycardia and hypertension. include tests such as glycoprotein binding assay, ristocetin cofactor † Risk–benefits for neuraxial block and regional blocks need to 3 activity (VWF:RCo), and ristocetin-induced platelet agglutination. be assessed individually and in general avoided. † Early mobilization, consider mechanical deep venous thrombosis Anaesthetic considerations prophylaxis. Risk–benefits of pharmacological methods must be considered and discussed with the surgeon and haematologist. Preoperative assessment † Multimodal pain management, avoid non-steroidal anti- inflammatory drugs. A detailed history about the type of haemophilia and VWD and its se- verity must be obtained. Prior information about response to DDAVP, use of recombinant factors VIII and IX, and previous transfusion of Specific management blood will be useful. A complete blood count, coagulation profile and fibrinogen level, and specific factor assays must be done if indicated. Haemophilia All patients must be evaluated for the presence of transfusion-related Before introduction of viral inactivation methods, the most common infections such as HIV and hepatitis B and C. Examination for the cause of death in haemophilliacs was due to transfusion of transmit- presence of joint deformities, contractures, and a thorough airway ted viral infections such as Hepatitis C and HIV. The general move assessment. Preoperative assessment ideally must be done by a team over the years has been away from pooled plasma products to recom- of haematologist, surgeon, and anaesthetist, so that a tailored individ- binant factors. ual plan is formulated and discussed with the patient. Patients with haemophilia need 80–100% correction of their factor VIII before any major surgical procedure and this must be General principles confirmed before surgery. Postoperatively, levels should be main- tained for up to 6 weeks after orthopaedic procedures and 1–2 † Multidisciplinary management comprising haematologist, surgeon, weeks for other procedures.1,4,5 anaesthetist, physiotherapist,