Gastro-oesophageal reflux

Gastro-oesophageal reflux

The most common and severe gastrointestinal problem in CdLS is reflux, otherwise known as gastro-oesophageal reflux disease (GORD) (⁸⁸,⁸⁹). GORD is a condition in which a weakness in the muscles above the stomach allows stomach acid to travel into the oesophagus.

GORD tends to persist or worsen with time. GORD is more common in individuals with CdLS caused by changes to the NIPBL gene (³,⁹¹). GORD is also common in other individuals with CdLS who display the classic CdLS phenotype (⁹²).

Symptoms of reflux can be highly variable and can include feeding problems, poor appetite, vomiting, belching, heartburn, failure to thrive, agitation, restlessness or poor sleep. Sometimes GORD may be related to a change in behaviour, such as increased self-injurious or aggressive behaviour (³,⁹⁰), abnormal positioning of the body, or irritability (R32).

Reflux can sometimes be ‘hidden’ if a person does not vomit or belch. Hidden or ‘Silent Reflux’ could be occurring if refluxing stomach acids rise into the oesophagus without heartburn or other symptoms. This can be dangerous because this material contains gastric acid, and enzymes that may cause harm to the lining of the oesophagus, leading to scarring and narrowing of the food-pipe (²,⁹³,⁵⁹). This may only present as difficulty swallowing, choking or vomiting and aspiration. ‘Silent Reflux’ may be more common in CdLS. It may be helpful to be aware of the behavioural signs or indicators of pain and discomfort (see the ‘Pain and Behaviour’ section) when obvious signs of reflux are not apparent.

Other signs of reflux include back arching, teeth grinding, lying over objects, constant fidgeting and movement, increased salivation, bad breath, hesitation when eating food and attempting to put objects or hands down the back of the throat. These behaviours do not mean that reflux is definitely occurring, and further investigation is required by a GP or paediatrician. It is important that these signs are monitored regularly.
First-line treatments for GORD include changing nutrition and proton pump inhibitors (PPI). PPIs are a group of drugs which reduce the amount of acid made in the stomach. Individuals with CdLS appear to respond well to maximum dosages of PPIs (⁵⁷,⁹⁶) (R33). If individuals still experience reflux symptoms after changing nutrition or taking PPIs, doctors may consider looking inside the body to see what is happening using an endoscope (R34). Although there are surgical interventions for GORD, they are typically limited to individuals with CdLS who have not responded to changes in nutrition or medical treatments (R33).

Over many years refluxing stomach acids rising into the oesophagus can damage the cells lining the oesophagus. This is called Barrett’s Oesophagus. Damaged cells in the oesophagus are at increased risk of becoming cancerous (⁹⁵). Several individuals with CdLS with long-term GORD have developed cancer in the oesophagus as young adults (⁹²,⁹⁴). It is important that all people with CdLS are regularly monitored for reflux and long-term follow-up is also recommended. This is because GORD is often chronic, which is a major risk factor for developing Barrett’s Oesophagus (⁹⁵). The most reliable way to monitor reflux and Barrett’s Oesophagus is by repeated endoscopes, which puts substantial burden on the individual with CdLS and their family, particularly because anaesthesia is needed for the procedure.

Parents should be pro-active in seeking help from local doctors or GPs in relation to reflux. A paediatrician or gastroenterologist (a specialist in gastrointestinal problems) should discuss the pros and cons of monitoring Barrett’s Oesophagus with the family and, if possible, the individual with CdLS. Families and doctors should decide together what treatment or care is the best for the individual (R35).

Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

_{Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 jul 2018

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Modificado por Gerritjan Koekkoek em 2022/09/29 16:10

Criado por Gerritjan Koekkoek em 2019/03/27 15:09