Diagnosis and management of cystic fibrosis: summary of NICE guidance (original) (raw)

2017, BMJ (Clinical research ed.)

Cystic fibrosis is a life limiting autosomal recessive disorder that affects up to one in 2500 babies born in the UK. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator protein, which acts at the cell surface in all mucus producing organs in the body. It is a multisystem disorder, affecting the lungs, pancreas, liver, and intestine. It is usually diagnosed in the UK through a neonatal screening programme, although diagnosis can be made later, and even in adult life. 1 The median age at diagnosis is 2 months. 1 In the past, when early death was common, cystic fibrosis was uncommon in adults, but with improved management this is no longer the case in more developed countries. However, in low income countries, mortality in childhood is still high. 2 At present, more than 60% of people on the UK cystic fibrosis registry are aged over 16. 1 This article summarises the recent National Institute for Health and Care Excellence (NICE) guidance on the diagnosis and management of cystic fibrosis in children, young people, and adults. 3 This guideline was commissioned with the aim of improving the diagnosis and management of cystic fibrosis. It covers indications for referral, diagnosis, monitoring, and recognition of complications. It addresses the management of pulmonary disease, including infection in cystic fibrosis, and the prevention of cross infection. It also provides recommendations on service organisation, information, and support to people with cystic fibrosis, and where appropriate to parents and carers. Although the guideline recommends that the care of people with cystic fibrosis is provided by specialist cystic fibrosis centres, this summary is specifically aimed at non-specialist healthcare professionals, for example in primary care, who might become involved in the care of people with cystic fibrosis for a variety of reasons. Healthcare professionals might need to recognise complications of the condition (for example, fertility problems), or when to signpost on to other services.