[MIM 277 700]

(Adult Progeria)

Very rare: prevalence estimated at 1/200.00 but more frequent in populations of Sardinian or Japanese origin (1/50.0000). A disease that causes a premature aging that becomes apparent around the age of 20 years. In 90% of cases, autosomal recessive transmission of mutations of the RECQL2 (8p12) gene coding for a protein of the human helicases family. In the other cases, mutations of the LMNA gene (1q22) are concerned. Other mutations of the LMNA gene are responsible for progeria, some forms of cardiomyopathy, some forms of Charcot-Marie disease.

Clinical presentation:

-        short stature by lack of pubertal growth spurt

-        bilateral cataracts, bird-like face

-        thin prematurely gray hair

-        skin diseases associated with aging: subcutaneous atrophy, hyperkeratosis, tumors, melanoma without exposure to the sun

-        diabetes, early atherosclerosis

-        osteoporosis

Anesthetic implications:

cardiovascular evaluation for early atherosclerosis; premature aging of various systems of the body, risk of tumor.

References:

-        You AH, Koo IH, Choi J-H, Kang YH
General anesthesia for old Werner syndrome patient: a case report.
Brazil J of Anesthesiol 2022;72 :407-10

Updated: November 2022