Search
telomere disease
Etiology:
- dyskeratosis congenita in children
Pathology:
- more rapid shortening of telomeres with cell division
- aplastic anemia
- pulmonary fibrosis
- liver cirrhosis
- leukoplakia
- reduced telomer length associate with increased overall motality (RR=1.08), cardiovascular mortality (RR=1.09), respiratory mortality (RR=1.40), digestive system mortality (RR=1.26), musculoskeletal mortality (RR=1.51), & COVID-19 mortality (RR=1.15) mortality, but not cancer-related mortality [2]
Management:
- danazole 800 mg daily may be of benefit [1]
Related
telomerase
telomere
Specific
dyskeratosis congenita (Zinsser-Cole-Engman syndrome)
General
chromosomal instability syndrome
References
- Townsley DM et al.
Danazol treatment for telomere diseases.
N Engl J Med 2016 May 19; 374:1922
PMID: 27192671
- Lansdorp PM.
Telomeres on steroids - turning back the mitotic clock?
N Engl J Med 2016 May 19; 374:1978
PMID: 27192677
- Schneider CV, Schneider KM, Teumer A et al
Association of Telomere Length With Risk of Disease and Mortality.
JAMA Intern Med. Published online January 18, 2022
PMID: 35040871
https://jamanetwork.com/journals/jamainternalmedicine/fullarticle/2788295