Treacher Collins syndrome

1) Disease Description (Causes and Symptoms)

• Definition: Crohn’s disease is a chronic, relapsing inflammatory bowel disease (IBD) that can occur anywhere in the digestive tract from the mouth to the anus. It can cause inflammation in all layers of the intestine (transmural), and lesions characteristically appear separated by normal mucosa (segmental, skip lesions).
• Causes (summary): The exact cause is unknown, but a combination of genetic predisposition, an abnormal immune response to the gut microbiota, environmental factors (such as smoking), and possible infectious causes (e.g., the mycobacterial hypothesis) are involved.
• Key pathophysiology: Chronic inflammation of the intestinal mucosa → formation of ulcers, fibrosis, fistulas, and abscesses → intestinal strictures, fistulas, malabsorption, and systemic symptoms. Extraintestinal manifestations involving the joints, skin, eyes, liver, and other organs may occur.
• Main symptoms:
  • Abdominal pain (mainly in the lower abdomen), diarrhea (possibly with blood or mucus), weight loss, fever, and fatigue
  • High frequency of perianal disease (abscesses, fistulas, anal fistulas)
  • Repeated periods of exacerbation and remission
  • Extraintestinal manifestations: arthritis, skin lesions, eye inflammation, osteoporosis, etc.

2) Treatment Methods and Precautions

• Goals: Relieve acute symptoms (induce remission), prevent and treat complications, maintain long-term remission, and improve quality of life
• Drug treatment (general standard)
  • Induction therapy (acute phase)
    • Topical and systemic corticosteroids (e.g., prednisone, oral budesonide, which is advantageous for ileocecal lesions) — effective for suppressing acute inflammation, but long-term use as maintenance therapy is not recommended.
  • Maintenance therapy
    • Immunomodulators: azathioprine, 6‑mercaptopurine (6‑MP), methotrexate (in certain situations) — used in patients who are steroid-dependent or have repeated relapses.
    • Biologics: anti-TNF agents (infliximab [Remicade], adalimumab [Humira], certolizumab, etc.), anti-α4β7 (vedolizumab), anti-IL‑12/23 (ustekinumab) — for moderate to severe disease or cases that are refractory or dependent on existing therapies.
    • Small-molecule therapies: In some countries, JAK inhibitors (e.g., upadacitinib) have been approved for use in severe Crohn’s disease (see country-specific guidelines).
  • Adjunctive treatment
    • Antibiotics: metronidazole, ciprofloxacin — used for abscesses, fistulas, or symptoms related to intestinal bacterial overgrowth.
    • Anti-inflammatory aminosalicylate drugs (sulfasalazine/mesalamine): used for symptom relief and maintenance in some patients, but they are not effective for Crohn’s disease in all locations.
    • Supplementation for anemia and nutritional deficiencies: iron, vitamin B12, vitamin D, calcium, etc.
• Procedures/Surgery
  • Indications: Intractable bleeding, obstruction (severe stricture), complex fistulas/abscesses (requiring drainage or surgery), toxic megacolon, intestinal perforation, and severe disease that does not respond to drug treatment, among others.
  • Surgery does not completely cure the lesions (recurrence is possible), so it is performed to treat complications or preserve function.
  • Perianal abscesses are managed with early drainage and, when necessary, seton insertion, etc.
• Lifestyle management and precautions
  • Smoking cessation: Smoking is associated with disease aggravation, an increased relapse rate, and an increased risk of postoperative recurrence — smoking cessation is recommended.
  • Infection risk management: When using immunosuppressants or biologics, tuberculosis and hepatitis testing (IGRA and chest X-ray, HBsAg/HBcAb, etc.) and appropriate vaccinations are necessary (inactivated vaccines are recommended; live vaccines are limited).
  • Monitoring by medication: TPMT testing is recommended before using thiopurines, and regular blood tests (liver function and CBC) are necessary.
  • Monitor the adverse effects of long-term steroid use (osteoporosis, hypertension, diabetes, etc.) and aim to use the lowest dose for the shortest duration.
  • Pregnancy and breastfeeding: Some medications (e.g., methotrexate) are contraindicated because of the risk of birth defects — medication adjustment is necessary when planning a pregnancy.
• Risk of complications
  • Intestinal strictures/obstruction, fistulas/abscesses, bleeding, intestinal perforation, malnutrition, osteoporosis, and colorectal cancer (the risk increases with long-term chronic inflammation)
• Prognosis
  • Chronic, relapsing course; approximately 50% of patients experience the need for surgery due to complications during treatment, and the likelihood of recurrence remains high even after surgery.

3) Checklist Before an Outpatient Visit (Examples of Items to Prepare and Records to Keep)

• Items/documents to bring
  • A list of currently used medications (including prescription drugs, OTC medications, and supplements) and recent doses
  • Copies of previous test, imaging, and endoscopy findings (reports and images, if possible)
  • Recent blood and stool test results (if available)
• Items to record before the visit (to provide during the consultation)
  • Changes in symptoms: frequency and characteristics of bowel movements (whether blood or mucus is present), location and severity of abdominal pain (pain score), and whether fever is present
  • Weight changes (over the past several weeks or months)
  • Perianal symptoms during bowel movements (pain, discharge, and whether an abscess is present)
  • Lifestyle changes: smoking status, eating patterns, stress levels, and travel history
  • Reproductive information: pregnancy plans and contraceptive use (especially for women of childbearing age)
• Additional recommended tests (if the physician considers them necessary)
  • Fecal inflammatory marker (fecal calprotectin), blood tests (CBC, CRP, electrolytes, liver function), imaging (abdominal CT/MR enterography), colonoscopy/small-bowel examination

4) Examples of General Questions to Ask the Doctor

• "What are the expected effects and side effects of this medication (or treatment)?"
• "How often should I undergo tests (blood tests/imaging/endoscopy)?"
• "How does my risk of relapse change if I stop taking the medication? What is the goal of maintenance therapy?"
• "What tests (such as tuberculosis and hepatitis B) are needed before starting an immunosuppressant or biologic?"
• "Are there any foods or activities that I should specifically avoid in daily life?"

5) Examples of Disease-Specific Questions

• "I have a perianal abscess or fistula. Which treatment would you recommend first: drainage, seton insertion, or surgery? Is treatment with antibiotics alone possible?"
• "I am planning to start a biologic (e.g., an anti‑TNF agent). How should I prepare for tuberculosis testing and vaccinations (e.g., hepatitis B and shingles vaccines)?"

(Note: The information above is general medical information. Diagnosis and treatment should be determined based on an evaluation by the attending physician.)