Which physical findings are characteristic of factor IX deficiency (FIX) (hemophilia B)?

Updated: Mar 09, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Srikanth Nagalla, MD, MS, FACP  more...
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See the list below:

  • Severe pain in the target joint(s), bogginess around the involved joint(s) due to an inflamed synovium, presence of blood and fluid, fullness of joint space and/or surrounding bursa, and limitation of joint mobility

  • Deep muscle hematomas with pain, tenderness, and limitation of movement; delayed onset of bleeding from sites of trauma and/or surgery

  • Blood in the urine

  • Blood in the stool

  • Changes in neurologic function, headache, and other neurologic deficits

  • Jaundice, spider angiomas, hepatomegaly, tenderness, splenomegaly, and signs related to chronic hepatitis/cirrhosis

  • Fatigue, poor appetite, and loss of energy with progression of chronic viral illnesses including HIV and HCV infection

  • Weight loss, adenopathy, and opportunistic infections, particularly as a manifestation of AIDS

  • Anaphylaxis occurring early after the start of FIX infusions in children who are severely deficient

  • Of 298 pediatric patients evaluated for perceived bleeding disorders at a major American children's hospital, 8% had von Willebrand disease. [15] About one third had low von Willebrand factor, and 16% had a nonspecific platelet aggregation disorder. A single- and multiple-variable logistic regression analysis showed neither a personal nor family bleeding history at presentation, nor the presence of 2 or more bleeding symptoms being predictive of von Willebrand disease or low von Willebrand factor.

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