What specialist should a patient with amyloidosis consult?

Specialist Consultation for Amyloidosis

Patients with amyloidosis require a multidisciplinary team approach led by a hematologist as the primary specialist, with additional consultation from a cardiologist when cardiac involvement is present. 1

Primary Specialist: Hematologist

A hematologist should be the primary specialist coordinating care for patients with amyloidosis for the following reasons:

• AL amyloidosis most commonly results from a clonal plasma cell disorder, requiring chemotherapy and/or immunotherapy directed by a hematologist 1
• Hematologists are responsible for:
  • Evaluating abnormal monoclonal protein screens
  • Directing plasma cell-targeted therapies
  • Assessing candidacy for stem cell transplantation
  • Monitoring hematologic response to treatment 1

Essential Collaborating Specialists

Cardiologist

• Required when cardiac involvement is present (occurs in both AL and ATTR amyloidosis)
• Responsibilities include:
  • Monitoring for cardiac decompensation during treatment
  • Assessing cardiovascular fitness for high-dose melphalan with autologous stem cell transplantation
  • Evaluating candidacy for heart transplantation when indicated
  • Managing heart failure, arrhythmias, and thromboembolism 1

Nephrologist (when kidney involvement exists)

• Kidney involvement occurs in approximately 70% of AL amyloidosis patients
• Manages nephrotic syndrome and progressive loss of kidney function
• Provides specialized assessment of kidney function, as standard creatinine measurements may overestimate GFR due to muscle wasting 1

Gastroenterologist (when GI symptoms are present)

Referral indicated for:

• Symptoms not responding to standard treatments
• Significant malnutrition or unexplained weight loss
• Need for endoscopy/colonoscopy for diagnostic biopsies
• Management of complications including malabsorption and GI bleeding 1

Treatment Approach

Treatment is directed by the hematologist and depends on amyloidosis type:

1. For AL amyloidosis:

   • Primary treatment targets the aberrant plasma cells using chemotherapy/immunotherapy
   • Treatment options include:
     • Daratumumab with bortezomib, cyclophosphamide, and dexamethasone (preferred first-line)
     • High-dose melphalan with autologous stem cell transplantation in eligible patients 1

2. Monitoring during treatment:

   • Cardiac monitoring is essential due to potential cardiotoxicity of treatments
   • Regular assessment of hematologic response and organ function 1

Special Considerations

• Diagnostic complexity: AL amyloidosis requires both demonstration of tissue amyloid deposits and evidence of a plasma cell dyscrasia, necessitating specialized hematologic expertise 1
• Cardiac risk: Cardiac involvement is the leading cause of morbidity and mortality in amyloidosis, requiring close cardiologist involvement 2
• Treatment toxicity: Patients with AL amyloidosis are at higher risk for treatment-related toxicity compared to those with multiple myeloma, requiring careful regimen selection by an experienced hematologist 1

Common Pitfalls to Avoid

1. Delayed diagnosis: Symptoms of amyloidosis are often nonspecific and vague, leading to delayed diagnosis and poorer outcomes
2. Inadequate typing: Failure to accurately distinguish between AL and ATTR amyloidosis can lead to inappropriate treatment
3. Overlooking cardiac involvement: Even in the absence of cardiac symptoms, cardiac assessment is essential as cardiac amyloidosis can present primarily as autonomic dysfunction 2
4. Relying solely on SPEP/UPEP: These tests have lower sensitivity for detecting monoclonal proteins in AL amyloidosis and should not be used alone to exclude the diagnosis 1

In summary, while multiple specialists may be involved in amyloidosis care, the hematologist serves as the primary specialist coordinating treatment, with cardiologists playing a crucial supportive role when cardiac involvement is present.