Hemophilia refers to a group of disorders that affect the blood’s clotting ability or coagulation. Coagulation is required to prevent bleeding in the event of a blood vessel breaking. The most common form of hemophilia is hemophilia A, which arises from a deficiency in clotting factor VIII. Around 1 in 5,000 to 10,000 males are born with this condition.
The main symptoms of hemophilia are internal or external bleeding, symptoms which vary according to the severity of the condition. People with a severe form of the condition may experience severe, frequent and spontaneous bleeding into their muscles and joints, while those with a mild form may only experience excess bleeding in response to trauma or injury.
Either way, the problems this bleeding can cause are similar to those seen in other diseases and these need to be excluded before a diagnosis of haemophilia can be confirmed.
Other conditions to take into consideration in a suspected case of hemophilia are described below.
The bleeding symptoms seen in von Willebrand disease can be similar to those observed in mild congenital hemophilia. However, patients with von Willebrand disease are more likely to have more mucosal bleeding. This condition can be diagnosed using various tests including checking for von Willebrand factor (VWF) antigen or VWF multimers.
In cases of platelet dysfunction, the bleeding tends to be mucocutaneous rather than mucoskeletal as is the case in hemophilia. For most platelet disorders, the diagnostic test of choice is platelet aggregation studies. Platelet agonists such as collagen, ADP, epinephrine and ristocetin are tested to assess the aggregation of platelets by determining optical density. Platelet electron microscopy is another option, which can be used to assess the ultastructure of the platelet.
In other coagulation factor deficiencies, musculoskeletal bleeding is uncommon. Thrombosis can sometimes occur in people with a factor VII or fibrinogen deficiency and a combined deficiency in factor V and VIII may also be mistaken for hemophilia A. Differential diagnosis is achieved by carrying out specific coagulation factor assays.
The bleeding that occurs in scurvy is generally mucosal rather than mucoskeletal and conditions such as sepsis, HIV, pancreatitis or malnutrition may be present. The diagnosis of scurvy is based on clinical findings and the presence of vitamin C deficiency.
In Ehlers-Danlos syndrome, bleeding is mainly mucosal in origin rather than musculoskeletal. The skin is hyperextensible and hypermobility syndrome is present. This condition can be diagnosed based on clinical features, tissue biopsy and genetic testing.
Bleeding is mainly mucosal rather than musculoskeletal and other conditions that may be present include kidney disease, heart disease, skin lesions called angiokeratomas, and pain in the extremities. Diagnosis is based on genetic testing and clinical findings.
There are no symptoms or signs that can distinguish disseminated intravascular coagulation from hemophilia, but the condition is caused by acute promelocytic leukemia. Differential diagnosis is achieved using blood tests, which reveal a reduced platelet count and an absence of factor VIII autoantibodies.
It is typical to find inconsistency in the history of how trauma has occurred. The healing process may vary across injuries and burns, bone fractures and bruises may be present. Anemia may be present in cases or malnourishment or neglect. X-ray may reveal evidence of fractures or bleeding in the brain or abdomen.