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Case 21.5 – Irritable Bowel Syndrome (IBS)

Category: Medicine | Discipline: Gastroenterology | Setting: GP Practice

Case

Ms. Emma Williams, a 32-year-old marketing executive, presents to her GP with a 12-month history of recurrent abdominal pain and altered bowel habits. She describes crampy lower abdominal pain that occurs at least 3 days per week, often relieved after opening her bowels. Her bowel habits alternate between constipation (hard, pellet-like stools) and loose stools, sometimes multiple times per day. She experiences significant bloating, particularly in the evenings, and excessive flatulence. Symptoms are worse during stressful periods at work and around her menstrual period. She denies rectal bleeding, nocturnal symptoms, or unintentional weight loss. She has tried over-the-counter peppermint oil with some benefit. She reports the symptoms significantly affect her quality of life, causing anxiety about being away from toilet facilities. Examination reveals a soft, non-tender abdomen with no masses or organomegaly.

Vital signs: BP 120/75 mmHg, HR 72 bpm, Temp 36.6°C. Abdominal examination: soft, non-tender, no masses. Weight stable

Questions

1. What is irritable bowel syndrome (IBS), and what are the Rome IV diagnostic criteria?

Definition:

Irritable Bowel Syndrome (IBS) is a functional gastrointestinal disorder characterized by chronic or recurrent abdominal pain associated with altered bowel habits (diarrhoea, constipation, or both) in the absence of organic disease.

Epidemiology:

  • Prevalence: 10-20% of the population in developed countries
  • Female:male ratio approximately 2:1
  • Peak incidence in 20s-30s, though can occur at any age
  • One of the most common reasons for GI consultations
  • Significant impact on quality of life and healthcare costs

Rome IV Diagnostic Criteria for IBS:

Recurrent abdominal pain, on average, at least 1 day per week in the last 3 months, associated with 2 or more of the following:

  1. Related to defecation (pain improves or worsens with bowel movements)
  2. Associated with a change in frequency of stool
  3. Associated with a change in form (appearance) of stool

Additional requirements:

  • Criteria fulfilled for the last 3 months
  • Symptom onset at least 6 months prior to diagnosis

Important note: IBS is a positive diagnosis based on symptoms, NOT a diagnosis of exclusion (though red flag features must be excluded)

IBS Subtypes (based on predominant stool pattern using Bristol Stool Form Scale):

  • IBS-C (IBS with constipation):
    • >25% of bowel movements with Bristol types 1-2 (hard/lumpy)
    • \<25% with Bristol types 6-7 (loose/watery)
  • IBS-D (IBS with diarrhoea):
    • >25% of bowel movements with Bristol types 6-7
    • \<25% with Bristol types 1-2
  • IBS-M (IBS with mixed bowel habits):
    • >25% with Bristol types 1-2 AND >25% with Bristol types 6-7
    • Alternating pattern
  • IBS-U (IBS unclassified):
    • Meets criteria but cannot be accurately categorized into above subtypes

Note: Subtypes can change over time - patients should be reclassified if bowel habit pattern changes

Other Common Symptoms (not part of diagnostic criteria but frequently present):

  • Abdominal bloating and distension
  • Excessive flatulence
  • Urgency of defecation
  • Sensation of incomplete evacuation
  • Passage of mucus
  • Symptoms often exacerbated by:
    • Stress and psychological factors
    • Certain foods
    • Menstruation
  • Symptoms typically do NOT occur at night (nocturnal symptoms suggest organic pathology)
2. What red flag features should prompt investigation to exclude organic disease, and what initial investigations are appropriate?

Red Flag Features (Alarm Symptoms) - MUST Investigate:

The presence of any of these features suggests organic disease rather than IBS:

  • Age >50 years with new-onset symptoms
  • Rectal bleeding (other than small amounts of bright red blood from anal fissure/haemorrhoids associated with constipation)
  • Unintentional weight loss
  • Nocturnal symptoms (pain or diarrhoea waking patient from sleep)
  • Family history of:
    • Colorectal cancer (especially first-degree relative <60 years)
    • Inflammatory bowel disease
    • Coeliac disease
  • Palpable abdominal or rectal mass
  • Iron deficiency anaemia
  • Raised inflammatory markers (elevated CRP, ESR)
  • Change in bowel habit to looser/more frequent stools persisting >6 weeks in patient >60 years

Additional Features Warranting Further Investigation:

  • Severe, progressive, or continuous symptoms
  • Symptoms predominantly diarrhoea (IBS-D) - need to exclude other causes
  • Unexplained fever
  • Symptoms starting after travel (consider infectious causes)
  • Recent antibiotic use (consider C. difficile)

