Cystic Fibrosis (CF) can be diagnosed in adulthood and it is never too late to take it into consideration. The aim of our retrospective analysis is to describe a population of patients with CF (pwCF) and CFTR-related disorders(pwCFTR-RD) in follow up at our adult CF Centre who were grandparents in 2022.
Our study population consists in 8 patients(pt) -6F(2pwCFTR-RD);2M(1pwCFTR-RD)- diagnosed in adulthood with a 20-year-average delay from the onset of symptoms [6-37], mainly respiratory.At diagnosis: mean age 57yrs [32-74]; Cl-sweat test 72 mEq/l [43-133]; CFTR genotype with a residual function mutation; mean FEV1pp85 [40-109]; respiratory infection by S.aureus in 4, P. aeruginosa in 5, Non Tuberculous Mycobacterial in 2; pancreatic insufficiency in 3. At the time of diagnosis, they all had healthy children (mean 2/pt [1-3]) and 5 pt had already become grandparents (grandchildren negative at neonatal screening for CF).Female pt had spontaneous pregnancies, one male had two adoptive children and the other had undergone PMA. Out of the 14 biological children, 11 underwent genetic analysis (resulting CF carriers) while 3 refused. All grandchildren (current mean age 10yrs [1-26]) resulted negative at CF neonatal screening and have been informed to proceed to genetic counseling before procreation.Mean age of CF grandparents is now 69 yrs (62-76),3 are on modulators,1 deceased for respiratory insufficiency.
Our data show that,although patients had been symptomatic for years,the delay in diagnosis was so significant that they became parents and even grandparents before being recognized as CF. This proves that, as the epidemiology has been changing, being grandparent affected by CF is a new social and familiar aspect to be considered.