Dr Tracey Frech, the director of the systemic sclerosis (SSc) clinic at the University of Utah, and Salt Lake Veterans Affair Medical Centre, focussed her talk at the Cambridge conference on gut involvement in systemic sclerosis and the importance of research in this subject area.
The classification of scleroderma is achieved by a variety of items that have different weighting. The item with the highest weighting is the skin thickening of the fingers on both hands, which has a score of 9, whereas items such as digital tip ulcers and fingertip pitting lesions have scores of 2 and 3 respectively. Patients with a total score of more than 9 are classified as having definite scleroderma. A combination of different criteria is necessary to identify that someone has scleroderma: vasculopathies, such as Raynaud's and abnormal capillaries; fibrosis, such as skin thickening and interstitial lung disease; immune dysfunction, such as SSc-specific antibodies.
The health of the gastrointestinal tract (GIT; the food pipe that connects the stomach to the mouth) is incredibly important to monitor in someone who has SSc. This is because the GIT is the most commonly involved internal organ in SSc, acting as the presenting feature in at least 10% of the SSc patient group. GIT involvement can go on to occur during the course of disease in up to 95% of individuals with SSc. GIT is also responsible for 6-12% of mortality cases associated with SSc.
There are a range of challenges when assessing if someone has GIT involvement. This is primarily because of the different manners in which symptoms will present in the clinic, and the varying disease course from person to person. Furthermore, even if a doctor is checking for GIT involvement through looking for laboratory or anatomical abnormalities, symptoms will often precede these, and absence of symptoms does not mean there is no dysfunction of this organ.
Approaches to studying SSc-related GIT problems are through both symptom assessment (questionnaires and categorical severity) and testing (laboratory, tissue visualisation, imaging). Gauging the extent of heartburn and difficulty in swallowing are often priorities in these assessments as there is a 90% prevalence of oesophageal symptoms in those with SSc. The oesophagus is another word for the GIT. Questions commonly asked regarding heartburn include if the patient is adhering behavioural interventions, if the patient is currently on treatment and if the patient is considering surgical intervention. Difficulty in swallowing (dysphagia) can be evaluated by understanding if the person is struggling to swallow liquids or solids and if there is regurgitation. Cough can be a manifestation of oesophageal symptoms in many cases. Gastroesophageal reflex disease (GERD) are often multifactorial and related to a combination of impaired oesophageal and gastric activity. Heartburn and regurgitation are the two cardinal symptoms of GERD.
The consensus for the best practice pathway is one agreed by the UK Scleroderma Study Group and occurs in 3 phases. The first stage is the establishment of diagnosis by symptoms, such as volume reflux (regurgitation, nausea, vomiting), heartburn and dysphagia. The next phase is the provision of initial management by addressing lifestyle factors and applying proton pump inhibitors. If there is improvement, there should be regular monitoring, and if there is transient or no improvement, gastroscopy will generally be performed, which leads to the third phase. This is referral for specialised investigations to assess the physiology of the oesophagus. Patient education, avoiding surgery, and monitoring and managing co-existing lung-disease and aspiration are all end-points of this pathway.
Questionnaires used to assess GIT function tend to involve respondents entering frequency scores after reflecting on their symptoms over the previous week. An example of a question is: in the past 1 week, how often did you have difficulty swallowing solid food; 0 points are given for no days, 1 point for 1-2 days, 2 points for 3-4 days and 3 points for 5-7 days. More points therefore means more GIT dysfunction. The goal for questionnaires such as these is to identify symptoms with ideally minimal patient time burden. It is possible for the responses to guide care decisions at limited cost, and there may also be a potential role for them from a research perspective. A physician may make different management considerations from the answers, either behavioural or treatment-wise, such as suggesting smaller meals, elevating the head of the bed, the avoidance of alcohol and tobacco, as well as changing medications that may have problematic coatings or may be affecting stomach acid.
Weight loss and nutritional issues can have a profound impact on the quality of someone's life and are significantly associated with SSc-related GIT involvement. 18-25% of people with SSc are thought to suffer from malnutrition, regardless of their BMI and dietary self-reports. Colonic involvement is seen up to 50% of SSc patients, and the anorectum is involved in up to 70%. Faecal incontinence is another area of concern that occurs in over 20% of people with SSc.
Watch the full presentation below:
