Kliniczne aspekty chorób układu pokarmowego 2 | Clinical Aspects of Digestive System Diseases 2

Irritable Bowel Syndrome (IBS)

Irritable Bowel Syndrome (IBS) is a common functional gastrointestinal disorder characterized by chronic abdominal pain and altered bowel habits in the absence of any organic disease. IBS significantly impacts the quality of life and often requires long-term management.

Etiology and Pathophysiology

  • Multifactorial Causes: IBS is believed to result from a combination of factors, including abnormal gastrointestinal motility, visceral hypersensitivity, altered gut-brain interactions, and psychological factors such as stress and anxiety.
  • Gut Microbiota: Alterations in the gut microbiome may play a role in the development of IBS symptoms.
  • Food Sensitivities: Certain foods can trigger IBS symptoms, though specific sensitivities vary among individuals.

Clinical Manifestations

  • Abdominal Pain: Recurrent or chronic pain often related to bowel movements. The pain may be crampy, dull, or sharp and is typically relieved by defecation.
  • Altered Bowel Habits: This includes diarrhea (IBS-D), constipation (IBS-C), or alternating patterns of both (IBS-M).
  • Bloating and Gas: Patients frequently report a sensation of bloating or excessive gas.
  • Mucus in Stool: Some individuals with IBS may notice mucus in their stool.

Diagnostic Approach

  • Rome IV Criteria: Diagnosis is primarily clinical, based on the Rome IV criteria, which require recurrent abdominal pain on average at least one day per week in the last three months, associated with two or more of the following: related to defecation, associated with a change in stool frequency, or associated with a change in stool form.
  • Exclusion of Other Conditions: Laboratory tests, stool studies, and imaging may be performed to exclude other conditions, such as celiac disease or inflammatory bowel disease.

Treatment Options

  • Dietary Modifications: A low FODMAP diet (reducing fermentable oligosaccharides, disaccharides, monosaccharides, and polyols) can be effective in reducing symptoms.
  • Medications:
    • Antispasmodics: Help relieve abdominal pain and cramping.
    • Laxatives or Antidiarrheal Agents: Depending on whether the predominant symptom is constipation or diarrhea.
    • Probiotics: May help balance gut microbiota.
    • Psychotropic Medications: Low-dose antidepressants can help manage pain and other symptoms in some patients.
  • Psychological Therapies: Cognitive-behavioral therapy, hypnotherapy, and stress management techniques can be beneficial for some individuals.

Prognosis

  • Chronic Condition: IBS is a chronic condition that requires ongoing management, but it does not lead to more serious diseases like cancer or inflammatory bowel disease.
  • Quality of Life Impact: While IBS can significantly affect quality of life, with appropriate management, many individuals can achieve symptom control and lead normal lives.

Celiac Disease

Celiac Disease is an autoimmune disorder where ingestion of gluten leads to damage in the small intestine. It is a common condition, particularly in populations of European descent, and requires lifelong dietary management.

Etiology and Pathophysiology

  • Autoimmune Response: In individuals with celiac disease, the ingestion of gluten triggers an immune response that damages the villi in the small intestine, leading to malabsorption of nutrients.
  • Genetic Predisposition: Celiac disease is strongly associated with certain genetic markers, particularly HLA-DQ2 and HLA-DQ8.
  • Environmental Triggers: In addition to genetic factors, environmental triggers such as early introduction of gluten in infancy or gastrointestinal infections may play a role.

Clinical Manifestations

  • Gastrointestinal Symptoms: Diarrhea, steatorrhea (fatty stools), bloating, and abdominal pain are common, especially in classic cases.
  • Extraintestinal Symptoms: These can include iron-deficiency anemia, osteoporosis, neurological symptoms (e.g., peripheral neuropathy), and dermatitis herpetiformis (a skin rash).
  • Failure to Thrive in Children: In children, celiac disease can lead to growth retardation, delayed puberty, and behavioral changes.

Diagnostic Approach

  • Serological Tests: Screening typically involves serological tests for anti-tissue transglutaminase (tTG) antibodies and anti-endomysial antibodies (EMA).
  • Duodenal Biopsy: A definitive diagnosis is made by confirming villous atrophy on a biopsy of the small intestine during an upper endoscopy.
  • Genetic Testing: HLA-DQ2 and HLA-DQ8 testing can help exclude celiac disease in ambiguous cases, as these genes are present in the majority of affected individuals.

