Dyskeratosis Congenita

Dyskeratosis Congenita (DC) is an inherited bone marrow failure syndrome that develops as a result of defective telomere maintenance, it is therefore categorized as a telomere biology disorder (TBD). The clinical sensitivity and specificity for Flow FISH telomere length analysis have been defined for the diagnosis of DC.

DC can affect every organ system, and symptoms can vary from person to person. Bone marrow failure or aplastic anemia are common primary symptoms that prompt consideration of DC. The classic triad of DC symptoms includes abnormal skin coloration (lace pattern), nail dystrophy and white patches in the mouth (oral leukoplakia). Symptoms may be present at birth, appear in infancy, childhood or adulthood.  The wide range of symptoms and varied presentation can make a diagnosis difficult based on the clinical picture alone. 

Why Test for Telomere Length

Telomere length analysis allows for early identification of individuals who may be at risk and have not yet manifested disease features. A definitive diagnosis is important to enable patient and physician awareness, and regular monitoring for common symptoms and co-morbidities.

TBDs are associated with Low (L) or Very Low (VL) leukocyte telomere length – DC is associated with VL – in several leukocyte subsets and in the presence of specific symptoms and/or significant family history.

The introduction of telomere length diagnostic testing and genetic testing have revealed a growing clinical spectrum of DC-associated TBDs. These include the severe inherited syndromes: Hoyeraal Hreidarsson syndrome, Revesz syndrome and Coats plus syndrome.

Clinical guidelines for the diagnosis and management of DC and TBDs have been developed and are freely available: Dyskeratosis Congenita and Telomere Biology Disorders: Diagnosis and Management Guidelines. These guidelines, authored by a group of TBD clinical experts and researchers, edited by Sharon A. Savage, MD and Elizabeth F. Cook, MD, were published by Team Telomere (previously Dyskeratosis Congenita Outreach Inc.).

CLINICAL STUDY REPORTS

Savage S, A. Dyskeratosis Congenita. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. SourceGeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. 2009 Nov 12 [updated 2019 Nov 21].

Alter B, P., Baerlocher G, M., Savage S, A. et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood. 2007;110(5):1439–1447. doi:10.1182/blood-2007-02-075598.

Ferreira M, S, V., Kirschner M., Halfmeyer I. et al. Comparison of flow-FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathies. Ann N Y Acad Sci. 2019 Oct 24. doi: 10.1111/nyas.14248.

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