# Interdisciplinary Approach to Diagnostic Challenges: A Case Study of Cardiac Amyloid Light-Chain (AL) Amyloidosis, Multiple Myeloma, and Ductal Carcinoma In Situ

**Authors:** Yuko Tashima, Koshi Setoyama, Takehiro Higashi, Aya Nawata, Fumihiro Tanaka

PMC · DOI: 10.7759/cureus.83299 · Cureus · 2025-05-01

## TL;DR

This case study highlights the complex diagnosis of cardiac amyloidosis linked to multiple myeloma and breast cancer, emphasizing the need for interdisciplinary collaboration.

## Contribution

The paper presents a rare case where three conditions coexisted and were diagnosed through multi-departmental collaboration.

## Key findings

- The patient's heart failure worsened after DCIS surgery, prompting further cardiac evaluation.
- Bone marrow biopsy confirmed multiple myeloma with over 60% clonal plasma cells.
- Combination therapy led to a partial response and over 2 years of survival.

## Abstract

Amyloid light-chain (AL) amyloidosis is a disorder caused by abnormal plasma cells, and it may develop either as a primary disease or as a secondary condition associated with multiple myeloma. Due to the absence of specific clinical symptoms, its diagnosis is often challenging. Here, we present a case of cardiac amyloidosis secondary to multiple myeloma, incidentally complicated by ductal carcinoma in situ (DCIS). Although the breast cancer was diagnosed as stage 0 (DCIS), the patient's heart failure symptoms worsened following surgical resection. As a result, further evaluation by the cardiology department was performed, leading to a diagnosis of cardiac amyloidosis. Subsequently, a hematology consultation was obtained, and bone marrow biopsy revealed that clonal plasma cells accounted for more than 60% of bone marrow cellularity, confirming a diagnosis of multiple myeloma. The patient received daratumumab + bortezomib + cyclophosphamide + dexamethasone therapy, achieved a partial response, and has been alive for >2 years. This case is a valuable example of a patient who experienced a gradual onset of the symptoms of amyloidosis, including palpitations, pleural effusion, right and left heart failure, before a diagnosis could be made. It took a total of eight departments to make a diagnosis, as it was challenging. Even if no abnormalities are observed in a single examination, it is important to listen carefully to patient complaints, repeat the examination if necessary, and work with multiple departments to provide treatment.

## Linked entities

- **Chemicals:** bortezomib (PubChem CID 387447), cyclophosphamide (PubChem CID 2907), dexamethasone (PubChem CID 5743)
- **Diseases:** multiple myeloma (MONDO:0009693), ductal carcinoma in situ (DCIS) (MONDO:0005023), heart failure (MONDO:0005252)

## Full-text entities

- **Diseases:** amyloidosis (MESH:D000686), DCIS (MESH:D002285), Multiple Myeloma (MESH:D009101), heart failure (MESH:D006333), pleural effusion (MESH:D010996), palpitations (MESH:D006331), Amyloid Light-Chain (AL) Amyloidosis (MESH:D000075363), breast cancer (MESH:D001943)
- **Chemicals:** bortezomib (MESH:D000069286), cyclophosphamide (MESH:D003520), dexamethasone (MESH:D003907), daratumumab (MESH:C556306)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12127001/full.md

## References

16 references — full list in the complete paper: https://tomesphere.com/paper/PMC12127001/full.md

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Source: https://tomesphere.com/paper/PMC12127001