Which clinical history 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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Answer

See the list below:

  • Hematomas (seen below), hemarthroses, and mucocutaneous bleeding are spontaneous, secondary to trauma or surgery, or precipitated by the use of antiplatelet drugs.

    Extensive spontaneous abdominal wall hematoma and Extensive spontaneous abdominal wall hematoma and thigh hemorrhage in a previously healthy older man with an acquired factor VIII inhibitor.
    Extensive spontaneous abdominal wall hematoma and Extensive spontaneous abdominal wall hematoma and thigh hemorrhage in a previously healthy older man with an acquired factor VIII inhibitor.
  • Family history of bleeding is consistent with an X-linked recessive disorder; however, approximately one third of persons with hemophilia have no family history of bleeding.

  • In the immediate postnatal period, CNS bleeding can develop following labor and delivery, or excessive bleeding may develop after circumcision.

  • During infancy, easy bruising, frequent hematomas, and bleeding from the oral cavity and lips due to cuts and bites are more common in severe hemophilia. Muscle bleeds develop when the infant starts walking. Joint bleeds develop as physical activity increases.

  • Soft tissue hematomas that dissect through fascial planes can compromise vital organs and lead to major blood loss if they extend into the retroperitoneal space, femoral canal (causing nerve weakness and palsy), or thoracic cavity, or they bleed into the brain.

  • Delayed bleeding, which develops several hours to days after trauma, surgery, or dental extractions, is characteristic of the hemophilias.

  • Crippling arthropathy, examples of which appear below, develops after repeated hemarthroses because of repeated damage to joints and muscles. The most commonly affected joints in order of frequency are the knee, elbow, ankle, hip, shoulder, and wrist. Intraarticular cartilage and adjacent bones are destroyed by synovial proliferation and the release of proteolytic enzymes within the joint as a result of repeated bleeds.

    Older adult man with chronic fused extended knee f Older adult man with chronic fused extended knee following open drainage of right knee bleed many years previously.
    Severe bilateral hemophilic arthropathy and muscle Severe bilateral hemophilic arthropathy and muscle wasting. Three puncture sites demonstrate attempts to aspirate a recent bleed into the knee joint.
    Chronic severe arthritis, fusion, and loss of cart Chronic severe arthritis, fusion, and loss of cartilage and joint space with deformities in the knees. Findings are of advanced hemophilic arthropathy.
    Chronic severe arthritis, fusion, and loss of cart Chronic severe arthritis, fusion, and loss of cartilage and joint space with deformities in the elbow. Findings are of advanced hemophilic arthropathy.
    Hemophilic knee at surgery with synovial prolifera Hemophilic knee at surgery with synovial proliferation caused by repeated bleeding and requiring synovectomy.
    Large amount of vascular synovium removed during k Large amount of vascular synovium removed during knee surgery.
  • Hematuria often is mild but can lead to major blood loss. Renal colic due to a solid blood clot–induced ureteral obstruction can develop when the patient receives FIX concentrates along with fibrinolytic inhibitors to treat hematuria. An underlying structural defect in the genitourinary system should be excluded in patients presenting with hematuria.

  • Mucocutaneous bleeding, such as epistaxis or GI tract bleeding, is common and is accentuated by consuming alcohol or anti-inflammatory drugs and by cirrhosis with portal hypertension.

  • Pseudotumors (illustrated below) are cystic lesions that arise in subperiosteal bone or in soft tissue. Pseudotumors can expand after repeated bleeding and can compress vital organs. They develop gradually over time, can reach an enormous size, and should be treated early by complete surgical excision.

    Intravenous pyelogram showing extreme displacement Intravenous pyelogram showing extreme displacement of the left kidney and ureter by the pseudocyst.
    Dissection of a pseudocyst. Dissection of a pseudocyst.
    Transected pseudocyst with old chocolate brown–bla Transected pseudocyst with old chocolate brown–black blood.
    Large pseudocyst involving left proximal femur. Large pseudocyst involving left proximal femur.
    Transected pseudocyst (following disarticulation o Transected pseudocyst (following disarticulation of the lower left extremity because of vascular compromise, nerve damage, loss of bone, and nonfunctional lower left extremity) showing old black-brown blood, residual muscle, and bone.
  • Neurologic complications arise as a result of intracranial bleeding, bleeding into the spinal canal, and peripheral nerve compression resulting from expanding hematomas.

  • Before the introduction of hepatitis B vaccine, as many as 90% of persons with hemophilia had antibodies to hepatitis B surface antigen, and as many as 15% became long-term carriers. Hepatitis C virus (HCV) seropositivity is common in patients who started treatment before 1985. Thus, chronic hepatitis, progressive cirrhosis, hepatic failure, and hepatocellular carcinoma are more common in individuals with hemophilia who received the less pure earlier products.

  • The seroprevalence of Parvovirus B 19 is approximately 80%. Adults with Parvovirus B 19 infection usually are asymptomatic, but the infection can cause aplastic anemia in immunocompromised hosts.

  • Patients with mild hemophilia may be diagnosed later in life when abnormal bleeding is precipitated by trauma, surgery, or drugs.

  • An increased frequency of bleeding compared with the past or failure to control bleeding with doses effective in the past suggests the development of an inhibitor (alloantibody) to FIX.

  • The frequency of acquired inhibitors to FIX is much less than the frequency of acquired FVIII inhibitors. The onset of a serious bleeding diathesis in a previously hemostatically competent individual (of either sex) and persistent bleeding postsurgery or after trauma are clues to the presence of an acquired inhibitor.


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