Group of disorders related to a telomeric shortening as a result of a genetic mutation or ageing.

The telomere is a DNA repetitive, usually non-coding, region located at the end of a chromosome. The shortening of the  telomeres is related to cell division: due to the inability of the DNA polymerases to replicate the ends of linear chromosomes, a loss of genetic material occurs at each cycle of DNA replication. Telomerase is an enzyme that promotes the elongation of telomeres. Telomerase is active in the stem cells, the germ cells, the hair follicles, and in 90 % of cancer cells, but its expression is low or absent in the somatic cells.

The genetic forms can be divided in (see these terms):

       -      classic form:

                       ♦        congenital dyskeratosis due to a mutation of telomerase

       -       severe variants:

♦        Revesz syndrome: mutation of the TINF2 gene

♦        Hoyeraal-Heirdarsonn syndrome: mutation of the DKC1 gene

       -        cryptic variants:

                       ♦        idiopathic pulmonary fibrosis: family origin,        

                               as a result of a mutation of the TERC, TERT or RTEL1 genes

                       ♦        medullar aplasia

                       ♦        myelodysplasia

                       ♦        acute myeloid leukemia

                       ♦        cryptogenic cirrhosis

Anesthetic implications:

according to the syndrome

References : 

Updated: December 2018