Just as deficiency of certain players in the coagulation cascade leads to a thrombotic tendency, deficiencies in other coagulation factors leads toward a tendency to bleed. In the normal physiologic state, factors XIa, VIIa, IXa Va, Xa, VIIa, and thrombin are procoagulants. Antithrombin III, Proteins C & S, thrombomodulin, and plasmin function as anticoagulants. Deficiencies in any of the procoagulants can lead to a state where there is a propensity to bleed. The table below summarizes the major inherited bleeding disorders.
Coagulation Protein Deficiency |
Inheritance Pattern |
Prevalence |
|
Factor I (fibrinogen) Afibrinogenemia Hypofibrinogenemia Dysfibrinogenemia |
Autosomal recessive Autosomal dominant or recessive Autosomal dominant or recessive |
Rare (<300 families reported) Extremely rare Rare (>200 types reported) |
|
Factor II (prothrombin) |
Autosomal dominant or recessive |
Extremely rare |
|
Factor V |
Autosomal recessive |
1 in 1 million births |
|
Factor VII |
Autosomal recessive |
1 in 500,000 births |
|
|
X-linked recessive Acquired |
1 in 5,000 male births |
|
X-linked recessive |
1 in 30,000 male births |
|
|
Factor X |
Autosomal recessive |
1 in 500,000 births |
|
Autosomal dominant |
4% of Askenazi Jews, otherwise rare |
|
|
Factor XIII |
Autosomal recessive |
1 in several million births |
Deficiencies of Factor VIII, IX, and XI are the most common inherited bleeding disorders and will be discussed in greater detail. There is yet another inherited bleeding disorder. This is vonWillebrand Disease, which is a deficiency of vonWillebrand Factor. Technically, this does not involve the coagulation cascade directly, but vonWillebrand Factor is a key player in the formation of a platelet plug.
You may jump to a particular deficiency among those mentioned by clicking it on the table above