Initial Investigations:

For patients WITHOUT red flags (typical IBS presentation):

  • Minimum baseline tests:
    • Full blood count (FBC): Exclude anaemia, inflammation (raised white cells, platelets)
    • C-reactive protein (CRP) or ESR: Exclude inflammation (suggests IBD or other organic disease)
    • Coeliac serology (tissue transglutaminase IgA + total IgA):
      • Essential - coeliac disease can mimic IBS
      • Particularly important in IBS-D and IBS-M
      • Patient must be on gluten-containing diet for accurate testing

Additional tests in IBS-D (diarrhoea-predominant):

  • Faecal calprotectin:
    • Marker of intestinal inflammation
    • Elevated in IBD, normal in IBS
    • Helps differentiate IBS from IBD without need for colonoscopy
    • Very useful screening test
  • Consider in selected patients:
    • Stool microscopy and culture if recent travel or suspected infection
    • Giardia antigen if relevant risk factors
    • Bile acid malabsorption testing (SeHCAT scan or empirical trial of bile acid sequestrant) if chronic diarrhoea

If above tests normal → diagnosis of IBS can be made based on positive Rome IV criteria

For patients WITH red flags:

  • Above blood tests PLUS:
  • Colonoscopy or flexible sigmoidoscopy:
    • To exclude colorectal cancer, polyps, IBD
    • Particularly if:
      • Age >50 with new symptoms
      • Rectal bleeding
      • Family history of colorectal cancer
      • Raised inflammatory markers
  • Faecal calprotectin: If not already done
  • Thyroid function tests: Hyperthyroidism can cause diarrhoea, hypothyroidism can cause constipation
  • Imaging (CT/MRI) if mass suspected or symptoms of obstruction

Further Specialist Investigations (if diagnosis unclear or refractory symptoms):

  • Small bowel imaging (MRI enterography, CT enterography) - if concern for small bowel pathology
  • Gastroscopy with duodenal biopsies - if upper GI symptoms or negative coeliac serology but high suspicion
  • Hydrogen breath testing:
    • Lactose breath test - lactose intolerance
    • Glucose or lactulose breath test - small intestinal bacterial overgrowth (SIBO)
    • Fructose breath test - fructose malabsorption
  • Colonic transit studies - if severe constipation
  • Anorectal physiology studies - if defecatory symptoms

Important Principles:

  • IBS is a positive diagnosis based on symptom criteria, not simply exclusion of other conditions
  • Extensive investigation is NOT required in typical cases without red flags
  • Over-investigation can reinforce illness behavior and increase patient anxiety
  • Clinical judgment should guide extent of investigation
  • Explain to patient that IBS is a genuine medical condition with physiological basis
3. What is the pathophysiology of IBS, and what factors are thought to contribute to its development?

The pathophysiology of IBS is multifactorial and not completely understood. It is now recognized as a disorder of gut-brain interaction involving multiple mechanisms:

1. Visceral Hypersensitivity:

  • Key feature of IBS
  • Increased sensitivity of gut to normal stimuli (distension, gas, stool)
  • Lower pain thresholds in response to rectal distension
  • Results in perception of normal gut activity as painful
  • Mechanisms:
    • Sensitization of peripheral sensory neurons
    • Altered central processing of pain signals (central sensitization)
    • Dysfunction in descending pain modulation pathways

2. Altered Gut Motility:

  • Abnormal patterns of intestinal contractions
  • Can result in:
    • Rapid transit → diarrhoea (IBS-D)
    • Slow transit → constipation (IBS-C)
    • Irregular/uncoordinated contractions → pain, bloating
  • Colonic motor abnormalities more pronounced after meals and during stress

3. Gut-Brain Axis Dysfunction:

  • Bidirectional communication between gut and brain disrupted
  • Psychological stress affects gut function via:
    • Hypothalamic-pituitary-adrenal (HPA) axis
    • Autonomic nervous system dysregulation
    • Altered brain processing of visceral signals
  • Explains why stress, anxiety, depression commonly associated with IBS

4. Post-Infectious IBS:

  • ~10% of IBS cases develop after acute gastroenteritis (bacterial, viral, parasitic)
  • Mechanisms:
    • Persistent low-grade inflammation
    • Altered gut microbiome
    • Increased intestinal permeability ("leaky gut")
    • Immune activation
  • Risk factors for post-infectious IBS: severe/prolonged infection, female gender, psychological distress

