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DYSPHAGIA By MedRx Dysphagia refers to a difficulty in swallowing. It is a common medical presentation, with 50-66% of people over 60 being affected at some point. Therefore, it is a presentation medical students should be aware of! In this handout, we will go through the differential diagnosis of dysphagia, the important aspects of a history and the important investigations related to dysphagia. We will then cover three important conditions which cause dysphagia: Oesophageal cancer, achalasia and pharyngeal pouch Contents Using this handout 1. Difa. High dysphagiais of dysphagia b. Low dysphagia 2. How to take a dysphagia history The content in this handout is quite a. HPC are the differential diagnosis (section 1), b. PMH the ‘essential advice’ and any writing in c. DH bold - prioritize these first! At the same d. FH time, the content is not exhaustive and e. SH should not be seen as covering every 3. Dysa. Endoscopytigations detail but instead the most important b. Barium swallow ones. This handout is for purely c. Manometry used when treating patients.uld not be 4. Dysphagia conditions a. Detailed condition – oesophageal cancer b. Brief condition – achalasia c. Brief condition – pharyngeal pouch The essential differential diagnosis of dysphagia The differential diagnosis of dysphagia can be split in two: Causes of high dysphagia (difficulty initiating the swallow) Causes of low dysphagia (food gets stuck a few seconds later) Causes of a high dysphagia In ‘high’ dysphagia, a patient has difficulty initiating a swallow or has trouble immediately after swallowing. The differential diagnosis of high dysphagia can be split into ‘functional’ and ‘structural’ causes. Structural causes, in turn, can either be in the lumen, the wall (mural) or outside the wall (extrinsic): STRUCTURAL FUNCTIONAL LUMINAL MURAL EXTRINSIC • Parkinson’s • None • Cancer • None disease • Pharyngeal pouch • Stroke • Cricopharyngeal bar • Multiple ‘Consultants prioritize Sclerosis cancer’ • Myotonic dystrophy • Motor neuron disease • Myasthenia gravis ‘PS MMMM’ Causes of a low dysphagia In low dysphagia, the patient is fine with initiating the swallow, but feels food getting stuck a few seconds after swallowing. The differential diagnosis of a low dysphagia can be split in the same way as that for high dysphagia. FUNCTIONAL STRUCTURAL LUMINAL MURAL EXTRINSIC • Nutcracker • Foreign • Plummer- • Pericarditial oesophagus body Vinson effusion • Achalasia syndrome • Retrosternal • Chagas disease • Schatzki ring goitre • Diffuse • Congenital • Ortner’s oesophageal atresia syndrome spasm • Post- • Bronchial • CREST fundoplication carcinoma syndrome surgery • Mediastinal ‘No ACDC’ • Strictures mass • Cancer • Dysphagia ‘PSC PSC’ lusoria • Thoracic aortic aneurysm ‘PROB MDT Taking a dysphagia history PMH HPC With a dysphagia presentation, there are two broad categories of GORD questions you should ask – questions about the dysphagia itself and Can cause strictures, and questions about associated symptoms. Barrett’s oesophagus Questions about the dysphagia itself which predisposes to 1. What exactly do they struggle with? oesophageal a. Initiating swallow – high dysphagia adenocarcinoma. b. After starting to swallow – low dysphagia Specifically ask if they 2. How long has it been going on for? have had fundoplication surgery. a. Cancer – short history of days to weeks Peptic ulcers b. Functional such as achalasia – longer history Can lead to 3. Intermittent or progressive? scarring and a. Intermittent – motility disorders eg oesophageal spasm strictures in the b. Progressive – stricture (malignant or non malignant) lower oesophagus 4. Liquids, solids or both? to cause dysphagia a. Solids only – mechanical obstruction (stricture or cancer) Cardiovascula b. Fluids more pronounced – motility disorder r disease (ie Questions about associated symptoms 5. Coughing/choking after swallowing hypertension) a. Suggests a high functional problem (PS MMM differential) Raises possibility 6. Gurgling of thoracic aortic a. A classical symptom of a pharyngeal pouch aneurysm. 