From the Guidelines
Charcot-Marie-Tooth disease (CMT) is not directly associated with pleural effusion, and the management of pleural effusion in patients with CMT should focus on treating the underlying cause of the effusion, rather than the CMT itself. CMT is a hereditary peripheral neuropathy that affects the nerves controlling muscles, causing muscle weakness and atrophy, primarily in the extremities [ 1 ]. Pleural effusion, which is an abnormal accumulation of fluid in the pleural space surrounding the lungs, is not a typical manifestation or complication of CMT. If a patient with CMT develops pleural effusion, it is likely due to an unrelated condition such as heart failure, infection, malignancy, or pulmonary embolism.
The diagnostic approach to pleural effusion in patients with CMT should include a careful history and physical examination, as well as standard evaluation including chest imaging, thoracentesis if indicated, and appropriate laboratory testing to determine the cause of the pleural effusion [ 1 ]. Thoracic ultrasound (TUS) is a useful diagnostic tool that can help identify the size and character of the effusion, as well as signs of malignancy [ 1 ]. If malignancy is suspected, a CT scan of the chest, abdomen, and pelvis should be performed [ 1 ].
The management of pleural effusion in patients with CMT would depend on the underlying cause of the effusion. For example, infectious effusions would require appropriate antibiotics, while malignant effusions might need drainage procedures and oncologic treatment [ 1 ]. Patients with CMT who develop respiratory symptoms should undergo prompt evaluation and treatment to prevent complications and improve outcomes. The presence of CMT should not significantly alter the diagnostic approach or management of pleural effusion, though respiratory muscle weakness from advanced CMT might complicate respiratory function and recovery.
Some key points to consider in the management of pleural effusion in patients with CMT include:
- A careful history and physical examination to identify the underlying cause of the effusion
- Standard evaluation including chest imaging, thoracentesis if indicated, and appropriate laboratory testing
- Thoracic ultrasound (TUS) to identify the size and character of the effusion and signs of malignancy
- CT scan of the chest, abdomen, and pelvis if malignancy is suspected
- Prompt treatment of the underlying cause of the effusion, such as antibiotics for infectious effusions or drainage procedures and oncologic treatment for malignant effusions.
From the Research
Charcot Marie Tooth Disease and Pleural Effusion
- Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy characterized by progressive atrophy of distal muscles 2.
- Respiratory complications, including pleural effusion, are rare in CMT patients, but can occur due to various underlying conditions 3.
- The most common causes of pleural effusion are congestive heart failure, cancer, pneumonia, and pulmonary embolism 3.
Respiratory Complications in CMT
- CMT can be associated with several disorders that may affect pulmonary function, including restrictive pulmonary impairment, sleep apnea, and vocal cord dysfunction 4.
- Phrenic nerve paralysis and pneumothorax with a funnel chest have been reported in a CMT patient with a genetic mutation of MFN2 2.
- Noninvasive positive pressure ventilation can be an effective treatment for respiratory symptoms in CMT patients 2.
Diagnosis and Treatment of Pleural Effusion
- Precise differential diagnostic categorization is essential for the treatment and prognosis of pleural effusion 3.
- Pleural fluid puncture (pleural tap) enables the differentiation of a transudate from an exudate, which is the foundation of the further diagnostic work-up 3.
- Treatment of pleural effusion ranges from pleurodesis, to thoracoscopy and video-assisted thoracoscopy, to the placement of a permanently indwelling pleural catheter 3.