|Ahead of print publication
Challenges in the diagnosis and management of a patient with von Willebrand's disease in a resource-limited setting; A case report of a 7-year-old boy with massive cephal-hematoma
Dalha G Haliru1, Usman A Makuku2, Desmond Ojei2
1 Department of Haematology, Aminu Kano Teaching Hospital, Bayero University, Kano, Nigeria
2 Department of Haematology, Aminu Kano Teaching Hospital, Kano, Nigeria
|Date of Submission||20-Nov-2021|
|Date of Decision||01-May-2022|
|Date of Acceptance||02-Feb-2023|
|Date of Web Publication||10-Apr-2023|
Dalha G Haliru,
Department of Haematology, Aminu Kano Teaching Hospital, Bayero University, Kano
Source of Support: None, Conflict of Interest: None
von Willebrand disease (vWD) is the commonest inherited bleeding disorder. In Nigeria like many other developing countries, there are only a few documented patients with this condition. This low number of patients with vWD in our setting is multifactorial; including lack of a high index of suspicion among clinicians, lack of diagnostic facilities, and unavailability of blood products and/or desmopressin used in treating bleeding episodes in these patients among others. We present a 7-year-old boy who presented to our facility with massive cephal-hematoma following trauma.
Keywords: Blood products, cephal-hematoma, desmopressin, von Willebrand disease
|How to cite this URL:|
Haliru DG, Makuku UA, Ojei D. Challenges in the diagnosis and management of a patient with von Willebrand's disease in a resource-limited setting; A case report of a 7-year-old boy with massive cephal-hematoma. Niger J Basic Clin Sci [Epub ahead of print] [cited 2023 Jun 10]. Available from: https://www.njbcs.net/preprintarticle.asp?id=374001
| Introduction|| |
Patients with vWD have either decreased quantity of or a functionally defective von Willebrand factor (vWF)., vWF plays two major roles in hemostasis; following injury it mediates adhesion of platelets via GPIb–IX–V to the exposed subendothelial matrix and also protects circulating FVIII from proteolysis., vWD is classified into three types: Types I, II, and III. Types I and III are due to decreased quantity of vWF, while type II is due to functional abnormality of vWF.
Majority of patients present with mild-to-moderate mucocutaneous bleeds such as epistaxis, petechiae, menorrhagia, and prolonged bleeding following injury. They do not usually present with deep-seated bleeds seen in patients with hemophilia.
Clinical presentation and family history are important in diagnosis., Preliminary tests include a full blood count (FBC) and clotting profile. Bleeding time may still be used despite its limitation regarding reproducibility and poor sensitivity. However, PFA-100 is the preferred option ahead of bleeding time. For a definitive diagnosis, the quantity of vWF and its various functions have to be assessed.,
| Case Report|| |
A 7-year-old boy presented to the emergency unit of our hospital with a three-day history of progressive cephal-hematoma following a fall, he did not sustain any external injury. However, the parents noticed progressive swelling of the scalp. There was no history of bleeding from any orifice and no history of loss of consciousness. An assessment of head injury secondary to a domestic accident was made by the attending surgeons. Brain CT scan showed normal findings except for the overlying soft tissue swelling [Figure 1].
|Figure 1: Brain CT-Scan showing normal brain tissue with soft tissue swelling|
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Our attention was informally drawn to see him by the mother of one of our hemophilic patients who is their neighbor. She insisted that he shares similar bleeding history with her son. We established a history of prolonged bleeding following injuries, a history of recurrent epistaxis, and a history of menorrhagia in his mother. He was yet to be circumcised and there was no history of hematomas or hemarthroses. He was the only child of his parents. Examination findings revealed massive cephal-hematoma extending to the face, affecting the eyelids revealing early features of exposure keratitis [Figure 2].
Baseline FBC was essentially normal except for features suggestive of Iron deficiency anemia (IDA).
