How I treat amyloidosis

Area of Science:

• * Hematology and Nephrology
• * Cardiology and Genetics

Background:

• * Amyloidosis is a rare systemic disease characterized by protein misfolding, aggregation into fibrils, and subsequent tissue infiltration.
• * The primary types include light-chain (AL) amyloidosis, linked to B-cell disorders, and transthyretin amyloidosis (ATTR), encompassing hereditary and wild-type forms.

Observation:

• * Diagnosis typically necessitates tissue biopsy for confirmation and typing.
• * AL amyloidosis is more prevalent and causes greater organ damage than ATTR amyloidosis.
• * Both types can lead to cardiomyopathy and heart failure, but AL amyloidosis exhibits more rapid progression, underscoring the need for prompt diagnosis.

Findings:

• * Amyloidosis typing relies on clinical presentation, laboratory results, monoclonal gammopathy evaluation, and TTR gene testing.
• * Definitive proteomics is expected to enhance diagnostic accuracy in the future.
• * Direct tissue typing is essential when patients present with two potential amyloid-forming proteins.

Implications:

• * Emerging therapies for ATTR amyloidosis are under investigation, while AL amyloidosis treatments have evolved alongside multiple myeloma therapies, improving patient survival.
• * Key challenges include accurate typing, patient counseling, and timely management of multisystemic disease.
• * Continued global research and advocacy efforts are vital for advancing patient care and outcomes in amyloidosis.