Can Turner syndrome cause abdominal pain?

Turner Syndrome and Abdominal Pain

Turner syndrome can cause abdominal pain through several mechanisms, most notably aortic dissection, which represents a life-threatening emergency requiring immediate medical attention. 1

Cardiovascular Causes of Abdominal Pain in Turner Syndrome

Aortic Dissection

• Women with Turner syndrome have a significantly increased risk of aortic dissection compared to the general population 1
• Population-based data shows an aortic dissection incidence of 36:100,000 Turner syndrome years (1.4% among individuals with Turner syndrome) compared with 6:100,000 in the general population 1
• 85% of dissections occur in the ascending aorta (Type A) and 15% in the descending aorta (Type B) 1
• Dissection can present with:
  • Abrupt onset of severe, sharp or stabbing pain 1
  • Pain may be perceived in the abdomen, especially with Type B dissections 1
  • Pain may migrate as the dissection extends 1

Risk Factors for Aortic Dissection in Turner Syndrome

• Bicuspid aortic valve (present in 10-25% of patients) 1
• Aortic coarctation (present in approximately 8% of patients) 1
• Systemic hypertension 1
• Aortic dilatation (present in approximately 33% of patients) 1
• The average age of aortic dissection in Turner syndrome is 31 years 1

Monitoring and Prevention

• All patients with Turner syndrome should receive:
  • Baseline TTE and cardiac MRI at diagnosis to evaluate for BAV, aortic dilation, and coarctation 1
  • For patients ≥15 years old, aortic size index (ASI) calculation is recommended to assess dissection risk 1
  • Regular surveillance imaging based on risk factors 1
  • Strict blood pressure control 1

Other Potential Causes of Abdominal Pain in Turner Syndrome

Gastrointestinal Issues

• Turner syndrome is associated with several autoimmune conditions that can cause abdominal pain 2, 3
• Celiac disease is more common in Turner syndrome and can present with abdominal pain 3
• Inflammatory bowel disease may be more prevalent 2

Gynecological Causes

• Ovarian dysgenesis and structural abnormalities of the reproductive system can sometimes cause pelvic/abdominal pain 2, 4

Urological Causes

• Renal malformations occur in Turner syndrome and may cause abdominal pain 5

Evaluation of Abdominal Pain in Turner Syndrome Patients

Immediate Assessment for Possible Aortic Dissection

• Any sudden, severe abdominal, back, or chest pain in a Turner syndrome patient should prompt immediate evaluation for aortic dissection 1
• Vital signs with focus on blood pressure (both arms)
• Immediate imaging with CT angiography or MRI of the aorta if dissection is suspected

Other Evaluations Based on Presentation

• Complete blood count, comprehensive metabolic panel
• Urinalysis
• Abdominal imaging as appropriate
• Screening for celiac disease and other autoimmune conditions if chronic or recurrent pain

Management Approach

For Suspected Aortic Dissection

• Immediate transfer to emergency department
• Strict blood pressure control
• Surgical consultation for potential aortic repair, especially if:
  • ASI ≥2.5 cm/m² with risk factors for dissection 1
  • Evidence of dissection or rupture

Preventive Management

• Regular cardiovascular screening per guidelines 1
• Aggressive blood pressure management
• Consideration of prophylactic surgery for significant aortic dilation
• Beta-blockers may be considered to reduce the rate of aortic dilatation 1

Key Points for Clinicians

• Always consider aortic dissection in a Turner syndrome patient with acute abdominal pain
• Understand that Turner syndrome patients may develop dissection at smaller absolute aortic diameters due to their smaller body size 1
• Less than half of patients survive aortic dissection events in Turner syndrome 1
• Regular cardiovascular monitoring is essential throughout the patient's lifetime 1

Turner syndrome patients require lifelong surveillance for cardiovascular complications, with particular attention to aortic pathology that can manifest as acute abdominal pain in emergency situations.