What is the management approach for patients with Charcot-Marie-Tooth (CMT) disease experiencing syncope and panic?

Management of Syncope and Panic in Patients with Charcot-Marie-Tooth Disease

For patients with Charcot-Marie-Tooth (CMT) disease experiencing syncope and panic symptoms, a comprehensive diagnostic evaluation is essential to determine the underlying cause, with psychiatric assessment strongly recommended when syncope is accompanied by multiple somatic complaints and anxiety features. 1

Initial Evaluation

History and Physical Assessment

• Obtain detailed information about:
  • Position during syncope (supine, sitting, standing)
  • Activity at onset (rest, posture change, exercise, urination, etc.)
  • Predisposing factors (crowded places, prolonged standing)
  • Prodromal symptoms (nausea, sweating, aura, blurred vision)
  • Eyewitness accounts (manner of falling, skin color, duration of unconsciousness)
  • Post-event symptoms (confusion, muscle aches, injuries) 1
• Assess for CMT-specific features that might contribute to syncope:
  • Peripheral neuropathy severity
  • Gait abnormalities and balance issues
  • Foot deformities (cavus foot) 2

Diagnostic Testing

1. Basic laboratory tests (only if volume depletion or metabolic causes suspected) 1
2. 12-lead ECG (mandatory for all patients) 3
3. Orthostatic BP measurements to assess for autonomic dysfunction 3
4. Echocardiography if heart disease is suspected 1

Specific Diagnostic Pathway

For Suspected Cardiac Syncope:

1. Echocardiography
2. Prolonged ECG monitoring (Holter, external or implantable loop recorder)
3. If non-diagnostic, proceed to electrophysiological studies 1, 3

For Suspected Neurally Mediated Syncope:

1. Tilt testing (especially for younger patients)
2. Carotid sinus massage (for patients >40 years)
3. If negative, consider prolonged ECG monitoring and implantable loop recorder 1

For Suspected Psychiatric Causes:

• Psychiatric assessment is strongly indicated when patients present with:
  • Frequent recurrent syncope
  • Multiple other somatic complaints
  • Features suggesting stress, anxiety, or other psychiatric disorders 1

Management Approach

For Cardiac Syncope:

• Treatment targeting the specific structural cardiac lesion or arrhythmia
• Cardiac pacing for cardioinhibitory or mixed carotid sinus syndrome 3

For Neurally Mediated Syncope:

• Patient education on triggers and prodromal symptoms
• Physical counter-pressure maneuvers
• Consider pharmacological therapy:
  • Midodrine
  • Fludrocortisone
  • Increased salt and fluid intake 3

For Panic and Psychiatric Components:

• Psychiatric consultation for formal assessment
• Consider cognitive behavioral therapy
• Appropriate psychiatric medications if indicated 1

CMT-Specific Considerations:

• Rehabilitation program tailored to CMT to improve balance and reduce fall risk 4
• Addressing foot deformities that may contribute to instability 2
• Management of pain and sensory symptoms that may exacerbate anxiety 5

Risk Stratification and Disposition

High-Risk Features (Require Hospital Admission):

• Suspected or known significant heart disease
• ECG abnormalities suggesting arrhythmic syncope
• Syncope during exercise
• Syncope causing severe injury
• Family history of sudden death 3

Low-Risk Features (Can Be Managed Outpatient):

• Presumptive vasovagal syncope without serious medical conditions
• Recurrent episodes similar to previously diagnosed episodes
• No injury or concerning features 3

Follow-up and Monitoring

• Ensure cause of syncope has been identified or risk stratified
• Initiate appropriate treatment based on etiology
• Provide patient education on diagnosis and prognosis
• Arrange appropriate follow-up with relevant specialists 3
• Consider multidisciplinary approach involving neurology, cardiology, psychiatry, and rehabilitation medicine given the complexity of CMT 5

Special Considerations in CMT

• Recognize that CMT patients may have unique contributing factors to syncope and panic:
  • Autonomic dysfunction may be present in some CMT subtypes
  • Balance issues and gait instability may contribute to falls misinterpreted as syncope
  • Chronic pain and disability may contribute to anxiety and panic symptoms 5
• Assess for polypharmacy and drug interactions that may contribute to syncope 3
• Consider driving restrictions based on frequency and severity of syncope 3

By following this structured approach, clinicians can effectively diagnose and manage syncope and panic symptoms in patients with CMT, improving quality of life and reducing morbidity.