In this article, we will discuss the Clinical Features of Hemophilia. So, let’s get started.
Coagulation disorders arise either due to congenital deficiency of a single factor, e.g. factor VIII in hemophilia A and factor IX in hemophilia B, or due to acquired multiple factors deficiencies secondary to liver disease or anticoagulant therapy. Both hemophilia A and B are uncommon X-linked recessive disorders of coagulation.
Clinical Features
Superficial bruising or bleeding into soft tissue (hematomas) or joint (hemarthrosis) are the hallmarks of haemophilia A. Though a congenital disorder, bleeding is not noticed until babies are about 6 months old (e.g. a period of inactivity), occurs after that period because now the baby is up and about and is prone to trauma. Subcutaneous hematomas may be the earliest manifestation noted in a child as he begins to crawl; followed by bleeding into joints as he starts walking. These bleeding episodes continue throughout life.
The normal factor VIII level is 50-150 % and is usually measured by clotting assay.
Sites of bleeding are:
Spontaneous mucosal bleeding is uncommon and is visible as small swellings (hematomas).
Bleeding into tight compartments of thigh, forearms and legs lead to respective compartmental syndrome due to compression of the neighbouring and underlying structures.
Bleeding into pharynx leads to airway obstruction.
Bleeding into joints (hemarthrosis), occurs spontaneously in severe haemophilia and after trauma in moderate haemophilia. The joints affected are large, i.e. knees, elbows, ankles and hips. A typical patient may have joint bleeding one or two in numbers every week. Recurrent hemarthrosis may lead to synovial hypertrophy, cartilage destruction and secondary osteoarthritis, and ultimately resulting in limitation of movements and making walking difficult.
Bleeding into muscles (hematomas) is a characteristic feature of haemophilia. It can occur in any muscle but calf and psoas muscle are commonly affected. A large psoas bleed may press on the femoral nerve. Calf hematomas are serious because calf being a tight compartment leads to compression of soleus and gastrocnemius muscles. Untreated Achilles hemorrhage causes ischemia, necrosis, fibrosis and subsequent contraction and shortening of Achilles tendon.
Bleeding into CNS though uncommon may cause stroke and unless treated promptly maybe fatal.
Intra-abdominal bleeding (intra retroperitoneal) is uncommon and difficult to quantify and can be large producing hypotension or shock. Large retroperitoneal collection of blood may lead to mass formation (pseudotumor syndrome).
Genitourinary: Hematuria is common. Inhibitor development of factor VIII or factor IX is characterized by new or unusual bleeding episodes that are resistant to treatment.