5. Gut Microbiome Alterations:

  • Dysbiosis - altered composition and diversity of gut bacteria
  • Differences in bacterial species between IBS patients and healthy controls
  • May contribute to:
    • Altered fermentation and gas production → bloating
    • Immune activation and inflammation
    • Altered gut-brain signaling
  • Small intestinal bacterial overgrowth (SIBO) may play a role in some patients

6. Low-Grade Inflammation and Immune Activation:

  • Subtle inflammation in some IBS patients
  • Increased numbers of mast cells, lymphocytes in gut mucosa
  • Release of inflammatory mediators (histamine, serotonin, prostaglandins)
  • May contribute to visceral hypersensitivity and altered motility

7. Altered Serotonin Metabolism:

  • ~95% of body's serotonin (5-HT) in the gut
  • Serotonin regulates gut motility, secretion, and sensation
  • Alterations in serotonin signaling in IBS:
    • May contribute to diarrhoea or constipation
    • Affects visceral sensitivity
  • Basis for some pharmacological treatments (5-HT3 antagonists, 5-HT4 agonists)

8. Increased Intestinal Permeability:

  • "Leaky gut" - increased passage of substances across intestinal barrier
  • May allow bacteria, antigens to cross → immune activation
  • Evidence strongest in IBS-D and post-infectious IBS

9. Food Sensitivities:

  • Not true allergies but may trigger symptoms
  • Mechanisms:
    • FODMAPs: Fermentable carbohydrates poorly absorbed, fermented by gut bacteria → gas, bloating, osmotic diarrhea
    • Specific food intolerances (lactose, fructose, etc.)
    • Food components activating immune system

Contributing/Trigger Factors:

  • Psychological factors:
    • Anxiety, depression, somatization very common in IBS
    • May be primary or secondary to symptoms
    • Stress exacerbates symptoms
    • History of trauma/abuse more common in IBS patients
  • Genetic predisposition:
    • Increased risk in first-degree relatives
    • Twin studies suggest heritability
    • Multiple genetic variants identified, but small individual effects
  • Environmental factors:
    • Diet
    • Infections
    • Antibiotics (alter microbiome)
    • Life stressors
  • Gender:
    • More common in women (2:1 ratio)
    • Hormonal factors may play a role
    • Symptoms often vary with menstrual cycle

Integrated Model:

Current understanding is that IBS results from complex interactions between:

  • Genetic predisposition
  • Environmental triggers (infection, stress, diet)
  • Resulting in altered gut physiology (motility, sensitivity, permeability)
  • Abnormal gut-brain signaling
  • Perpetuated by psychological factors and maladaptive coping

This biopsychosocial model explains the heterogeneous nature of IBS and why multifaceted treatment approach is often needed.

4. Outline the management approach to IBS, including lifestyle modifications, dietary interventions, and pharmacological treatments.

Management of IBS requires an individualized, multimodal approach addressing physical and psychological aspects.

1. Explanation, Reassurance, and Therapeutic Relationship:

  • ESSENTIAL first step - do not underestimate importance
  • Explain:
    • IBS is a genuine medical condition with physiological basis
    • Not "all in the mind" but gut-brain interaction involved
    • Benign condition - does not lead to cancer or shorten life expectancy
    • Does not cause permanent damage to bowel
    • Chronic relapsing-remitting condition - aim is symptom control, not cure
  • Validate patient's experience of symptoms
  • Establish realistic expectations
  • Build therapeutic relationship - continuity of care important

2. Lifestyle Modifications:

  • Regular meals:
    • Don't skip meals
    • Eat at regular times
    • Take time to eat, chew thoroughly
  • Adequate hydration:
    • 8 cups of fluid daily
    • Limit caffeine (max 3 cups coffee/tea daily) - stimulates gut
    • Reduce alcohol and fizzy drinks (can exacerbate symptoms)
  • Physical activity:
    • Regular exercise may improve symptoms
    • Aim for 30 minutes moderate activity most days
  • Stress management:
    • Identify and address stressors
    • Relaxation techniques
    • Adequate sleep
    • Work-life balance

3. Dietary Interventions:

General dietary advice (first-line):

  • Limit fresh fruit to 3 portions per day
  • Reduce intake of insoluble fibre if bloating/diarrhoea (bran, wholemeal products)
  • Try soluble fibre (oats, linseeds) if constipation
  • Reduce resistant starch (reheated cooked starchy foods)
  • Limit sorbitol and artificial sweeteners (common in sugar-free products, chewing gum)
  • Avoid large, fatty, or spicy meals if triggering

Food and symptom diary:

