Case Summary

A 69-year-old man presented with a 2-year history of progressive dysphagia, accompanied by hoarseness, aspiration, impaired tongue mobility, and weight loss .Despite multiple healthcare encounters, the diagnosis remained elusive.

Examination revealed diffuse mucosal swelling of the pharynx and larynx, along with nodular tongue and skin lesions (Figure 1, page 2), raising suspicion for an infiltrative process . Definitive diagnosis was established through biopsy, demonstrating subepithelial amyloid deposition, and confirmed as systemic light-chain (AL) amyloidosis (kappa type) .

The patient was treated with bortezomib and dexamethasone, achieving partial reduction in mucosal swelling, though clinical symptoms persisted .

Why This Case Matters

AL amyloidosis is a multisystem protein misfolding disorder with protean manifestations. While cardiac and renal involvement dominate, otorhinolaryngologic presentations are uncommon and frequently misdiagnosed .

This case highlights several key clinical realities:

Diagnostic delay is common—median time to diagnosis ~2.7 years
Patients often see multiple physicians before recognition
Localized symptoms (e.g., dysphagia, macroglossia) may precede systemic diagnosis
No single test confirms amyloidosis—tissue biopsy remains essential

For neurologists and general clinicians alike, progressive bulbar symptoms without clear etiology should prompt consideration of infiltrative or systemic disease processes, including amyloidosis.

Clinical Take-Home Message

Persistent, unexplained dysphagia—especially with tongue enlargement or mucosal changes—should raise suspicion for systemic amyloidosis and prompt early biopsy.

Early recognition is critical, as delayed diagnosis risks irreversible organ damage despite emerging therapies.

Question

Which clinical feature is relatively specific for AL amyloidosis and may aid early recognition?

A. Dysphagia
B. Hoarseness
C. Macroglossia
D. Weight loss

Correct Answer:

C. Macroglossia

Explanation:

While many symptoms of AL amyloidosis are nonspecific, macroglossia and periorbital purpura are among the more characteristic findings, reflecting amyloid deposition in soft tissues . Recognition of these signs can significantly shorten diagnostic delay.

Final Perspective

This case exemplifies the enduring value of careful clinical observation and histopathologic confirmation—principles that remain foundational despite advances in imaging and biomarkers. 

Journal of Medical Case Reports is the world’s first international, PubMed-listed, medical journal devoted to publishing case reports from all medical disciplines and will consider any original case report that expands the field of general medical knowledge, and original research relating to case reports.