7. Heartburn Ortner’s syndrome can be caused by a. Suggests GORD – predisposes to strictures and cancer. mitral stenosis. 8. Weight loss, fever, night sweats, loss of appetite Neuromuscul a. All red flags for malignancy ar disease 9. Nocturnal cough/ Wheeze Could be a direct a. Classic of GORD but also present in achalasia (stasis of food consequence of a results in aspiration) neurological 10. Neurological symptoms condition a. Makes any functional high disorder (PS MMMM) more likely Rheumatologi 11. Rheumatological symptoms cal Disease a. Calcinosis, raynaud’s, scleroderma, telangiectasia +/- heart, respiratory and kidney issues makes CREST syndrome more Raises possibility of CREST likely syndrome. SH 1. Alcohol andsmoking–risk factor for squamous cell carcinoma of FH oeseophagus 1. Cancer 2. Diet – iron deficiency anemia predisposes to Plummer Vinson 2. Any of above syndrome conditions (under PMH) DH 3. Drugs which loosen the lower oesophageal sphincter can cause acid reflux hence strictures, for example nitrates and Calcium channel blockers 4. Drugs which cause peptic ulcers can cause dysphagia, as peptic ulcers cause strictures – bisphosphonates, NSAIDs, steroids. Dysphagia Investigations There are three main special investigations which are useful for dysphagia. These are: barium swallow, endoscopy and manometry. Barium swallow Barium swallow test involves the patient swallowing liquid barium, which shows up as contrast on an X ray. This allows good visualization of the oesophagus. The advantage of barium swallow is that it allows ‘higher up’ lesions, which may be missed on endoscopy to be seen such as pharyngeal pouches or high cancers. Furthermore, it can show characteristic signs for motility disorders, such as a ‘bird’s beak appearance’ for achalasia However, barium swallow does not have as high of a sensitivity and specificity as endoscopy, and biopsy is not possible, meaning endoscopy is often the first line investigation. Endoscopy Endoscopy involves inserting a thin, flexible tube (endoscope) down the oesophagus to biopsies can be taken. However, the major disadvantage is that, during the procedure, theand upper oesophagus is intubated blindly, so there is a risk of perforation or injury if a high lesion (ie high cancer) is present. Manometry Manometry is a way to test the muscle contractions and pressure of the various parts of the oesophagus and is therefore vital in diagnosing motility disorders (achalasia, oesophageal spasm etc). The test involves inserting a catheter (containing pressure sensors) through the nose, down the oesophagus and into the stomach, before readings of pressure are taken during swallowing. The test is invasive but provides definitive diagnosis for motility disorders. Essential advice: Remember the advantages and disadvantages of the different imaging techniques used for dysphagia. Barium swallow is good for high lesions but is not that sensitive or specific, endoscopy is sensitive and specific and allows biopsies but risks injury, and manometry is great for motility disorders but is invasive. Oesophageal cancer – risk factors and symptoms What are the risk What are the factors? symptoms? There are two main types of The symptoms of oesophageal cancer can be oesophageal cancer – squamous cell split into the ‘most common’ symptoms and carcinoma (upper 2/3, >90% of cases) ‘less common’ symptoms. and adenocarcinoma (lower 1/3, less common). Squamous cell carcinoma Common symptoms of and adenocarcinoma of the oesophagus have distinct risk factors: oesophageal