  • Can help identify trigger foods
  • Record foods eaten and symptoms for 2-4 weeks
  • Look for patterns

Low FODMAP diet (if first-line dietary advice unsuccessful):

  • FODMAPs: Fermentable Oligosaccharides, Disaccharides, Monosaccharides, And Polyols
  • Short-chain carbohydrates poorly absorbed in small intestine
  • Fermented by gut bacteria → gas, bloating, altered motility
  • Three phases:
    • Restriction phase (4-6 weeks): Eliminate high FODMAP foods
    • Reintroduction phase: Systematically reintroduce FODMAP groups to identify specific triggers
    • Personalization phase: Long-term diet avoiding only problematic FODMAPs
  • Should be supervised by dietitian to ensure nutritional adequacy
  • Effective in ~70% of patients
  • Not meant to be lifelong elimination - aim is personalized approach

Specific dietary exclusions (if indicated):

  • Lactose-free diet if lactose intolerance identified
  • Gluten-free diet only if coeliac disease or non-coeliac gluten sensitivity
  • Trial elimination of specific trigger foods

Probiotics:

  • May benefit some patients
  • Evidence variable - benefit modest at best
  • If trying: use for at least 4 weeks to assess effect
  • Different strains may have different effects

4. Pharmacological Treatment (Targeted by Predominant Symptom):

For abdominal pain/spasm:

  • Antispasmodics (first-line for pain):
    • Mebeverine, hyoscine butylbromide (Buscopan), peppermint oil
    • Take as needed or before meals
    • Reduce smooth muscle spasm
    • Generally safe, few side effects
  • Low-dose tricyclic antidepressants (if antispasmodics ineffective):
    • Amitriptyline 10-30mg at night
    • Analgesic effect independent of antidepressant action
    • Modulates visceral pain pathways
    • May slow gut transit (can help diarrhoea, worsen constipation)
    • Start low, increase slowly

For diarrhoea (IBS-D):

  • Loperamide (Imodium):
    • First-line for diarrhoea
    • Slows gut transit, reduces stool frequency
    • Use as needed or regularly
    • Does not help pain or bloating
  • Low-dose amitriptyline (as above)
  • Bile acid sequestrants (if bile acid malabsorption):
    • Cholestyramine, colesevelam

For constipation (IBS-C):

  • Laxatives:
    • Osmotic laxatives: macrogols (Movicol) preferred
    • Stimulant laxatives: senna, bisacodyl (if osmotic ineffective)
    • Avoid lactulose (may worsen bloating)
  • Linaclotide:
    • Specialist prescribing
    • For IBS-C inadequately controlled by laxatives
    • Increases intestinal fluid secretion and transit
    • Also reduces visceral pain

For bloating:

  • Dietary modification (low FODMAP diet)
  • Probiotics (may help some patients)
  • Peppermint oil
  • Rifaximin (non-absorbable antibiotic) - specialist use for bloating/SIBO

5. Psychological Therapies:

  • Consider if:
    • Refractory symptoms despite above measures
    • Significant psychological comorbidity (anxiety, depression)
    • Significant impact on quality of life
  • Evidence-based therapies:
    • Cognitive Behavioral Therapy (CBT):
      • Good evidence of benefit
      • Addresses maladaptive thoughts and behaviors
      • Teaches coping strategies
    • Gut-directed hypnotherapy:
      • Good evidence for refractory IBS
      • Addresses gut-brain axis
      • Requires trained therapist
    • Mindfulness and relaxation techniques
    • Psychotherapy if significant psychological issues

6. Follow-up and Review:

  • Regular review to assess response to treatment
  • Adjust management as needed
  • Reassess if:
    • Red flag features develop
    • Significant change in symptoms
    • Symptoms become refractory to treatment
  • Consider specialist referral if refractory

Important Principles:

  • Individualize treatment - different approaches work for different patients
  • Stepwise approach - start with simple measures, escalate if needed
  • Target predominant symptoms
  • Combination therapy often needed (dietary + pharmacological + psychological)
  • Patient involvement in decision-making enhances outcomes
  • Address psychological aspects - integral to condition, not just consequence
  • Realistic expectations - aim for symptom improvement and better quality of life, not cure
  • Avoid over-investigation - can reinforce illness behavior
  • Regular review - IBS fluctuates, treatment may need adjustment
5. How does IBS differ from inflammatory bowel disease (IBD), and what is the relationship between psychological factors and IBS?

