Autosomal Dominant Bleeding Disorders

Diagnosis and Prevalence

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant rare bleeding disorder with an estimated prevalence of approximately 1 in 5000 persons worldwide 1
HHT is characterized by vascular malformations (VMs) that result in chronic bleeding, epistaxis, and complications from shunting through these malformations 2
The American College of Physicians recommends that in 97% of patients with a definite clinical diagnosis of HHT, a causative mutation is identified in one of these genes: endoglin (ENG, HHT type 1), activin receptor-like kinase-1 (ACVRL1, HHT type 2), and SMAD4 (juvenile polyposis-HHT overlap) 3
The most common symptom of HHT is epistaxis (nosebleeds), occurring in more than 90% of adults with the condition 4

Von Willebrand Disease (VWD) is the most common inherited bleeding disorder, affecting up to 1% of the U.S. and world populations, according to the American Society of Hematology 5
Type 2 VWD (qualitative deficiency) has four subtypes (2A, 2B, 2M, 2N) and is characterized by dysfunctional von Willebrand factor 5
The National Hemophilia Foundation states that Type 2 VWD is inherited in an autosomal dominant pattern, except for Type 2N which is autosomal recessive 5

A comprehensive bleeding assessment should be performed when evaluating patients with suspected autosomal dominant bleeding disorders, including questions about epistaxis, easy bruising, mucosal bleeding, and family history, as recommended by the American Journal of Hematology 5
Genetic testing is increasingly important for accurate diagnosis and family screening in autosomal dominant bleeding disorders, according to the Annals of Internal Medicine 3 and the American College of Medical Genetics 1

Management of HHT has evolved significantly with the introduction of antiangiogenic therapies to eliminate bleeding telangiectasias and achieve hemostasis, as reported in the journal Blood 2
The American Society of Hematology recommends systemic therapies including antiangiogenics (bevacizumab) and antifibrinolytics (tranexamic acid) as standard treatment options for bleeding in HHT 4
For VWD, treatment approaches include desmopressin, VWF replacement therapy, antifibrinolytics, and hormonal treatments for menorrhagia, according to the American Journal of Hematology 5