POST-OP BLEEDING IN A PATIENT WITH NOONAN SYNDROME AND FACTOR XIII DEFICIENCY: A CASE STUDY

Background: Factor XIII, also known as fibrin stabilizing factor, strengthens the final stages of hemostasis. It plays a pivotal role in angiogenesis, maintenance of pregnancy, wound healing, bone metabolism and cardio protection. A deficiency in this factor is inherited in an autosomal recessive fashion or an antibody against the factor can be developed. Noonan syndrome is a common genetic abnormality that is characterized by webbed neck, short stature, characteristic facies, congenital heart defects, and developmental delay. It is inherited in an autosomal dominant fashion. Commonly, patients with this disease present with a proclivity for bleeding diathesis due to platelet and coagulation factor abnormalities. Case Information: We present a 13-year old boy with known Noonan syndrome who experienced profuse bleeding from the left ear and a large hematoma formation after an otologic procedure. Although Noonan patients are known to experience bleeding complications, our patient had undergone various surgical procedures without prior hemorrhagic events. Due to retained ear tubes and chronic suppurative otitis media, the patient developed conductive hearing loss and was recommended to receive surgical intervention. The patient presented the following day to the emergency department with bleeding from the left ear and hematoma of the left side of his face and neck. He was discharged after bleeding was stopped; but once home, the bleeding started again, and he was re-admitted for an exploratory exam under general anesthesia. Diffuse oozing was discovered, and a platelet transfusion was provided to stop the bleeding. A bleeding disorder workup was sent including a factor XIII activity assay. Preliminary coagulation tests proved normal, however factor XIII deficiency was confirmed. Conclusions: This is the first described case of factor XIII deficiency presenting in a patient with Noonan syndrome. Noonan patients have a proclivity for bleeding diathesis, but much more commonly due to other factor and platelet abnormalities. Noonan syndrome is common enough that many clinicians and surgeons will see these patients in their practice. It is important to be aware of the common bleeding disorders associated with Noonan syndrome, but also to be aware that they can have other rare bleeding disorders despite normal basic coagulation tests.