Disorders that affect any of the coagulation factors besides FVIII, FIX and VWF are called rare bleeding disorders because they are less prevalent than haemophilia or VWD.

Below you will find a table of information on rare bleeding disorders.

People affected by rare bleeding disorders in Europe are faced with many issues including a lack of diagnosis and treatment. In fact, only a few specialised centres in Europe have the resources and the expertise to diagnose rare bleeding disorders. Furthermore, for many of these disorders there are no treatments available. This is because these conditions are so rare that it is difficult to develop products and run clinical trials. Moreover, once the product is developed, it may not be commercially attractive to market. This is why many people with rare bleeding disorders are still relying on completely inadequate treatments such as Fresh Frozen Plasma and Cryoprecipitate.

Characteristics of Rare Bleeding Disorders

(Also known as Rare Clotting Factor Deficiencies)

Missing Factor

Incidence*

Inheritance

Severity of Bleeding

Treatment

Factor I

Afibrogenemia

Hypofibrogenemia

Dysfibrogenemia

5 in 10 million

Not available

1 in 1 million

Autosomal recessive

Recessive or dominant

Recessive or dominant

Usually mild, except in Afibrogenemia

Figrinogen concentrate

Cryoprecipitate

Fresh frozen plasma

Factor II

1 in 2 million

Autosomal recessive**

Usually mild

Prothrombin complex concentrate

Fresh frozen plasma

Factor V

1 in 1 million

Autosomal recessive

Usually mild

Fresh frozen plasma

Combined factor V and factor VIII

1 in 1 million+

Autosomal recessive++

Usually mild

Fresh frozen plasma

Factor VIII concentrate

Desmopressin

Factor VII

1 in 500,000

Autosomal recessive**

Severe when factor levels are low

Recombinant factor VIIa concentrate

Factor VII concentrate

Prothrombin complex concentrate

Fresh frozen plasma

Factor X

1 in 1 million

Autosomal recessive

Moderate to severe when factor levels are low

Prothrombin complex concentrate

Fresh frozen plasma

Combined deficiency of vitamin K-dependent clotting factor

Not available

Autosomal recessive**

Usually mild but a few families have reported very low levels and more severe symptoms

Vitamin K

Prothrombin complex concentrate

Fresh frozen plasma

Factor XI

1 in 100,000

Recessive or dominant

Mild to moderate when factor levels are low

Factor IX concentrate

Antifibrinolytic drug

Fibrin glue

Fresh frozen plasma

Factor XIII

1 in 3 million

Autosomal recessive

Severe

Factor XIII concentrate

Cryoprecipitate

Fresh frozen plasma

“*” estimates only
“**” Can be acquired later in life because of another medical condition, certain medication, etc.
“+” 1 in 100,000 in some populations, including Israel, Iran, Italy
“++” very rarely, factor VIII deficiency can be inherited separately from only one parent

Resources:

For more detailed information regarding each disorder, we advise you to consult the website of the World Federation of Haemophilia.

Informations about the disease, ongoing clinical trials, available products and registries can be found for each disorder on the website of Orpha.net. The website provides information in English, French, German, Italian, Dutch, Portuguese and Spanish.

We also recommend that you consult the booklet on “Rare Bleeding Disorders” from the Irish Haemophilia Society and read the proceedings of the EHC Round Table on: “Rare Bleeding Disorders” held in March 2014.

The Rare Bleeding Disorders Database (Pro-RBDD), a component of the EUHANET Project.

The booklet developed by the European Network of Rare Bleeding Disorders.