Diagnosis of previously unidentified haemophilia A in a patient following routine endoscopic sinus surgery





Abstract


Procedures in the field of head and neck surgery can be complicated by haemorrhage and post-operative bleeding. Whilst it is commonplace to screen for coagulopathies in the pre-operative period, rare congenital bleeding disorders can be difficult to detect and can have significant consequences. We report a case of post-operative bleeding following routine sinus surgery due to an undiagnosed case of haemophilia A in a 65-year-old male.


Highlights





  • The prevalence of undiagnosed bleeding disorders in the community is poorly understood.



  • Unidentified bleeding disorders pose a risk of hemorrhage and post-surgical bleeding.



  • Surgeons should remain aware of the risk of undiagnosed coagulopathies and consider referral to a hematologist for post-operative bleeding.



Introduction


Procedures in the field of head and neck surgery can be complicated by haemorrhage and prolonged post-operative bleeding. Although rare, coagulopathies should therefore always be considered. Coagulopathies can be separated into two discrete categories: acquired and congenital.


Acquired coagulopathies can correlate both to drug-induced platelet dysfunction, as well as systemic conditions such as haematopoietic malignancies, liver and renal failure. Although typically easily screened for and managed during the pre-operative period, rarer or asymptomatic forms may remain hidden until procedural or post-operative complications occur.


The most common examples of congenitally acquired bleeding disorders include Haemophilia A or B and von Willebrand Disease (vWD). The effect of these coagulopathies can range from clinically silent to life-threatening. Importantly, cases of previously undiagnosed bleeding disorders can present first with high-risk complications such as haemorrhage or extended post-operative bleeding in the surgical setting—sometimes with life-threatening consequences [ ]. The prevalence of bleeding disorders remaining unidentified at the time of surgery is not well understood. Previous otorhinolaryngology-based studies have suggested that undiagnosed coagulopathies are of clinical concern for surgeons [ ]. There are reports of undiagnosed bleeding disorders causing haemorrhage following dental extraction [ ]. We report a case of a previously undiagnosed Haemophilia A patient who underwent functional endoscopic sinus surgery (FESS) complicated by prolonged post-surgical epistaxis. The aim of this report is to highlight the risk of surgical complications in patients with undiagnosed coagulopathy. Further, to highlight the role of a diagnostic workup including history when considering these procedures.


Case report


A 65-year-old man presented to an otorhinolaryngologist for management of chronic nasal obstruction and recurrent rhinosinusitis. He had undergone previous tonsillectomy aged 4 and sinus surgery and septoplasty aged 27 for management of nasal polyps. He was clinically well and had no significant medical history. He denied any issues with previous surgeries, nor any knowledge of pre-existing coagulopathies. He reported nil concurrent use of blood thinning medications. Pre-operative sinus computed tomography scan (CT) demonstrated mucosal thickening in the right maxillary sinus and bilateral narrowing of maxillary infundibulum ( Fig. 1 ). It was determined that he would be a suitable candidate for FESS.




Fig. 1


Preoperative CT of paranasal sinus showing mucosal thickening in the right maxillary sinus and bilateral narrowing of the maxillary infundibulum.


During surgery, the patient underwent turbinate reduction for nasal obstruction, bilateral ethmoidectomy to open the frontonasal recess and bilateral antrostomies to improve maxillary sinus drainage. Satisfactory intra-operative haemostasis during and at the end of the procedure was easily achieved. PureRegen (BioRegen®) gel was applied and loose nasal packing with Telfa (Covidien®) was inserted to aid continuing homeostasis and healing. Post-operatively the patient was prescribed a short course of 500mg Klacid (Mylan®) and Prednisone (Aspen®) and advised to withhold nasal saline irrigations for one week.


There was no abnormal bleeding during hospitalisation but started on the day after surgery following discharge. The patient complained of a post-nasal blood stained drip and haemoptysis. Patient was advised to apply ice intermittently to help clot formation. This was done to good effect. One week following the procedure the patient presented for routine follow-up complaining of persistent ooze and epistaxis. A full blood count was conducted to assess severity of blood loss. Haemoglobin was 133g/L and the patient booked for further follow-up. At two-week review, the patient re-presented citing worsening epistaxis, fatigue and nausea. In retrospect, with careful prodding, the patient recalled having had post-operative bleeding following the prior sinus procedure, 27 years earlier. In fact, he admitted to needing a blood transfusion at that time. Additionally, he reported a positive family history of a grandchild with haemophilia A. An urgent referral was made to haematology for suspected undiagnosed coagulopathy with a provisional diagnosis of Haemophilia A in this otherwise active 65-year-old who was an avid amateur triathlete for many years.


