Cystic Fibrosis & disorders of the large intestine: DIOS, constipation, and colorectal cancer

Abstract

Since 1966 when the Cystic Fibrosis Foundation Patient Registry (CFFPR) was founded, clinicians have witnessed significant advances in both the quality and quantity of life for patients living with Cystic Fibrosis (CF). As patients with CF live longer and fuller lives, increasing encumbrances from gastrointestinal manifestations of CF will be observed. This article serves to discuss "below the diaphragm" concerns involving the large intestine (Distal Intestinal Obstruction Syndrome, Constipation, and Colorectal Cancer). Avenues for development and implementation of clinical care protocols, particularly regarding proactive management of known associated conditions and cancer screening, will continue to be refined in the coming years. It falls to the multidisciplinary CF care team to be actively engaged in addressing these concerns effectively as priority shifts from relative acuity (typically related to early nutrition and lung function) to the travails of longevity as the CF population continues to age.

Distal intestinal obstruction syndrome: an important differential diagnosis for abdominal pain in patients with cystic fibrosis

“…In patients with a severe CF genotype, or class I–III mutations where there is no functional CFTR protein, there is an association between the development of DIOS and the degree of impairment in chloride secretion . However, it is not an absolute association as patients with a mild genotype may still suffer from DIOS …”

“…There are important management differences between DIOS and other classical causes of mechanical bowel obstruction, as outlined in Table . It is strongly recommended that DIOS is managed in a joint manner by the acute surgical team and the CF multidisciplinary team, especially to ensure that the pulmonary exacerbations are manage appropriately . The management of DIOS largely relies upon empirical evidence, with little to no trial evidence available.…”

“…providing management algorithms . First, for mild acute episodes of DIOS with a partial obstruction, current paediatric recommendations suggest the administration of polyethylene glycol orally in doses of 2 g/kg/day to a maximum of 80–100 g/day . Possible commercial solutions that can be used include Movicol (Norgine Pty Ltd, Frenchs Forest, NSW, Australia), Osmolax (Key Pharmaceuticals, Macquarie Park, NSW, Australia) or Golytely (Braintree Laboratories, Randolph, MA, USA).…”

Cystic fibrosis: novel therapies, remaining challenges

“…Lack of CFTR function in the pancreas results in pancreatic insufficiency, nutritional deficiencies and the development of CFRD. Disorders of the gastrointestinal tract include gastro‐oesophageal reflux disease, distal intestinal obstruction and increased risk of digestive tract cancers, especially colorectal cancer …”

“…Disorders of the gastrointestinal tract include gastro-oesophageal reflux disease, distal intestinal obstruction and increased risk of digestive tract cancers, especially colorectal cancer. 5 Together with the Guthrie test at birth, which screens for CF, identification of the specific mutations that affect CFTR forms the basis of diagnosis and contributes to genetic counselling. Most of the common mutations that result in clinical CF have been identified and classified into six classes on the basis of their effect on the CFTR protein production, trafficking, function and stability ( Figure 1).…”