Clinical Features

Although clinical descriptions consistent with hemophilia have been found in ancient texts, the term hemophilia was not used until 1928, and factor IX deficiency was not described as a cause of hemophilia until the 1950s by Aggler et al.[2] (using the term PTC deficiency) and Biggs et al., who used the term Christmas Factor deficiency after the surname of their index patient.[3] This disorder is now commonly known as hemophilia B. The clinical severity of hemophilia B can largely be predicted from the circulating procoagulant plasma level of factor IX (FIX:C) and these levels remain constant through generations of affected individuals in each family. The severity of hemophilia B can be classified by comparing plasma factor IX levels against a standard that has a value of 1.0 u/mL (100%) (Fig. 1).

Individuals with severe hemophilia B usually have a serious, life-threatening bleeding tendency characterized by spontaneous hemorrhage, excessive bruising/bleeding after trauma, and a requirement for regular replacement therapy. In those with moderate and mild hemophilia, spontaneous bleeding is rare, sequelae of trauma are less serious, and the need for replacement therapy is reduced.

In children with severe hemophilia, the bleeding tendency may first manifest as excessive bruising and hematoma formation when crawling or attempting to walk. When there has been no preexisting history of hemophilia in the family (around 30% of cases), the diagnosis may be made during assessment of the child for nonaccidental injury or after trauma such as circumcision.

The hallmark of severe hemophilia is hemorrhage into large joints (hemarthrosis). The ankles, knees, and elbows are most often affected, and when this occurs, patients may experience premonitory symptoms such as tingling followed by painful swelling of the joint leading to impaired movement. Recurrent hemathroses lead to inflammatory changes in the synovium and destructive changes in cartilage. This may result in total destruction of the joint, marked deformity, and disability. Muscle bleeding may also be an important cause of morbidity such as the classic iliopsoas muscle hematoma, which may cause painful flexion of the hip and compression of the femoral nerve. Bleeding may occur in any part of the body; gastrointestinal, intracranial, and genitourinary bleeds are well-recognized features of hemophilia.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook

Post a comment