Is amyloidosis (a group of diseases caused by abnormal amyloid protein) becoming more prevalent?

Increasing Prevalence of Amyloidosis: Trends and Implications

Yes, amyloidosis is becoming more prevalent across multiple types, with AL amyloidosis incidence doubling in recent years and ATTR amyloidosis now recognized as the most common form due to improved diagnostic capabilities. 1, 2

Current Epidemiological Trends

AL Amyloidosis

• Prevalence has more than doubled in the US from 20.1 to 50.1 cases per million people between 2007 and 2015 1
• In Europe, prevalence ranges from 58 cases per million in France to 65 cases per million in Italy 1
• Incidence varies regionally:
  • 12 cases per million per year in Minnesota (US), Limousine (France), and Florence (Italy) 1
  • 8 cases per million per year in Uppsala region (Sweden) 1
  • 3-6 cases per million per year at national levels in UK, Sweden, and the Netherlands 1

ATTR Amyloidosis

• Now recognized as the most common type of amyloidosis due to increased identification of age-related ATTR (ATTRwt) 2, 3
• Proportion of ATTR amyloidosis cases has increased from 12% to 29% of all amyloidosis diagnoses over three decades 3
• Particularly notable increases in wild-type ATTR and V122I variant diagnoses 3

Factors Contributing to Increased Prevalence

Improved Diagnostic Capabilities

• Technetium scintigraphy has made non-invasive diagnosis of ATTR amyloidosis much easier 2
• Advanced diagnostic techniques including:
  • Mass spectrometry for accurate amyloid typing 4, 5
  • Improved immunohistochemistry and immunofluorescence methods 4
  • Greater use of abdominal fat biopsy for diagnosis 5

Increased Disease Awareness

• Greater recognition of clinical presentations suggesting amyloidosis 2
• Coordinated educational initiatives leading to earlier referrals 3
• Better understanding of high-risk populations requiring screening 6

Aging Population

• Age-related (wild-type) ATTR amyloidosis is increasingly diagnosed as the population ages 2, 3
• AL amyloidosis typically has late-age onset, affecting more individuals as life expectancy increases 1

Treatment Advances

• Emergence of effective treatments has increased interest in diagnosis 3
• Recent approval of targeted therapies like daratumumab for AL amyloidosis 1
• Development of ATTR treatments that slow disease progression 2

Clinical Implications

Diagnostic Considerations

• High-risk populations should be screened regularly, including:
  • Patients with unexplained heart failure with preserved ejection fraction
  • Unexplained proteinuria
  • Peripheral neuropathy of unknown origin
  • All MGUS patients 6

Treatment Approach

• Early diagnosis is crucial before irreversible organ damage occurs 1
• Treatment must be tailored to the specific amyloid type:
  • AL amyloidosis: Target the underlying plasma cell clone with bortezomib-based regimens or ASCT when eligible 6
  • ATTR amyloidosis: Specific treatments to slow disease progression 2

Conclusion

The increasing prevalence of amyloidosis represents both improved diagnostic capabilities and likely a true increase in disease occurrence, particularly for age-related forms. This trend underscores the importance of physician awareness of amyloidosis presentations and appropriate screening of high-risk populations to enable early diagnosis and treatment.