Treatment Options

  • Gluten-Free Diet: The cornerstone of treatment is a strict, lifelong gluten-free diet, which involves avoiding all foods containing wheat, barley, and rye.
  • Nutritional Support: Patients may need supplementation with vitamins and minerals, such as iron, calcium, vitamin D, and B vitamins, especially during the initial phase of treatment.
  • Regular Monitoring: Ongoing follow-up with a healthcare provider is important to monitor adherence to the diet and to screen for potential complications, such as osteoporosis.

Prognosis

  • Excellent Prognosis with Adherence: With strict adherence to a gluten-free diet, most patients experience symptom resolution and a return to normal intestinal function.
  • Risk of Complications: Untreated or poorly managed celiac disease can lead to serious complications, including malnutrition, osteoporosis, infertility, and an increased risk of certain cancers, such as lymphoma.

Cirrhosis of the Liver

Cirrhosis is the final stage of chronic liver disease, characterized by the replacement of normal liver tissue with fibrous scar tissue. This condition severely impairs liver function and is associated with various complications, including liver failure, portal hypertension, and an increased risk of liver cancer.

Etiology and Pathophysiology

  • Chronic Alcohol Consumption: Prolonged and excessive alcohol intake is a leading cause of cirrhosis, as it leads to chronic liver inflammation and scarring.
  • Chronic Viral Hepatitis: Hepatitis B and C infections are major contributors to cirrhosis due to the persistent liver inflammation they cause.
  • Non-Alcoholic Fatty Liver Disease (NAFLD): A condition associated with obesity and metabolic syndrome, NAFLD can progress to non-alcoholic steatohepatitis (NASH) and eventually cirrhosis.
  • Other Causes: Autoimmune hepatitis, genetic disorders (e.g., hemochromatosis, Wilson’s disease), and bile duct diseases (e.g., primary biliary cholangitis) can also lead to cirrhosis.

Clinical Manifestations

  • Early Stage: Patients may be asymptomatic or present with nonspecific symptoms such as fatigue, weakness, and weight loss.
  • Jaundice: Yellowing of the skin and eyes due to the accumulation of bilirubin in the blood, reflecting impaired liver function.
  • Ascites: Accumulation of fluid in the abdominal cavity, often due to portal hypertension.
  • Hepatic Encephalopathy: Confusion, altered level of consciousness, and coma resulting from the accumulation of toxins (e.g., ammonia) that the liver is unable to detoxify.
  • Esophageal Varices: Enlarged veins in the esophagus that can bleed profusely due to increased pressure in the portal vein (portal hypertension).
  • Spider Angiomas and Palmar Erythema: Vascular signs seen in chronic liver disease due to altered hormone metabolism.

Diagnostic Approach

  • Liver Function Tests (LFTs): Elevated liver enzymes (ALT, AST), bilirubin, and alkaline phosphatase can indicate liver damage. Decreased albumin and prolonged prothrombin time suggest advanced liver dysfunction.
  • Imaging: Ultrasound, CT, or MRI can reveal liver size, texture, and the presence of nodules, ascites, or varices. Transient elastography (FibroScan) assesses liver stiffness as a non-invasive measure of fibrosis.
  • Liver Biopsy: Although less commonly performed today, biopsy remains the gold standard for diagnosing cirrhosis and assessing its severity.

Treatment Options

  • Lifestyle Modifications: Abstinence from alcohol, weight loss in NAFLD patients, and a healthy diet are crucial in managing cirrhosis and preventing further liver damage.
  • Medications:
    • Antiviral Therapy: For hepatitis B or C to reduce viral load and prevent further liver damage.
    • Diuretics: To manage ascites and edema.
    • Beta-Blockers: To reduce portal hypertension and the risk of variceal bleeding.
    • Lactulose: For managing hepatic encephalopathy by reducing ammonia levels.
  • Management of Complications: Endoscopic banding or sclerotherapy for variceal bleeding, paracentesis for large ascites, and liver transplantation for end-stage liver disease.
  • Regular Monitoring: Surveillance for hepatocellular carcinoma (HCC) with ultrasound and alpha-fetoprotein (AFP) testing is essential for early detection of liver cancer in cirrhotic patients.

Prognosis

  • Variable: The prognosis of cirrhosis depends on the underlying cause, the extent of liver damage, and the presence of complications. Early diagnosis and management can slow progression, but cirrhosis is generally a progressive condition.
  • End-Stage Disease: Patients with advanced cirrhosis may require liver transplantation, which can significantly improve survival and quality of life.