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 Table of Contents  
CASE REPORT
Year : 2020  |  Volume : 8  |  Issue : 4  |  Page : 96-98

Bernard–Soulier syndrome and anesthetic management


1 Department of Anesthesiology, LVPEI- Hyderabad, Telangana, India
2 Department of Glaucoma, LVPEI- Hyderabad, Telangana, India
3 Department of Anesthesiology, MRMCW-Hyderabad, Telangana, India

Date of Submission14-Oct-2020
Date of Decision24-Nov-2020
Date of Acceptance29-Nov-2020
Date of Web Publication25-Dec-2020

Correspondence Address:
Dr. Manjula Venkatesh Ramsali
Department of Anesthesia, LVPEI, Hyderabad, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/mjhs.mjhs_16_20

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  Abstract 


Bernard–Soulier syndrome (BSS) is a rare autosomal recessive disease with bleeding diathesis due to platelet dysfunction secondary to the absence of the von Willebrand factor receptor on the platelet surface called glycoprotein Ib–V–IX. The deficiency results in prolonged bleeding time and spontaneous bleeds and may be with high risk for anesthesia and surgery. Here, we report a case of BSS coming for trabeculectomy.

Keywords: Anesthesia, Bernard–Soulier syndrome, bleeding disorder, platelet transfusion, surgery


How to cite this article:
Ramsali MV, Hadigal RN, Koshy P G, Senthil1 S, Surender P, Devi V S. Bernard–Soulier syndrome and anesthetic management. MRIMS J Health Sci 2020;8:96-8

How to cite this URL:
Ramsali MV, Hadigal RN, Koshy P G, Senthil1 S, Surender P, Devi V S. Bernard–Soulier syndrome and anesthetic management. MRIMS J Health Sci [serial online] 2020 [cited 2021 Jan 21];8:96-8. Available from: http://www.mrimsjournal.com/text.asp?2020/8/4/96/304928




  Introduction Top


Bernard–Soulier syndrome (BSS) is a rare inherited autosomal recessive disease originally described in 1948 for the first time by two physicians with bleeding diathesis characterized by platelet dysfunction secondary to the absence of the von Willebrand factor (vWF) receptor on the platelet surface[1],[2] called glycoprotein (GP) Ib–V–IX. The deficiency results in prolonged bleeding time (BT) with high risk of spontaneous bleeds. Easy bruising, nose bleeds, bleeding from gums, heavy or prolonged menstrual bleeding (menorrhagia) or bleeding after childbirth, abnormal bleeding after surgery are the usual clinical presentations. Few reports are available in clinical literature of BSS patients with anesthetic and surgical management. Here, we report anesthetic management in a case of BSS coming for trabeculectomy.


  Case Report Top


A 22-year-old male patient who was diagnosed as BSS 10 years back was posted for trabeculectomy surgery. A complaint of right eye diminution of vision for 3 months on ophthalmic examination showed uveal coloboma, complicated cataract, and secondary glaucoma. He gives a history of prolonged bleeding from wounds, recurrent eye bleeds, ecchymosis, and petechiae. His brother succumbed due to similar problems 4 years back. On examination O/E pulse rate was 80/min, blood pressure (BP) of 110/80 mmHg, afebrile, height of 165 cm, and weight of 60 kg. Systemic examination was normal except for low IQ and airway was adequate with Mallampati grade-I. Blood INV showed HB of 14 g%, white blood cell – 4200 cumm, N – 33.7% L – 58.3%, and M – 8%. BT was 3.5 min and clotting time – 4.8 min with a platelet count of 67000 cell/cumm. As the diagnosis of deranged platelet count and function was done earlier and patient vision was required to be saved by decreasing intraocular pressure by doing trabeculectomy surgery, we discussed with the surgeon, physician, and hematologist and decided to go ahead with perioperative platelet transfusion. The complications associated with the surgery and platelet transfusion were explained, and the risk consent was taken from the patient and the parents.

Anesthetic management

The patient was admitted 2 days before surgery, and one unit single-donor platelet (SDP) was given the day before, one unit on the day of surgery in the morning before surgery. In the operating room, baseline monitoring SPO2 and electrocardiogram and noninvasive blood pressure were connected. A 22G IV line was secured, preoxygenated with 100% oxygen, induced with glycopyrrolate 0.2 mg, propofol 120 mg, fentanyl 120 μg, and atracurium 30 mg. I-Gel size 4 was then introduced and anesthesia was maintained on intermittent positive pressure ventilation with O2, N2O, and sevoflurane 2%–4%. Towards end of the surgery, reversed with neostigmine and glycopyrrolate and after satisfactory recovery I-Gel was removed. First postoperative day, one more unit of SDP was transfused. The patient was discharged on the second postoperative day, and follow-up examinations went uneventful.


