Telomere Biology Disorders

Telomere biology disorders are inherited conditions that can cause bone marrow failure as well as additional medical conditions affecting many other organs. The most widely recognized telomere biology disorder is known as dyskeratosis congenita (DC), though bone marrow failure specialists and researchers now recognize that only a fraction of patients with telomere biology disorders will have the typical features of DC.  Telomere biology diseases are associated with greatly increased predisposition to a variety of cancers, including leukemia and head/neck cancer. 

Consensus guidelines recommend that patients with telomere biology diseases should receive care in expert centers familiar with both the varied manifestations of these diseases, as well as with recommended screening guidelines for cancer and organ dysfunction. Novel approaches to treatment of bone marrow failure that reduce side effects of treatment are actively being studied, as are potential approaches to improve disease complications outside of the bone marrow.