Case Presentation:
A 5‐day‐old male infant born after 38 weeks' gestation presented to the emergency department with hyperbilirubinemia (total bilirubin level 29.8 mg/dL) and anemia (hemoglobin 10.6 g/dL). His other blood indices were normal (white blood cells 10,400, platelets 177,000). On initial exam, he was noted to have ecchymoses around his left eye and left thigh and hematomas behind his left ear and groin; these were attributed to trauma related to vaginal delivery and routine injections at birth. Ongoing evaluation showed persistent oozing at phlebotomy sites, so coagulation studies were ordered. His prolonged activated partial thromboplastin time (96.5 seconds), despite a vitamin K injection at birth, aroused suspicions of hemophilia, especially given his male sex. Asubsequent factor VIII assay showed his factor VIII level was less than 1%, and the infant was diagnosed with hemophilia A, severe type. Recombinant factor infusions were initiated, and his anemia and bleeding were stabilized. His hyperbilirubinemia was successfully managed with phototherapy and hydration. He was discharged home in stable condition with scheduled factor infusions.
Discussion:
Hemophilia A is an X‐linked disorder, caused by a deficiency in factor VIII. Its incidence is approximately 1 in 5000 male births. It can be diagnosed prenatally when family history is known, but this accounts for only a little more than half of affected male infants. Alternatively, the condition is identified on presentation of bleeding symptoms in the first year of life; age at diagnosis is directly related to the level of factor VIII. Infants suspected to be affected with hemophilia A may also be evaluated for hemophilia B, von Willebrand disease, other factor deficiencies, platelet function disorders, and fibrinogen disorders. Therapy consists of factor infusions, both for acute events and as prophylaxis. Despite advances in therapy and coordination of interdisciplinary care, affected individuals continue to suffer disabling and disfiguring bleeds. Severe hemophiliacs are particularly vulnerable to the development of inhibitory antibodies against foreign factor proteins and must undergo desensitization with repeated factor infusions.
Conclusions:
Hyperbilirubinemia is a common cause of hospital admissions of newborns. Although the cause of hyperbilirubinemia is usually benign and self‐limiting, there is always a large differential diagnosis. Atypical presenting signs and symptoms, such as significant anemia or bleeding as in this case, should encourage further evaluation. Hemophilia is generally suspected in the context of bleeding or family history. However, infants may present unexpectedly with signs and symptoms mistaken for birth trauma. Accordingly, inherited coagulation defects should be considered in this young population when there is concomitant hyperbilirubinemia and anemia, along with an abnormal physical examination.
Author Disclosure:
N. S. Paulose, None; D. Hart, None; D.A. Rauch, Baxter, consulting fees or other remuneration (payment).