Context

Cystic fibrosis (CF) is the most common lethal genetic disease in white populations [1]. There are over 10,500 patients with the disease in the UK, of which over 60% are over the age of 16 [2].

Improvements in the care of patients with CF over the past 30 years means that most now survive well into adulthood, with the current median age at death approaching 32 years and with a predicted survival of almost 47 years [2]. It is estimated that a child born today with CF will typically live to be 50 or more [3].

Most patients with CF have been diagnosed under the age of 16, with a median age at diagnosis of 23 days with nearly 28% being diagnosed at newborn screening.  Older patients are being diagnosed with CF more frequently, with over 8.5% of new diagnoses being made in patients over the age of 16. The diagnosis of CF in children and young adults is confirmed by sweat testing and in adults by gene testing for CF[2]. As a group, adults with CF have more severe pulmonary disease and are at higher risk of serious complications [4].

Most common presentations triggering investigations for CF apart from new born screening are:

(a) Abnormal stools or malabsorption

(b) Malnutrition or failure to thrive

(c) persistent/ recurrent respiratory infections.

(d) Other triggers for CF testing may be a positive family history, signs of Distal intestine obstruction syndrome (see later), chronic sinus disease, obstructive azoospermia (over 12 years of age), pancreatitis, pseudo Bartter’s syndrome, rectal prolapse (under 12 years of age).

(e) Rare instances include a specialist diagnosis of CF despite sweat and gene testing for CF being normal.

Although care is generally delivered in specialist units across the UK, emergency department (ED) clinicians are more likely than in the past to see CF patients and will therefore have to manage their acute complications.

Whilst taking care of CF patients in non CF specialist areas it should always be noted that cystic fibrosis management demands exclusive specialist nursing, pharmacy, dietary, microbiology and other multidisciplinary support for patients as well as carers. Patients presenting with complications have other factors like transplantation, end of life care, palliation etc to be considered. Hence, early involvement of specialist team is imperative.

Learning Bite

Patients with CF are surviving longer and are more likely to present to the ED with a complication of their disease.