Clinical Aspects of the Disease

Hemophilia is a sex-linked bleeding disorder that affects 1 in 5000 males and 1 in 5 million females worldwide. Hemophilic persons are deficient in either factor VIII (FVIII) or factor IX (FIX) coagulation proteins. Historically, these two forms are known as hemophilia A, or "classic hemophilia," and hemophilia B, or "Christmas disease," respectively. Other proteins or factors can also be deficient, leading to a bleeding tendency or a frank bleeding disorder. A brief summary of hereditary bleeding disorders follows at the end of this case. All bleeding disorders require a thorough workup in order to properly administer therapy, which is specific to each disorder.

Factor VIII deficiency is 6 times more common than factor IX deficiency, but the two are clinically indistinguishable. Because of the diversity in genetic mutations, there is a wide range of clinical severity in both types of hemophilia. Persons with FVIII or FIX activities <40% are considered hemophilic. They are classified according to the percent of circulating active FVIII or FIX in venous blood samples, which corresponds to three clinical phenotypes: mild (6-40%), moderate (1-5%), or severe (< 1% or undec-tectable). The bleeding diathesis is lifelong, and the type and frequency of bleeding complications are consistent within each class. The phenotypic expression of hemophilia is constant throughout the life of an individual and is similar in all affected members of a given family. Characteristic for all forms of hemophilia is the lack of excessive bleeding from superficial cuts, due to normal primary hemostasis achieved by platelets and vWF.

The differences among the clinical pictures of severe and mild hemophilia are remarkable (see Table 61.1). A severely affected hemophilic patient, like the infant described above, shows hemorrhagic diathesis during the neonatal period. In about 50% of unanticipated patients, the first bleeding episode occurs at the time of circumcision. Later in life,

Table 61.1 Clinical Forms of Hemophilia

Severity (% of normal) aPTT (sec) Clinical manifestations

Table 61.1 Clinical Forms of Hemophilia

Severity (% of normal) aPTT (sec) Clinical manifestations

Severe (<1%)

>65

Severe bleeding into skin, joints, muscles, often with a delayed onset, may occur even after unrecognized trauma; the disorder is usually evident in the first year of life; prophylactic therapy is recommended to prevent and arrest hemorrhage

Moderate (1-5%)

50-65

Extensive bleeding occurs after trauma, but spontaneous bleeding and hemarthrosis are less common; the need for replacement varies from sporadic to relatively frequent

Mild (6-40%)

35-45

Absence of spontaneous bleeding; excessive bleeding occurs only after major trauma or surgery; the patient may remain undiagnosed for several years

untreated severe hemophilic patients experience around 15 bleeding episodes per year into joints and muscles, which leads to debilitating arthropathy. In contrast, a mildly affected patient may remain free of serious bleeding for a long period of time and is seldom diagnosed before adolescence or early adulthood. This woman expresses a phenotype that falls in between the extremes. She was diagnosed in childhood, experiences hemarthrosis and intramuscular bleeding at irregular intervals, usually after an identifiable trauma, and does not suffer from spontaneous hemorrhage. In addition, she is also susceptible to intraabdominal bleeding from ovulation.

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