Why would someone with muscular dystrophy see a hematologist (heme)/infectious disease (inc) doctor?

Why Patients with Muscular Dystrophy May See a Hematologist/Infectious Disease Specialist

Patients with muscular dystrophy, particularly Duchenne muscular dystrophy (DMD), may need to see a hematologist or infectious disease specialist primarily for management of respiratory complications, immunization needs, and occasionally for blood abnormalities that can occur with the disease.

Respiratory Complications Requiring Specialist Care

• Patients with DMD experience progressive loss of respiratory muscle strength, leading to ineffective cough, decreased ventilation, pneumonia, atelectasis, and respiratory insufficiency 1
• These respiratory complications often require consultation with specialists, including infectious disease physicians, especially when dealing with recurrent or severe respiratory infections 1
• Respiratory infections in DMD patients can rapidly deteriorate, requiring specialized management and potentially antimicrobial therapy guided by infectious disease specialists 1

Immunization and Infection Prevention

• All patients with DMD should receive the pneumococcal vaccine and annual influenza vaccination to prevent respiratory infections 1
• Infectious disease specialists may be consulted to optimize immunization schedules and manage breakthrough infections in these vulnerable patients 1
• Patients with advanced DMD have higher susceptibility to infections, particularly respiratory infections, which may necessitate specialized infectious disease management 1

Hematological Considerations

• Though rare, hematological abnormalities have been reported in some forms of muscular dystrophy, such as hemolytic anemia in myotonic muscular dystrophy 2
• Routine laboratory studies recommended for wheelchair-dependent DMD patients include complete blood count, which may identify hematological abnormalities requiring specialist consultation 1
• Hematologists may be involved in the care of DMD patients requiring surgery to manage bleeding risks or anemia 1

Multidisciplinary Care Approach

• Guidelines specifically recommend that patients with DMD should have access to specialists across multiple disciplines as part of comprehensive care 1
• The American Thoracic Society consensus statement emphasizes that DMD patients should have access to specialists in pulmonology, neurology, cardiology, and other specialties as needed 1
• When DMD patients are hospitalized with acute illnesses, consultation with specialists including hematologists and infectious disease physicians may be necessary for optimal management 1

Special Considerations

• Patients with DMD on long-term glucocorticoid therapy (a common treatment) may have altered immune responses and increased infection risks, potentially requiring infectious disease specialist input 1
• During acute respiratory deteriorations, DMD patients may require specialized care coordination between their primary neuromuscular team and other specialists including infectious disease physicians 1
• Hematologists may be consulted for management of potential blood dyscrasias or coagulation issues that could arise in advanced muscular dystrophy or as complications of immobility 1

Practical Approach to Specialist Referrals

• Referral to hematology/infectious disease should be considered when DMD patients present with:
  • Recurrent or severe respiratory infections 1
  • Abnormal complete blood count findings 1
  • Need for specialized immunization planning 1
  • Preparation for surgical procedures requiring hematological optimization 1
  • Unexplained fever or signs of systemic infection 1

While muscular dystrophy is primarily managed by neuromuscular specialists, the multisystem nature of the disease and its complications often necessitate involvement of hematologists and infectious disease specialists to optimize patient outcomes and quality of life.