IBS vs IBD - Key Differences:

Feature IBS IBD (Crohn's, UC)
Pathology Functional disorder - no structural/biochemical abnormality Chronic inflammatory disease with visible inflammation
Symptoms Abdominal pain, bloating, altered bowel habit. Worse with stress Diarrhoea (often bloody), abdominal pain, weight loss, fever
Nocturnal symptoms Rare - symptoms don't wake patient Common - night-time diarrhoea typical
Rectal bleeding Not typical (only from haemorrhoids/fissures) Common, blood mixed with stool
Weight loss Not a feature Common
Blood tests Normal (FBC, CRP, ESR all normal) Anaemia, raised CRP/ESR, thrombocytosis, hypoalbuminaemia
Faecal calprotectin Normal (\<50 μg/g) Elevated (often >250 μg/g)
Endoscopy Normal macroscopic appearance Visible inflammation, ulceration, strictures
Histology Normal or minimal changes Chronic inflammation, crypt distortion, ulceration
Prognosis Benign, fluctuating, does not progress to serious disease Chronic, may have complications (strictures, fistulas, cancer risk)
Extra-intestinal manifestations None Common (arthritis, skin, eye, liver involvement)
Treatment Lifestyle, diet, symptom-based medication, psychological therapy Anti-inflammatory drugs, immunosuppressants, biologics, surgery

Important Clinical Points:

  • IBS and IBD are distinct conditions that should not be confused
  • Faecal calprotectin is very useful to differentiate - normal in IBS, elevated in IBD
  • Red flag features in "IBS" patient → investigate for IBD and other organic disease
  • Some patients with IBD may have IBS-like symptoms when inflammation controlled
  • Post-infectious IBS can develop after infectious colitis (but not IBD)

Psychological Factors and IBS:

The relationship between psychological factors and IBS is complex, bidirectional, and integral to the condition:

Prevalence of Psychological Comorbidity:

  • 50-90% of IBS patients (especially those seeking medical care) have psychiatric comorbidity
  • Most common: anxiety, depression, somatization
  • Higher rates than in organic GI diseases
  • May precede IBS symptoms or develop subsequently

Mechanisms Linking Psychology and IBS:

  • Gut-brain axis:
    • Bidirectional communication between gut and CNS
    • Stress/emotions affect gut motility, secretion, permeability via:
      • HPA axis activation
      • Autonomic nervous system
      • Neurotransmitters and neuropeptides
    • Conversely, gut signals (from inflammation, distension) affect emotional state
  • Stress exacerbates symptoms:
    • Psychological stress increases gut sensitivity
    • Alters gut motility
    • Affects immune function and gut microbiome
  • Central pain processing:
    • Altered brain processing of visceral signals
    • Reduced pain thresholds
    • Dysfunctional pain modulation
    • Catastrophizing and hypervigilance amplify symptoms
  • Early life factors:
    • Childhood trauma/abuse more common in IBS patients
    • May lead to altered stress response and visceral hypersensitivity

Psychological Factors as Risk Factors:

  • Life stress events may trigger IBS onset
  • Anxiety and depression predict development of IBS
  • Psychological factors predict who develops post-infectious IBS after gastroenteritis

Impact of Psychological Factors:

  • Symptom severity: Psychological distress correlates with symptom severity
  • Healthcare seeking: Those with psychological issues more likely to consult doctors
  • Treatment response: Psychological factors affect response to treatment
  • Quality of life: Psychological comorbidity significantly impairs QoL

Clinical Implications:

  • Holistic assessment essential:
    • Screen for anxiety, depression, stress
    • Ask about life circumstances, coping strategies
    • Explore illness beliefs and concerns
  • Validate but don't dismiss as "psychological":
    • IBS is NOT "all in the mind"
    • Has genuine physiological basis
    • Psychological factors are part of pathophysiology, not separate
    • Explaining gut-brain connection helps patients accept psychological therapies
  • Address psychological aspects in management:
    • Stress management advice for all
    • Consider psychological therapies (CBT, hypnotherapy) for refractory cases
    • Treat comorbid anxiety/depression
    • Build therapeutic relationship - reduces anxiety, improves outcomes
  • Avoid reinforcing illness behavior:
    • Over-investigation can increase anxiety
    • Excessive medicalization may worsen symptoms
    • Empower patient with self-management strategies

Biopsychosocial Model of IBS:

Modern understanding integrates biological, psychological, and social factors:

  • Biological: Genetics, infection, gut physiology
  • Psychological: Stress, anxiety, coping styles, early life experiences
  • Social: Life stressors, social support, illness behavior, healthcare experiences

All interact to produce and perpetuate IBS symptoms. Effective management addresses all three domains.