“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 Pathology Pathophysiology

Motility Disorders Primary Achalasia Diffuse Oesophageal Spasm Gastroparesis Acute/Chronic Intestinal Pseudo-obstruction Megacolon Hirschsprung’s disease

Achalasia Non-relaxing LOS Aperistalsis in the oesophageal body Drop-out of Inhibitory neurons (NO, VIP) Aperistalsis in the oesophageal body Causes: Chagas’ disease Pseudo-achalasia Cancers Idiopathic

Chagas’ Disease Symptoms Dysfunction Pathology Pathophysiology

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 Myopathy or Neuropathy Congenital or Acquired Primary or Secondary Connective tissue diseases Muscle disease Neurologic disorders Metabolic disorders e.g. Diabetes

Pseudoobstruction

Presents as acute or recurrent “obstruction”: Small intestine Colon Acute e.g acute colonic pseudo- obstruction (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 Pathology Genetics Immunology Pathophysiology

Neurological Disease: 1. Brain Stem Tumor Neurological Disease: 2. Parkinson’s Disease Neurological Disease: 1. Brain Stem Tumor Symptoms Dysfunction Pathology Dysphagia Nausea Ileus Constipation Incontinence Dysphagia Nausea Ileus Constipation Incontinence Pathophysiology

Hirschsprung’s Disease Children; rarely presents in adulthood Loss of inhibitory neurons Genetics understood Svenson’s pull-through procedure

Hirschsprung’s Disease Symptoms Dysfunction Pathology Pathophysiology

“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 + Bloating, distension Difficult defaecation 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 anti-parasitic regimes No weight loss Extensive and repeated investigations Blood work, gastroscopy, colonoscopy, small bowel x-rays, abdominal imaging All negative

Management Listen and appreciate Symptomatic 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 “Functional” 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