Table of Contents
Definition / general | Epidemiology | Etiology | Clinical features | Laboratory | Treatment | Differential diagnosis | Additional referencesCite this page: Crookston K, Rosenbaum LS, Gober-Wilcox J. Hereditary bleeding disorders - general. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/coagulationhereditarybleedinggeneral.html. Accessed January 17th, 2021.
Definition / general
- Hereditary bleeding disorders are a diverse group of diseases that include abnormalities of primary and secondary hemostasis
- The most common congenital bleeding disorders include:
- von Willebrand disease
- Hemophilia A (factor VIII deficiency)
- Hemophilia B (factor IX deficiency)
- Less common congenital bleeding disorders include:
- Factor I (fibrinogen) deficiency
- Factor II (prothrombin) deficiency
- Factor V deficiency
- Factor VII deficiency
- Factor X deficiency
- Factor XI deficiency
- Factor XIII deficiency
- Platelet disorders
- Extremely rare disorders include:
- α2-antiplasmin deficiency
- α1-antitrypsin Pittsburgh (Antithrombin III Pittsburgh) deficiency (Haematologica 2009;94:881)
- Combined factor deficiencies: combined factor V and VIII (autosomal recessive, due to mutation in endoplasmic reticulum-Golgi gene ERGIC 53 on #18 that transports these factors), combined factors II, VII, IX and X deficiency (due to mutation in gamma-glutamyl carboxylase gene, whose protein carboxylates glutamate residues in vitamin K-dependent coagulation factors)
Epidemiology
Bleeding disorder | Prevalence | Inheritance pattern | ||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Factor I (fibrinogen) deficiency
More than 200 cases reported
|
| Autosomal recessive Autosomal dominant or recessive Autosomal dominant or recessive Factor II (prothrombin) deficiency
| Less than 100 cases reported
| Autosomal recessive
| Factor V deficiency
| Less than 1 in 1,000,000
| Autosomal recessive
| Factor VII deficiency
| 1 in 500,000
| Autosomal recessive
| Factor VIII deficiency
| 1 in 5000 male births
| X-linked recessive
| Factor IX deficiency
| 1 in 30,000 male births
| X-linked recessive
| Factor X deficiency
| 1 in 500,000
| Autosomal recessive
| Factor XI deficiency
| 4% in Ashkenazi Jews, otherwise rare
| Autosomal recessive
| Factor XIII deficiency
| More than 200 cases reported
| Autosomal recessive
| Combined factor deficiencies
|
> 30 families reported
< 15 families reported
|
| Autosomal recessive Autosomal recessive
a2-antiplasmin deficiency
| > 10 families reported
| Autosomal recessive
| a1-antitrypsin Pittsburgh deficiency
| Only 3 cases reported
| Autosomal dominant
| von Willebrand Disease (VWD)
|
1 in 100
|
| Autosomal dominant Autosomal dominant Autosomal recessive Glanzmann thrombasthenia
| 1 in 1,000,000
| Autosomal recessive
| Bernard-Soulier syndrome
| < 1 in 1,000,000
| Autosomal recessive
| Gray platelet syndrome
| Rare
| Autosomal dominant, recessive or X-linked recessive
| Wiskott-Aldrich syndrome
| 1 in 1,000,000
| X-linked recessive
| |
Etiology
Disorders of Primary Hemostasis |
---|
von Willebrand disease |
Glanzmann thrombasthenia |
Bernard-Soulier syndrome |
Platelet storage pool disease |
Gray platelet syndrome |
Wiskott-Aldrich syndrome |
Disorders of Secondary Hemostasis | ||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Factor I (fibrinogen) abnormalities
Factor II (prothrombin) deficiency
| Factor V deficiency
| Factor VII deficiency
| Factor VIII deficiency (Hemophilia A)
| Factor IX deficiency (Hemophilia B)
| Factor X deficiency
| Factor XI deficiency
| Factor XIII deficiency
| Combined factor deficiencies
| a2-antiplasmin deficiency
| a1-antitrypsin deficiency
| Ehlers-Danlos syndrome
| Osler-Weber-Rendu syndrome
| Scurvy (vitamin C deficiency) | |
Clinical features
Laboratory
Treatment
Differential diagnosis
Additional references