  Discussion Top


BSS is a rare, inheritable (autosomal recessive) platelet disorder affecting one in every million individuals.[1],[2],[3] A mutation of GP complex 1b–V–IX renders platelets unable to bind to vWF and formation of clots. The defective GPIb–IX–V complex is expressed on the surface of the inactivated platelet, thus pushing these patients at risk of severe bleeding. Following vessel injury, the first step in hemostasis is the formation of a platelet plug. Vessel damage exposes the subendothelial connective tissue to the circulating vWF and then binds to it. vWF acts as a bridge between the damaged vessel wall and the circulating platelet. Shear forces expose the A1 active zone on vWF and reversibly bind with the GPIb–IX–V complex, the missing component in BSS.[4] The binding of the Ib complex results in a reduction of the rolling velocity of platelets as they flow past the damaged vessel wall. A more permanent bond is then formed between GPIIb–IIIa and vWF1, with subsequent platelet aggregation and activation.

Characteristic features of BSS include prolonged BT, thrombocytopenia, and megakaryocytes. Platelets do not clump together normally in the presence of ristocetin (a substance that normally promotes platelet aggregation). GPIb/IX/V is not detectable[5] in blood samples (using a test called flow cytometry). The platelet abnormality is lacking the ability to stick adequately to injured blood vessel walls. This is a crucial aspect of the process of forming a blood clot, and as a result of this problem, there is excessive bleeding.

The diagnosis of platelet function disorders requires a vigilant medical history and a series of laboratory tests performed under the guidance of hematologists and hemophilia centers. The diagnosis of B-SS is made when these patients seek medical attention for prolonged or recurring bleeding episodes such as easy bruising, nose bleeds, bleeding from gums, heavy or prolonged menstrual bleeding (menorrhagia) or bleeding after childbirth, abnormal bleeding after surgery, circumcision, or dental work, rarely vomiting blood or passing blood in stool due to bleeding from the gut (gastrointestinal hemorrhage), or similar history in the family.[2]

Treatment

Most people with platelet function disorders only need treatment during surgery. BSS may be treated with antifibrinolytic drugs, recombinant Factor VIIa, desmopressin acetate (DDAVP), and fibrin sealants. Hormonal contraceptives may be required to control excessive menstrual bleeding, and iron replacement helps to treat anemia caused by excessive or prolonged bleeding. Severe bleeding episodes may require platelet and blood transfusions.

Patients with BSS should avoid drugs such as aspirin, ibuprofen, and naproxen which may interfere with clot formation. Blood thinners can make their bleeding symptoms worse. Recombinant clotting factors and a coagulation drug known as DDAVP may also be of short-term benefit in selected patients.

DDAVP binds to V2 receptors that are found on endothelial cells causing vWF release and promote Factor VIII.[6] DDAVP also stimulates renal reabsorption of water and causes hyponatremia. Bisland and Smith[4] observed a slight drop in Na+ levels in the perioperative period which got corrected quickly after the DDAVP was stopped.

Tranexamic acid (TA) is an antifibrinolytic that inhibits the activation of plasminogen to plasmin and decreases blood loss without increased risk of deep vein thrombosis or pulmonary embolism.[7],[8] Doses 10–15 mg/kg are used for IV/oral, whereas TA (topical) can be used through the open wound intraoperatively with doses 24 mg/kg, respectively.

Anesthetic considerations

Anesthesia remains challenging in these patients.[1],[2] BSS patients require rigorous perioperative planning.[2] Halothane is known to inhibit platelet function, while isoflurane and enflurane do not.[9] The inhibitory effect of propofol on platelets is not evident at clinically relevant doses, and its ease of induction outweighs this theoretical risk.[7] Epidural or lumbar spine blocks and/or controlled hypotension can also reduce potential blood loss by 30%–50%.[8] The potential risk for bleeding in and around the spinal cord cannot be ignored, making the regional anesthesia a relative contraindication in these patients. Maintaining intraoperative systolic blood pressure <100 mmHg helps to reduce blood loss compared to what we expect in patients without BSS[4] and avoid hemodilution which could potentially exacerbate the existing coagulopathy. Multiple platelet transfusions may be required and watch for any adverse reactions. For total hip arthroplasty, Bisland and Smith[4] used TA, desmopressin, and platelet transfusion and also avoided nonsteroidal anti-inflammatory drugs for pain management which is said to increase blood loss.

