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Traumatic Hyphema and Factor XI Deficiency (Hemophilia C)
Arch Ophthalmol. 2001;119:1546-1547.
INTRODUCTION
Hyphema following blunt ocular trauma generally resolves spontaneously. Delay in resolution suggests the presence of coexisting systemic diseases. We present the case of a 6-year-old boy with traumatic hyphema that failed to resolve with standard treatment. Investigations revealed the presence of a rare hereditary coagulopathy, namely, hemophilia C (factor XI deficiency).
Report of a Case
A 6-year-old Omani boy visited our institution with blurred vision following blunt injury to his left eye. He was otherwise healthy; in particular, there was no history in the patient or his family of an unusual bleeding tendency. He was the second child of consanguineous parents.
Ophthalmic examination revealed abnormalities limited to the left eye, which had a visual acuity of 20/60 and a hyphema occupying one third of the anterior chamber. Intraocular pressure (IOP) was 10 mm Hg. Bed rest was advised, and treatment with topical fluoromethalone was administered 4 times daily. The following day, examination showed a visual acuity at light perception and a total hyphema. Intraocular pressure remained normal at 20 mm Hg. The patient was admitted, advised bed rest in a propped-up position, and administered topical dexamethasone twice hourly and 0.5% timolol maleate twice daily. General physical examination revealed no abnormalities. Findings from complete blood cell count tesing were normal, and sickle cell test results were negative.
During the next 2 days, the hyphema showed signs of resolution; however, on the third day, another rebleed occurred and IOP rose to 32 mm Hg. Coagulation studies revealed a normal prothrombin time of 12.6 seconds, with a prolonged activated partial thromboplastin time (aPTT) of 63.4 seconds. Factor assay showed a decreased factor XI level of 8 U/dL (normal range, 40-160 U/dL). The child was given tranexamic acid (25 mg/kg per dose) 3 times daily as well as fresh frozen plasma (10 mL/kg per day) for 5 days.
The hyphema cleared up gradually during the next week, and the patient was discharged with a visual acuity of 20/40 OS. Subsequent follow-up revealed a visual acuity of 20/20 OU, IOP at 12 mm Hg, a clear lens, and a normal fundus.
Coagulation factor analysis in family members revealed that the patient's mother and father had factor XI levels of 39 U/dL and 42 U/dL, respectively.
Comment
Secondary hemorrhage is an important complication of traumatic hyphema that adversely affects visual prognosis.1 Predisposition to rebleeding in patients with hemophilia A (factor VIII deficiency) and sickle cell hemoglobinopathy is well known.2-3 To our knowledge, this is the first report of its association with hemophilia C.
Hemophilia C, also known as Rosenthal syndrome, is an autosomally transmitted disorder found predominantly in Ashkenazi Jews.4 Patients with this condition are usually asymptomatic and do not have spontaneous bleeding. The disorder is often discovered coincidentally, during evaluation of excessive posttraumatic or postoperative bleeding.5 There is often little direct correlation between severity of the disease and factor XI levels; furthermore, bleeding may vary in the same patient after similar challenges.6
Factor XI is a key component of the intrinsic pathway of blood coagulation,7 and its activity is measured by aPTT. Patients with hemophilia C, as was seen in our patient, have a prolonged aPTT in the presence of a normal prothrombin time.
Currently available therapeutic products for genetically deficient patients include fresh frozen plasma (administered at a dose of 15 mL/kg of body weight to achieve a plasma factor XI concentration of approximately 30 U/dL)8 and factor XI concentrates; however, the latter must be used cautiously because of the associated risk of thrombosis.5 Recent reports indicate that desmopressin acetate may be effective in preventing surgical bleeding in factor XI–deficient patients.9 Our patient responded well to treatment with fresh frozen plasma and the antifibrinolytic agent tranexamic acid, administration of which led to cessation of rebleeding and resolution of traumatic hyphema.
Although a routine screening of all children with traumatic hyphema for factor XI deficiency may not be warranted, we recommend that this disorder be ruled out while evaluating patients with recurrent hemorrhage. This would be best accomplished by obtaining a careful medical and family history of bleeding tendency and the patient's aPTT. Early diagnosis and appropriate treatment will ensure resolution without adverse sequelae.
AUTHOR INFORMATION
Nawal Al-Fadhil, MD, MSc;
Anil Pathare, MD
Muscat, Oman
Anuradha Ganesh, MD, MRCOphth
Toronto, Ontario
Corresponding author: Anuradha Ganesh, MD, MRCOphth, Department of Ophthalmology, The Hospital for Sick Children, 555 University Ave, Toronto, Ontario M5G 1X8, Canada (anuradha.ganesh{at}sickkids.on.ca).
REFERENCES
1. Crouch ER Jr, Crouch ER. Management of traumatic hyphema: therapeutic options. J Pediatr Ophthalmol Strabismus. 1999;36:238-250.
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2. Hallet C, Willoughby C, Shafiq A, Kaye SB, Bolton-Maggs PH. Pitfalls in the management of a child with mild hemophilia and a traumatic hyphema. Haemophilia. 2000;6:118-119.
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3. Nasrullah A, Kerr NC. Sickle cell trait as a risk factor for secondary hemorrhage in children with traumatic hyphema. Am J Ophthalmol. 1997;123:783-790.
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4. Seligsohn U. High gene frequency of factor XI (PTA) deficiency in Ashkenazi Jews. Blood. 1978;51:1223-1228.
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5. Mannucci PM, Bauer KA, Santagostino E, et al. Activation of the coagulation cascade after infusion of a factor XI concentrate in congenitally deficient patients. Blood. 1994;84:1314-1319.
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6. Bolton-Maggs PHB, Young-Wang-Yin B, McCraw AH, Slack J, Kernoff PBA. Inheritance and bleeding in factor XI deficiency. Br J Haematol. 1988;69:521-528.
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7. Gailani D. Advances and dilemmas in factor XI. Curr Opin Hematol. 1994;1:347-353.
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8. Weinstock DJ, Schwartz AD. Factor XI deficiency in an Ashkenazi Jewish child, causing severe postoperative hemorrhage. J Pediatr Surg. 1995;30:1746-1747.
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9. Castaman G, Ruggeri M, Rodeghiero F. Clinical usefulness of desmopressin for prevention of surgical bleeding in patients with symptomatic heterozygous factor XI deficiency. Br J Haematol. 1996;94:168-170.
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