What are the common symptoms and lab findings in ovarian cancer, particularly in adult women over 50 with a family history of breast or ovarian cancer?

Symptoms and Laboratory Findings in Ovarian Cancer

Clinical Presentation

Ovarian cancer typically presents with nonspecific abdominal and pelvic symptoms, with approximately 95% of patients experiencing symptoms at diagnosis, though these are often vague and easily attributed to other conditions. 1

Common Symptoms

• Abdominal pain and bloating are the most frequently reported symptoms 2, 1
• Pelvic or abdominal pain occurs commonly and may be persistent 2
• Difficulty eating or feeling full quickly (early satiety) is characteristic 2
• Urinary symptoms including urgency and frequency without other obvious cause 2, 1
• Abdominal distension and ascites develop in advanced disease, particularly when combined with lower extremity edema, forming a triad that is pathognomonic for advanced ovarian cancer 3

Physical Examination Findings

• Palpable pelvic or abdominal mass detected on abdominal/pelvic examination 2
• Ascites is common in advanced presentations 2, 3
• Lower extremity edema when present with ascites and abdominal distension strongly suggests advanced disease 3

Laboratory and Diagnostic Findings

Serum Tumor Markers

• CA-125 is elevated in 80-85% of epithelial ovarian cancers and serves as the primary diagnostic marker 3, 1
• Additional tumor markers including CA 19-9 and carcinoembryonic antigen (CEA) should be obtained as clinically indicated 2, 1

Initial Laboratory Workup

• Complete blood count (CBC) to assess for anemia or other hematologic abnormalities 2
• Comprehensive metabolic panel with liver function tests to evaluate for metastatic disease and surgical candidacy 2

Imaging Studies

• Transvaginal or abdominal ultrasound as initial imaging modality 2, 4
• Abdominal/pelvic CT scan to identify ovarian masses, peritoneal carcinomatosis, and quantify ascites 3
• Chest imaging to evaluate for pleural effusion and pulmonary metastases 2, 3

Special Considerations for High-Risk Populations

Women Over 50 with Family History

• The median age at diagnosis is 61-63 years, with more than 80% of cases occurring in women over 50 2, 5, 1
• Women with family history of breast or ovarian cancer have substantially elevated risk, particularly those with two or more first-degree relatives affected 2, 6

Genetic Testing Indications

• Genetic testing for BRCA1/2 mutations should be considered regardless of family history, as nearly half of BRCA mutation carriers lack a reported family history of cancer 3, 5
• BRCA1 mutations confer 15-45% lifetime risk of ovarian cancer, while BRCA2 mutations confer 10-20% lifetime risk 2, 5
• Women with hereditary ovarian cancer develop disease approximately 10 years earlier than those with sporadic disease 2, 5
• Consider Lynch syndrome testing, particularly if histology shows endometrioid or clear-cell carcinoma 5

High-Risk Screening Approach

• Women with strong family history (≥2 first-degree relatives with ovarian cancer) should receive annual rectovaginal pelvic examinations, CA-125 measurements, and transvaginal ultrasound 2
• Young breast cancer patients with family history of breast or ovarian cancer have greatly elevated ovarian cancer risk (SIR 17.0 for those with family history of ovarian cancer) and may warrant prophylactic oophorectomy discussion 6

Critical Pitfalls to Avoid

• Do not dismiss vague abdominal symptoms in postmenopausal women, as approximately 80% of ovarian cancers present at advanced stage (III-IV) despite symptoms being present 1
• Do not rely on family history alone to assess genetic risk, as 44% of patients with high-grade serous ovarian cancer and germline BRCA mutations do not report family history 2
• Do not assume normal CA-125 excludes ovarian cancer, as 15-20% of epithelial ovarian cancers will have normal CA-125 levels 3
• Ensure evaluation by a gynecologic oncologist before determining surgical candidacy, as primary assessment and debulking by a gynecologic oncologist confers survival advantage 2