Bilateral hemorrhagic proptosis due to an uncommon cause in ocular emergency.

A 19-year-old male patient presented to the ocular emergency services with sudden onset of proptosis, pain, and bloody discharge. Further evaluation revealed bilateral visual acuity of finger counting close to face vision with an accurate projection of rays. Computed tomography scan of the head and orbit revealed diffuse orbital hemorrhage (mainly along the ocular coats) in the absence of any subperiosteal or intracranial hemorrhage. A complete hematological workup was done and it revealed decreased factor IX levels (9% of normal) consistent with hemophilia B (Christmas disease). The patient was managed medically with factor IX supplementation. At the end of 6 weeks, patient's visual acuity improved to 20/20 in both the eyes.

Hemophilia is an X-linked bleeding disorder with an incidence of 1 in 5000 males.[1] It is mainly of two types, Hemophilia A is caused by a deficiency of factor VIII, and hemophilia B (Christmas disease) is due to deficiency of factor IX.[1] Ophthalmic manifestations of these diseases are common. Here, in this report, the clinical manifestations, investigational difficulties, and the importance of timely management to achieve optimal outcome in a patient with hemophilia B have been discussed.

Case Report

A 19-year-old male patient was brought by his parents to our ocular emergency department with a history of sudden onset painful loss of vision along with conjunctival redness, bleeding, and proptosis in both the eyes for about 12 h in the absence of any preceding history of trauma [Fig. 1a]. Previous records revealed an isolated episode of bleeding over the left elbow joint at the age of 5 years, which subsided without any medical intervention. Following this, the patient remained symptom-free for about 14 years. However, the patient was not compliant with further investigations and follow-up.

Figure 1

(a) Clinical picture at presentation showing bilateral severe proptosis and, ptosis along with global restriction of extraocular motility and conjunctival hemorrhage. (b and c) Coronal and axial views of the noncontrast computed tomography of the orbit showing diffuse intraorbital hemorrhage with prominent collection around the posterior ocular coats as well as preseptal compartment. (d) Clinical pictures at 6 weeks revealing essentially normal anterior and posterior segments in both the eyes

On presentation to our ocular emergency, examination revealed bilateral proptosis with severe conjunctival hemorrhage, being more severe in the left eye. The extraocular motility was severely restricted in all gazes in both the eyes, but the pupils remained briskly reactive. Visual acuity was recorded as finger counting close to face with accurate projection of rays in both the eyes, and both the eyes had raised intraocular pressures (noted digitally). Bilateral inferior corneal exposure was noted; rest of the anterior segment details were within normal limits. Fundus examination using direct ophthalmoscopy was within normal limits in both eyes.

The patient was initially managed with immediate patching of both the eyes along with frequent lubrication, and subsequently, the investigations including a hematological workup and computed tomography (CT) scan were carried out. No immediate surgical intervention was performed due to the obvious risks involved with an invasive procedure in a patient with a suspected coagulation disorder. CT scan of head and orbit demonstrated a diffuse intraorbital hemorrhage with a dense collection noted around the ocular coats and the preseptal compartment but without any intracranial bleed [Fig. 1b and c].

Meanwhile, the blood investigations revealed the following findings: hemoglobin – 13.4%, total leukocyte count – 5700/mm3, platelets – 2 07,000/mm3, prothrombin time (PT) – 12.6 s, and activated partial thromboplastin time (APTT)- >1 min. Thus, based on the observations of prolonged APTT along with a previous history of bleeding, the diagnosis was pointing toward a possible bleeding disorder. The patient was further evaluated for factor VIII and factor IX levels. The results revealed normal factor VIII levels along with significantly decreased factor IX levels (9% of the normal). A diagnosis of hemophilia B was made and the patient was started on injection mannitol 5 ml/kg body weight once daily for 3 days, injection methylprednisolone 40 mg once daily for 3 days, injection Factor IX 3000 units IV for 7 days, oral amoxicillin and clavulanic acid 625 mg thrice a day for 7 days, oral acetazolamide 250 mg thrice a day for 3 days, topical brimonidine + timolol maleate eye drop twice a day for 5 days, and frequent lubricants both as drops and gel formulation for about 6 weeks. At the end of 6 weeks, patient's visual acuity improved to 20/20 in both the eyes [Fig. 1d] and he remained asymptomatic for 24 months.

Discussion

The normal serum levels of factor IX vary from 50% to 150%; the risk of bleeding and further complications increases, when the serum level falls below 40% of the normal values. To grade the severity, the critical levels can be designated as mild when the blood levels are between 5% and 30%, moderate between 1% and 5%, and severe if <1% of the normal.[2] The frequently seen bleeding manifestations are usually nonophthalmic, but the common ocular complications include asymptomatic orbital or periorbital hemorrhage, subconjunctival hemorrhage, and postoperative bleeding leading to a retrospective diagnosis.[3] Similarly, several other disorders such as anemia due to various causes, thrombocytopenia, leukemia, and oral anticoagulants therapy may present as ocular or orbital hemorrhage; thus, systematic consideration of all these diseases is of paramount importance to conclude a correct diagnosis.[4]

Orbital haemorrhage which is spontaneous in nature and not associated with any preceding orbital trauma are commonly referred by a common terminology, that is nontraumatic orbital hemorrhage (NTOH). First, based on the anatomic location, the NTOH can be classified as diffuse intraorbital, localized intraorbital, and subperiosteal, either related to extraocular muscles or to orbital implants. Second, as per the underlying etiology, it can be due to vascular lesions, increased intracranial venous pressure, bleeding disorder, infection, inflammation, and neoplasms.[4] All of the above diverse etiologies must, therefore, be kept in mind when dealing with a case of orbital hemorrhage in an ocular emergency setup.

Rubenstein et al., in an observation involving 123 hemophiliacs, noted orbital complications in 25 patients and all the patients were managed medically with treatment of the underlying pathology, i.e., coagulation profile stabilization.[3] Surgical intervention is rarely needed in these cases. Guirgis et al. discussed a case where a patient with severe subperiosteal hematoma underwent orbital decompression along with coagulation profile stabilization.[5] Other lesser-known ocular involvements in hemophilia B such as a case of spontaneous hyphema in an infant have been reported.[6]

Conclusion

Bilateral spontaneous hemorrhage in the present case occurred due to an underlying bleeding diathesis and hemophilia B, which remained asymptomatic for a significant period of time before presenting in a rather uncommon fashion. Bilateral hemorrhagic proptosis developed in the absence of any identifiable aggravating factor in both the elicited history and our clinical evaluation. Maintaining a reasonably high suspicion for the probable diagnoses helped in instituting appropriate and timely treatment for the patient.

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

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Conflicts of interest

There are no conflicts of interest.