A 5-year-old boy is brought to the emergency department by his mother's boyfriend for evaluation of thigh pain. This morning, the patient bumped into the edge of a table in the living room and now has swelling and pain in the right thigh. Family history is significant for a maternal uncle who died after developing intracranial hemorrhages from a minor head injury last year. Examination shows an uncomfortable-appearing boy with marked ecchymoses and swelling over the right quadriceps. Which of the following will most likely be found on further history and examination of this patient?
Hemophilia A & B | |
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This patient's thigh hematoma after minor trauma and family history of a bleeding disorder in a maternal uncle are concerning for hemophilia. Hemophilia is an X-linked recessive bleeding disorder due to deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B). The most common sites of bleeding are the joints (80%), especially the knee. Hemarthrosis presents with joint pain and swelling after minimal or no trauma, and episodes typically begin during toddlerhood when the child is ambulatory. Hemorrhage into the skeletal muscle (ie, hematoma) after minor trauma is also common.
Characteristic laboratory findings include a prolonged PTT and decreased or absent factor VIII or IX activity. Treatment involves replacing the missing factor with a recombinant or purified product.
(Choice B) Posterior rib fractures are a red flag for child abuse. However, bruising on an extremity, as seen in this child, is often unintentional. Suspicious bruises include those that are patterned (eg, belt buckle, hand) or located on the neck, ear, torso, and buttocks.
(Choice C) Petechiae (pinpoint red spots) are a result of broken capillaries and are associated with platelet disorders. Platelet disorders can present with mucosal bleeding but do not typically cause bleeding into muscle.
(Choice D) Red papules on the trunk and lips represent cutaneous arteriovenous malformations. They can be seen in hereditary telangiectasia, an autosomal dominant disorder characterized by recurrent epistaxis and telangiectasias. Patients with hereditary telangiectasia are not predisposed to skeletal muscle hematomas.
(Choice E) Heavy menstrual bleeding is common in women with von Willebrand disease. Abnormalities in platelet plug formation lead to prolonged mucosal bleeding (eg, oropharyngeal, gastrointestinal, uterine), but bleeding into deep tissue is not seen.
Educational objective:
Hemophilia is an X-linked recessive bleeding disorder that can present with recurrent hemarthrosis and skeletal muscle hematoma after minor trauma.