cancer Dysphagia (75%). Risk factors of SCC Weight loss (60%) Coeliac disease. GI reflux (20%) Hereditary tylosis Odynophagia (20%) Achalasia Dyspnoea (10%) Aflatoxins Plummer-Vinson syndrome Less common symptoms Smoking of oesophageal cancer ‘CHAAAPS’ GI bleeding Risk factors of Hoarseness (recurrent laryngeal nerve) Cough adenocarcinoma Facial flushing (SVC obstruction) Just one main risk factor – GORD/ reflux (Barrett’s oesophagus) Essential advice: Remember GORD as a risk factor for adenocarcinoma (NOT SCC). Chronic acid reflux can cause a condition known as Barrett’s oesophagus, where the stratified squamous epithelium of the lower oesophagus turns into columnar epithelium (columnar-lined oesophagus). This can predispose to adenocarcinoma. Oesophageal cancer – diagnosis and staging Staging Diagnosis The staging of oesophageal cancer is The diagnostic investigations for based on the tumor size, lymph node oesophageal cancer can be split into involvement and metastases presence the investigations for the definitive (TNM scoring system) diagnosis of the cancer itself, and the staging investigations Tumour Definitive diagnosis • TX – can’t be assessed 1. Upper GI endoscopy • TO – no evidence of primary (gastroscopy) • Tis – carcinoma in situ • T1 – invades into lamina propria, 2. Biopsy with histology muscularis mucosa or submucosa o T1a –lamina propria or muscularis mucosa Staging o T1b – submucosa • T2 – invades into muscularis investigations propria • T3 – invades adventitia 1. CT – thorax, abdomen, pelvis (CT-TAP) • T4 – invades adjacent structures o T4a – pleura, pericardium, 2. Abdominal US for liver peritoneum, diaphragm metastases o T4b – others 3. PET Nodes 4. Endoscopic ultrasound 5. Laparoscopy • NX – can’t be assessed • N0 – no nodes • N1 – 1-2 nodes • N2 – 3-6 nodes • N3 – 7 or more Metastasis • MX – can’t be assessed • M0 – no distant metastasis • M1 – Distant metastasis Oesophageal cancer – management and complications For an AC: Management 1. Preoperative chemotherapy then The management of oesophageal oesophagectomy cancer is split into three groups: 2. Chemotherapy and radiotherapy then oesophagectomy 1. Limited (T1-2, N0, M0) 2. Locally advanced (T3-4, or N1- Not an operation 2, M0) 3. Above two but not an operation candidate/ advanced candidate or Advanced disease disease management Limited disease If the patient has limited or locally advanced disease but is not an operation management candidate or if they have advanced disease then the following palliative options can Management for limited disease, be considered: whether a SCC or an AC, is resection which can either be: 1. Radiotherapy 2. Chemotherapy 1. Oesophagectomy 3. Endoscopic stenting 2. Endoscopic mucosal resection 4. Targeted therapy – trastuzumab if (EMR) HER2 positive 3. Endoscopic submucosal dissection 5. Psychological and social support (ESD) Complications Locally advanced The main complications of oesophageal disease management cancer are death, due to the poor prognosis, and complications of The management for locally advanced treatment: oesophageal cancer depends on whether an SCC or an AC is present. 1. Death a. Stage 1 disease 5 year survival – For an SCC: 52.8% b. Stage 3 disease – 16%. 1. Neoadjuvant chemotherapy/ 2. Oesophagectomy complications radiotherapy then oesophagectomy a. Breakdown of anastomosis – 2. Radical chemotherapy/ poor blood supply, infection or radiotherapy, 3 monthly follow up patient factors then salvage resection if required b. Pneumonia – poor ventilation secondary to pain c. Cardiac arrythmia – manipulation of tissue near heart Achalasia Achalasia is a motility disorder of the oesophagus which involves a failure to What is the relax the lower oesophageal sphincter. management? What causes it? The treatment options for achalasia can be split into conservate, medical