Non‐pulmonary CFTR‐related symptom improvement with ivacaftor in p.Phe508del/p.Arg117His (7T) cystic fibrosis

Diagnosis and management of CRMS/CFSPID and cystic fibrosis (CF) with mild phenotypes remains challenging, and this extends to expanding practice with the use of CFTR modulators. We describe a case of an 18‐year‐old man with p.F508del/p.Arg117His(7T) initially presenting with CRMS/CFSPID. He went on to be diagnosed with pancreatic sufficient CF with minimal lung disease. However, he has had significant CFTR‐related symptoms with recurrent pancreatitis and chronic sinusitis. These non‐pulmonary symptoms resolved following introduction of the CFTR modulator ivacaftor. Care for those with mild CF phenotypes, CRMS/CFSPID and those with CFTR‐RD must be individualized, and open dialogue, education and patient centred care is necessary to ascertaining which patients might benefit from management in a multidisciplinary CF clinic and treatment. There may be a role for expanding the use of CFTR modulators to include non‐pulmonary manifestations of CFTR dysfunction in some cases.