“Functional” Bowel Disorders Eamonn M M Quigley MD November 2010 “Functional” Bowel Disorders • Refer to disorders of gut function where there is no obvious abnormality of structure or morphology – Cause symptoms – Impair Quality of Life – Do NOT imply/equate to psychological/psychogenic!! A Sub-Classification • Defined disorders of function; i.e. motility disorders • Putative disorders of function; “functional disorders” Well-Defined Motility Disorders Symptoms Dysfunction Pathophysiology Pathology Motility Disorders • Primary – – – – Achalasia Diffuse Oesophageal Spasm Gastroparesis Acute/Chronic Intestinal Pseudoobstruction – Megacolon – Hirschsprung’s disease Achalasia • Non-relaxing LOS – Drop-out of Inhibitory neurons (NO, VIP) • Aperistalsis in the oesophageal body • Causes: – Chagas’ disease – Pseudo-achalasia • Cancers – Idiopathic Chagas’ Disease Symptoms Dysfunction Pathophysiology Pathology Achalasia - Management • Muscle relaxants – Ca++ - blockers – Nitrates • Dilatation – Bougie; transient benefit only – Balloon forced dilatation • Surgery – Heller myotomy • Botox Ineffective Diffuse Oesophageal Spasm • True idiopathic spasm rare; usually secondary to GORD • Non-cardiac chest pain • Treat: – Muscle relaxants – Dilatation – ? Surgery Pseudoobstruction • Rare disorders resulting in diffuse motor dysfunction: – – – – Oesophageal dysmotility Gastroparesis Small bowel pseudobstruction Colonic pseudobstruction – – – – Connective tissue diseases Muscle disease Neurologic disorders Metabolic disorders e.g. Diabetes • Myopathy or Neuropathy • Congenital or Acquired • Primary or Secondary Pseudoobstruction Presents as acute or recurrent “obstruction”: • Small intestine • Colon • Acute e.g acute colonic pseudoobstruction (acute megacolon) • post-op (Ogilvie’s syndrome) • Chronic • results in intestinal failure • small intestinal bacterial overgrowth • inability to tolerate p.o. nutrition Scleroderma Symptoms Dysfunction Pathophysiology Pathology Genetics Immunology Neurological Disease: 2. 1. Parkinson’s Brain StemDisease Tumor Symptoms Dysfunction Dysphagia Nausea Ileus Constipation Incontinence Pathophysiology Pathology Hirschsprung’s Disease • Children; rarely presents in adulthood • Loss of inhibitory neurons • Genetics understood • Svenson’s pullthrough procedure Hirschsprung’s Disease Symptoms Dysfunction Pathophysiology Pathology “Functional” Disorders • • • • • • Functional Heartburn Globus Sensation Functional Dyspepsia Irritable Bowel Syndrome Functional Abdominal pain Functional Diarrhoea/Constipation Often overlap; one disorder or a number of discrete disorders Functional GI Disorders • Responsible for over 50% of all G.I. Complaints seen by a G.P.! How do you make a diagnosis? • • • • Symptoms No pathology No abnormal blood tests No abnormal X Ray’s Diagnosis • By exclusion • Definitive, based on symptoms ( a consensus approach) Rome • Functional Dyspepsia “ A chronic pain or discomfort centred in the upper abdomen; may be additional symptoms such as fullness, bloating, early satiety, nausea, vomiting” Rome • IBS – “ chronic abdominal pain or discomfort associated with bowel movement; may be additional symptoms such as bloating, distension, constipation, diarrhoea” IBS • Abdo Pain + – Urge to b.m. – Relief by b.m. – Alternating diarrhoea and constipation • Bloating, distension • Difficult defaecation Functional Bowel Disorders Cause(s) • • • • • Motor Dysfunction Visceral Hypersensitivity Low-grade inflammation Central Perception Psyche FD – Pathophysiology; motility • • • • • • Gastroparesis Impaired Fundic Accommodation Antral Dilatation Gastric Hypersensitivity Abnormal Cerebral Perception Helicobacter Pylori IBS - Pathophysiology • • • • Motility Visceral Hypersensitivity Central Perception Inflammation – Post-infective – Immune activation – Microbiota different • Psyche Case History • 24 year-old female graduate student, volunteers in Africa • 2000 presented with a 2 year history of abdominal cramps and constipation – Went on wheat-free diet – Substituted soya for cows milk – Lived in: » Malawi age 3-10 » Malaysia age 14-16 • December 2003 – Every 2 weeks: diarrhoea, nausea lasting 2-3 days – Loperamide helped • April 2004 – Anticholinergic, antispasmodic and antidiarrhoeal: some help • July 2004 Case History • July 2004 • Despite 6 diphenoxylate/day – Every 3-4 days borborygmi and cramps followed by diarrhoea (b.o. X 5 in a.m.) and urgency – Took tinidazole for 4 days – no effect – Family history of pernicious anaemia, coeliac disease and Crohn’s disease Case History • April 2009 • Intermittent symptoms – Worse after meals and when stressed • Has had a number of anti-biotic and antiparasitic regimes • No weight loss • Extensive and repeated investigations – Blood work, gastroscopy, colonoscopy, small bowel x-rays, abdominal imaging » All negative Management • Listen and appreciate – Understand aggravating factors and modify • Symptomatic – Anti-diarrhoeals – Laxatives – Anti-spasmodics • Tricyclic anti-depressants (low dose); SSRI’s • Behavioral and psychological therapies Summary • Motility disorders – Not common – May cause considerable disability – Based on disorders of intestinal nerve or muscle or their central connections • “Functional” disorders – Common – May cause considerable impairment in quality of life – Pathophysiology not fully understood