Prothrombin Time and Activated Partial Thromboplastin Time were within normal limits. Results of bleeding time (IVY method) showed prolongation of more than 10 minutes. We do not have the facilities to do other tests. Furthermore, a score of 17 was obtained using IST-SSC Bleeding Assessment Tool (BAT). See [Table 1] for a summary of laboratory findings.
We made a clinical assessment of vWD. We discussed this with his admitting doctors and his parents.
We did not have access to desmopressin and our cold centrifuge was also faulty, making it difficult to produce plasma/cryoprecipitate. He was managed using parenteral tranexamic acid; we gave him 10 mg/kg 6 hourly for a week. In addition, we also transfused “sedimented” red cells and “plasma” at a dose of 15 ml/Kg per day for five days. We produced “plasma” by the use of gravity; fresh whole blood was allowed to stand for 4 hours to allow the plasma to be separated from the red cells. Subsequently, the separated plasma at the top portion of the bag was transferred to an empty blood bag [Figure 3]. The patient remarkably improved and was discharged after 12 days [Figure 4]. He was lost to follow up only for him to be readmitted about a year later due to prolonged post-circumcision bleeding. He was taken to a traditional barber for circumcision. He was treated using the same earlier regimen and was discharged 2 weeks later.
| Discussion|| |
vWD is an inherited bleeding disorder that is inherited predominantly in autosomal dominant (AD) pattern; females are equally affected as males. Type I being the most commonest; constituting about 80%, the main pathology here is a mild decrease in vWF. They present with mild mucocutaneous bleeds and may end up seeking care with ENT surgeons or gynecologists due to recurrent epistaxis and menorrhagia, respectively. Those with type II have similar presentation except for those with type IIN who may additionally present with recurrent hemarthroses and hematomas. The pathology is a defect in the function of vWF. The additional deep-seated bleeds that may be seen in type IIN are due to low levels of FVIII due to its proteolysis following defective binding by vWF. Similarly, patients with type III present as those with type IIN. However, the pathology in type III is a severe decrease in the plasma levels of FVIII.
Definitive diagnosis of vWD requires assessment of both the quantity and the quality of vWF. Diagnosis of types I and III is achieved by assessing the quantity of the vWF, while for the various subtypes of type II, a qualitative analysis of the vWF is needed. While vWF: Ag assesses the quantity of vWF, the quality of vWF is assessed using tests like vWF: RCo, vWF: CB, vWF: FVIIIB binding, and RIPA among others.
Most patients with vWD respond to desmopressin, a synthetic analogue of vasopressin. An intermediate purity FVIII that contains a significant quantity of vWF can also be used. In resource-limited settings, cryoprecipitate which contains a large amount of vWF is still being used.,
This boy presented with cephal-hematoma following trauma with an associated history of recurrent epistaxis and prolonged bleeding when injured. The history of menorrhagia in the mother and the findings of moderate iron deficiency anemia further point to an inherited bleeding disorder. It is therefore logical to suspect type I vWD, which is inherited in AD pattern, also being the commonest inherited bleeding disorder. Due to our obvious limitations, we could not perform the needed tests for diagnosis.
Equally, we did not have access to conventional therapeutic agents. Interestingly, we resorted to using our available resources; we produced “plasma” by allowing a pint of fresh whole blood to stand for about 4 hours. This, together with parenteral tranexamic acid, was used to successfully manage our patient.
Of concern, is the second presentation of the same patient with prolonged post-circumcision bleeding. We became worried, was our counseling not good enough or is it the attitude of the parents? Parents were counseled again and have been attending our outpatient clinic with no major bleeding episodes.
| Conclusion|| |
Although laboratory diagnosis of vWD in our setting is truly difficult, a high index of suspicion and basic history taking as well as the use of ISTH-SSC BAT can lead to the diagnosis. Similarly, despite the possible challenges in getting the desired therapeutic agents, patients can effectively be managed using the available resources.
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
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]