With coagulopathic disorder screening, initial haematological results demonstrated a Factor VIII (FVIII) procoagulant activity (VIII:C) of 0.52 U/mL – within the normal range. However, a diagnosis of haemophilia A was confirmed by FVIII genomic sequencing analysis detecting the presence of a hemizygous FVIII pathogenic variant. Additionally, von Willebrand Factors were within normal limits, excluding the more common coagulopathy of vWD. The patient was counselled on his novel diagnosis of Haemophilia A and provided with a copy of results for guidance of future dental and medical procedures.


Discussion


Coagulation impairing Haemophilia A, also known as classical haemophilia, is an X-linked disorder of FVIII deficiency. It is linked to dysfunction of the FVIII gene and leads to excess bleeding with compromised haemostasis. Dependent on disease severity, symptoms can range from spontaneous bleeding to prolonged oozing from surgical wounds. The surgical complications of severe haemophilia can include life-threatening blood loss [ ]. The management of patients with known diagnoses of haemophilia requiring surgery of any form should involve a multidisciplinary approach between surgeons, anaesthetists and haematologists. Early diagnosis of classical haemophilia is key for patient care with prophylactic FVIII supplementation allowing for relatively problem free haemostatic control [ ].


Haemophilia A is one of the more common inherited coagulation disorders with an estimated worldwide incidence of 1 in 5000 male births. The majority of cases of haemophilia A are diagnosed by 2 years of age [ ]. This case however highlights the fact that not all cases receive a formal diagnosis. Further research is required to improve our understanding of the prevalence of undiagnosed coagulopathies. Due to poor sensitivity, unselective pre-operative coagulation screening is not routinely recommended for low-to-moderate risk head and neck procedures [ ]. Screening for congenital and acquired bleeding disorders relies on a thorough personal and family history of bleeding issues, a task which relies heavily on patients accurately recalling relevant information. The authors of this paper suggest that surgeons should remain aware of the risk of unexpected bleeding due to undiagnosed coagulopathy. Additionally, the occurrence of post-operative bleeding may be an indication that an undiagnosed congenital bleeding disorder is present. Thus, surgeons have a role in the identification and diagnostic investigation of such cases. This is of particular importance in paediatric patients where surgical procedures may be the first bleeding challenge, though there may also be a role in older patients.


The pre-operative period for all head and neck surgical procedures should include a detailed history to screen for risk factors associated with bleeding disorders. Patients should specifically be questioned about recurrent and frequent epistaxis, bruising, haemarthrosis, known family history of coagulopathies, as well as complications following prior surgical procedures. Surgeons should ensure to maintain competency in managing surgical bleeding and haemorrhage in the operative and post-operative period when it does occur. Additionally, patients who experience excessive bleeding without obvious cause should be probed for risk factors of coagulopathies at follow-up. These patients potentially need a bleeding profile study, including the usual bleeding screen and von Willebrand factors, along with a platelet function assay. Referral to a haematologist should be considered on review. A thorough history was important in this case. The further history taken revealed the fact that this man had a grandson with haemophilia and had a previous undisclosed blood transfusion for nasal surgery three decades previously; strongly hinting at this rare, and unlikely, diagnosis of haemophilia in an otherwise fit and active 65-year-old man. Unexpected surgical bleeding may have multiple causes including undiagnosed congenital coagulopathies. Of these disorders, vWD may be a much more likely diagnosis due to its prevalence; however, this case suggests that haemophilia and rarer forms of congenitally acquired bleeding disorders should also be considered.


Conclusion


This case highlights the fact that undiagnosed bleeding disorders can be a cause of prolonged bleeding during surgery and in the post-operative period. This is of particular concern for surgeons working in the fields of otorhinolaryngology where haemorrhage and prolonged bleeding can lead to airway obstruction. Similarly, active haemostatic manoeuvres such as diathermy, tying off or oversewing bleeding sites etc, can be difficult to impossible in some of these areas of concern. Surgeons should be aware of the fact that undiagnosed coagulopathies can be a cause of unexpected intraoperative bleeding and seek to maintain competency in managing bleeding and haemorrhage. Unexpected bleeding should be investigated at post-operative review and patients should be potentially referred to a haematologist.


Consent


Informed consent was obtained from all participants included in this study.


Funding


This research did not receive any specific grant from funding agencies in the public, commercial or not-for-profit sectors.


Ethical statement


The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient.


CRediT authorship contribution statement


Brendan P Forrest: Conceptualization, Investigation, Writing – original draft. Ruben de Klerk: Investigation, Writing – original draft. Hooman Baghaie: Visualization, Writing – review & editing. Christopher F Perry: Supervision, Writing – review & editing.


Declaration of competing interest


The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.


Acknowledgements


Kerry Taylor MBBS(Hons), FRACP, FRCPA, Icon Cancer Centre provided all relevant information regarding the diagnosis of haemophilia A in this patient.




References

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Jul 5, 2021 | Posted by in OTOLARYNGOLOGY | Comments Off on Diagnosis of previously unidentified haemophilia A in a patient following routine endoscopic sinus surgery
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