Recombinant Factor VIIa can be used as the first line of therapy alongside platelet transfusion.[10] Factor VIIa causes an increase in thrombin and fibrin generation while facilitating platelet aggregation.[3] It should be noted that the other agonists, such as adenosine diphosphate and collagen, will still trigger platelet activation and aggregation. Its efficacy has been of such a nature that it has been proposed as first-line therapy in some units.[11] Platelets, TA, red blood cells (RBCs), and fibrin degradation products were used by Rodseth[12] for abdominal hernia repair, while Kostopanagiotou et al.[9] had used platelets, desmopressin, and hydrocortisone along with RBCs and fresh frozen plasma transfusion for emergency laparotomy with bleeding. Factor VIIa and TA were used by Hacihanefioglu et al.[13] in the management and prophylaxis of bleeding episodes in two patients with BSS. The use of corticosteroids to improve the platelet function is reported. Our case was ophthalmic surgery; even though bleeding is less, we used SDP as a precaution to prevent bleeding at the surgical site causing worsening of vision and also avoided tracheal intubation to prevent any airway trauma and kept on spontaneous breathing with laryngeal mask airway. The surgery could have been done under local anesthesia, but the patient was not co-operative and had a low IQ and also apprehensive due to the chronic disorder.

Summary

An anesthesiologist needs to properly understand the pathophysiology of the rare Bernard Soulier syndrome, correct the bleeding disorder, properly plan for perioperative management and coordinate with the other team members so as to improve the surgical outcome.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Mansour J, Graf K, Lafferty P. Bleeding disorders in orthopedic surgery. Orthopedics 2012;35:1053-62.  Back to cited text no. 1
    
2.
Pham A, Wang J. Bernard-Soulier syndrome: An inherited platelet disorder. Arch Pathol Lab Med 2007;131:1834-6.  Back to cited text no. 2
    
3.
Bernard J, Soulier JP. Concerning a new variety of congential haemorrhagic thrombocytopenic dystrophy. Sem Hop Paris 1948;24:3217-23.  Back to cited text no. 3
    
4.
Bisland S, Smith F. Total hip arthroplasty in a young patient with bernard-soulier syndrome. J Orthop Case Rep 2014;4:38-41.  Back to cited text no. 4
    
5.
López JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood 1998;91:4397-418.  Back to cited text no. 5
    
6.
Kemahli S, Canatan D, Uysal Z, Akar N, Cin S, Arcasoy A. DDAVP shortens bleeding time in Bernard-soulier syndrome. Thromb Haemost 1994;71:675.  Back to cited text no. 6
    
7.
Aoki H, Mizobe T, Nozuchi S, Hiramatsu N. In vivo and in vitro studies of the inhibitory effect of propofol on human platelet aggregation. Anesthesiology 1998;88:362-70.  Back to cited text no. 7
    
8.
Rodgers A, Walker N, Schug S, McKee A, Kehlet H, van Zundert A, et al. Reduction of postoperative mortality and morbidity with epidural or spinal anaesthesia: Results from overview of randomised trials. BMJ 2000;321:1493.  Back to cited text no. 8
    
9.
Kostopanagiotou G, Siafaka I, Sikiotis C, Smyrniotis V. Anesthetic and perioperative management of a patient with Bernard-soulier syndrome. J Clin Anesth 2004;16:458-60.  Back to cited text no. 9
    
10.
Ozelo MC, Svirin P, Larina L. Use of recombinant factor VIIa in the management of severe bleeding episodes in patients with Bernard-soulier syndrome. Ann Hematol 2005;84:816-22.  Back to cited text no. 10
    
11.
Zhou XD, Tao LJ, Li J, Wu LD. Do we really need tranexamic acid in total hip arthroplasty? A meta-analysis of nineteen randomized controlled trials. Arch Orthop Trauma Surg 2013;133:1017-27.  Back to cited text no. 11
    
12.
Rodseth RN. The perioperative management of Bernard-soulier syndrome: A case report and review of the role of perioperative factor VIIa. S Afr J Anaesthesiol Analg 2010;16:37-9.  Back to cited text no. 12
    
13.
Hacihanefioglu A, Tarkun P, Gonullu E. Use of recombinant factor VIIa in the management and prophylaxis of bleeding episodes in two patients with Bernard-Soulier syndrome. Thromb Res 2007;120:455-7.  Back to cited text no. 13
    




 

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