What is the appropriate workup for a patient with a 10-year history of urinary frequency and terminal dysuria, recent onset of hypogastric pain, epigastric tenderness, and gastrointestinal symptoms, including mushy stools and pain upon defecation, with a family history of cancer?

Workup for Patient with Chronic Urinary Symptoms, Recent GI Symptoms, and Family History of Cancer

This patient requires urgent cystoscopy with urine cytology to evaluate for bladder cancer, given the 10-year history of urinary frequency and terminal dysuria combined with family cancer history, followed by colonoscopy within 30 days if initial bladder workup is negative, to address the acute GI symptoms and cancer risk. 1, 2, 3

Immediate Priority: Urologic Evaluation

The chronic urinary symptoms (10 years of frequency and terminal dysuria) are concerning for bladder malignancy and warrant urgent investigation:

Step 1: Office Cystoscopy and Urine Cytology

• Perform office cystoscopy immediately to visualize the bladder and identify any lesions 1
• Obtain urine cytology around the time of cystoscopy to detect malignant cells from anywhere in the urinary tract 1
• Irritative voiding symptoms (dysuria, frequency, urgency) are particularly common with invasive or high-grade bladder tumors, not just urinary tract infections 1, 2

Step 2: Upper Tract Imaging

• Order CT urography (preferred) or alternative upper tract imaging (MRI urography, intravenous pyelogram, or renal ultrasound with retrograde pyelogram) to evaluate the entire urinary tract 1
• This prevents missing synchronous upper tract urothelial cancer 1

Step 3: If Lesion Identified

• Perform transurethral resection of bladder tumor (TURBT) with bimanual examination under anesthesia for definitive diagnosis 1
• Ensure adequate muscle sampling to prevent understaging 1
• Obtain CT abdomen/pelvis before TURBT if cystoscopy reveals solid tumor or suggests muscle invasion 1

Step 4: Laboratory Testing

• Complete blood count and comprehensive metabolic panel with liver function tests 1
• Alkaline phosphatase level (if elevated, obtain bone scan to evaluate for metastases) 1

Secondary Priority: Gastrointestinal Evaluation

The acute onset (1 week) of hypogastric pain, epigastric tenderness, mushy stools, and pain with defecation requires investigation, particularly given family cancer history:

Colonoscopy Indication

• Schedule colonoscopy within 30 days of symptom presentation, as this timeframe is recommended for patients with alarming symptoms and cancer risk 3
• The combination of abdominal pain, change in bowel habits, and family cancer history warrants diagnostic colonoscopy rather than fecal immunochemical testing (FIT), as FIT is not recommended for symptomatic patients 3
• Family history of cancer increases risk for early-onset colorectal cancer (eoCRC), which affects 13% of cases with hereditary syndromes and 28% with family history 3

Pre-Colonoscopy Evaluation

• Detailed family cancer history including all cancer types in first- and second-degree relatives, ages at diagnosis, and specific cancer sites to identify hereditary syndromes 3
• Individuals with ≥2 first-degree relatives with colorectal cancer or ≥1 first-degree relative diagnosed before age 50-60 have significantly increased risk 3
• Abdominal/pelvic CT if not already obtained for urologic workup 3
• Consider PREMM5 or Colon Cancer Risk Assessment Tool to determine likelihood of Lynch syndrome 3

Additional GI Considerations

• Rule out infectious causes of acute diarrhea (stool culture, ova and parasites if clinically indicated) 3
• Evaluate for bile acid malabsorption or small bowel bacterial overgrowth if diarrhea persists, as these are common causes of chronic diarrhea that may be unrelated to cancer treatment history 3
• GI symptoms starting acutely are frequently not related to prior cancer treatments in family members, and many patients have multiple causes for symptoms 3

Critical Pitfalls to Avoid

• Do not attribute chronic urinary symptoms to benign causes (e.g., UTI, overactive bladder) without cystoscopic evaluation in a patient with family cancer history 1, 2
• Do not delay colonoscopy by using FIT as a triage tool in symptomatic patients, as this leads to diagnostic delays and advanced-stage disease 3
• Do not perform inadequate muscle sampling during TURBT if lesion is found, as this leads to understaging 1
• Do not overlook upper tract imaging, which is essential to avoid missing synchronous malignancies 1
• Do not assume GI symptoms are related to urologic pathology without proper investigation, as these may represent separate disease processes 3

Family History Documentation

Obtain comprehensive three-generation pedigree including:

• All cancer diagnoses in first- and second-degree relatives 3
• Ages at cancer diagnosis 3
• Current ages or ages at death of relatives 3
• Patient-reported family history for first-degree relatives is highly accurate for breast and colon cancer (positive likelihood ratios 8.9-23.0) 4

Timeline for Workup

1. Immediate (within 1 week): Office cystoscopy, urine cytology, upper tract imaging, laboratory tests 1
2. Within 30 days: Colonoscopy if bladder workup negative or concurrent with bladder cancer treatment planning 3
3. Ongoing: Annual urinalysis if initial urologic workup negative, given persistent symptoms 3