and surgical: Primary achalasia is caused by decreased inhibitory ganglion cells in the Conservative: myenteric plexus, leading to loss of relaxation of LOS. 1. Lifestyle advice – eating slowly, taking smaller bites, drinking water with food Secondary achalasia Medical: (pseudoachalasia) can be due to other mechanisms causing a failure of LOS relaxation: 2. CCBs and Nitrates 3. Botulinum toxin injection 1. infiltrating cancer, Surgical: 2. Chagas disease 3. Amyloidosis 4. Sarcoidosis 1. Pneumatic balloon dilatation – 5. Eosinophilic oesophagitis a. Inserting balloon via endoscope, which is blown up to open LOS What are the – tears muscle fibers. b. Perforation risk 1-5% symptoms? 2. Peroral endoscopic myotomy (POEM) a. Cut mucosa, then dissect down 1. Dysphagia – liquids>solids inner circular muscle towards 2. Regurgitation cardia – risk of reflux 3. Vomiting 3. Surgical/Heller’s myotomy 4. Weight loss a. Similar to POEM but doesn’t 5. Chest pain affect the mucosa – often a 6. Heartburn fundoplication is done alongside to prevent GORD 4. Oesophagectomy – What is the diagnostic a. Rarely used in resistant cases. technique? What are the 1. Endoscopy – exclude a complications? structural cause 2. Barium swallow – shows 1. Aspiration characteristic ‘bird’s beak appearance’ or delayed 2. Squamous cell oesophageal clearance of carcinoma (1 per 300 patient barium years) 3. Manometry – allows definitive diagnosis. Pharyngeal Pouch Pharyngeal pouch is also known as Zenker’s diverticulum. It involves What is the herniation of the pharynx through an area on the posterior pharyngeal wall called management? Killian’s dehiscence (a triangular area bounded by thyropharyngeus oblique The management of Zenker’s fibres superiorly and circopharyngeus diverticulum, like achalasia, can be split transverse fibres inferiorly). into conservative, medical and surgical management: Conservative: 1. Lifestyle advice ie eat slowly, having smaller bites chewing longer than usual etc 2. Used for asymptomatic pouches measuring <1cm Medical: What are the risk 3. There are not really any medical managements for Zenker’s factors? diverticulum, but complications • Male sex (2x as likely) should be treated ie antibiotics for • Increasing age pneumonia Surgical: What are the signs and symptoms? 4. Trans-oral (endoscopic) 5. Open percutaneous surgery 1. Dysphagia (cricopharyngeal myotomy) . Indicated 2. Regurgitation if: 3. Gurgling a. Patient has a short neck, small 4. Neck lump chin, large body habitus or 5. Halitosis difficulty in opening mouth b. A large pouch (over 2cm) ‘DR Geriatrics notices halitosis’ What are the What is the diagnostic complications? technique? 1. Ulceration 2. Aspiration pneumonia 1. Endoscopy 3. Fistulation to the trachea 2. Barium swallow – outpouching on 4. Vocal cord palsy posterior wall (at Killian’s dehiscence) 5. Squamous cell carcinoma of pouch 3. Ultrasound– if barium swallow not suitable References 1. Farne, H., Norris-Cervetto, E. and Warbrick-Smith, J. (2015). Oxford cases in medicine and surgery. Oxford ; New York: Oxford University Press. 2. Anon, (n.d.). Zero To Finals – Tools for Medical School. [online] Available at: https://zerotofinals.com. 3. Pulsenotes. (n.d.). Oesophageal cancer notes. [online] Available at: https://app.pulsenotes.com/medicine/gastroenterology/notes/ oesophageal-cancer 4. Pulsenotes. (n.d.). Achalasia. [online] Available at: https://app.pulsenotes.com/medicine/gastroenterology/notes/ achalasia 5. updated, D.M.A.S. (2023). Pharyngeal Pouch (Zenker’s Diverticulum) | Geeky Medics. [online] geekymedics.com. Available at: https://geekymedics.com/pharyngeal-pouch- zenkers-diverticulum/ 6. Chilukuri, P., Odufalu, F. and Hachem, C. (2018). Dysphagia. Missouri Medicine, [online] 115(3), pp.206–210. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140149/.