# Large Language Model Aided Birt-Hogg-Dube Syndrome Diagnosis with Multimodal Retrieval-Augmented Generation

arXiv: https://arxiv.org/abs/2511.19834 · HTML: https://mlsanity.com/paper/2511.19834/

## Key facts

- No citing papers in the map yet (data through 14 Oct 2026).
- Placed in Medical and biomedical RAG, one of 15 directions in Retrieval-augmented generation.
- Builds on 18 of its 30 references that are in the map.
- First posted on arXiv 25 Nov 2025.

## Placed in

- Retrieval-augmented generation / [Medical and biomedical RAG](https://mlsanity.com/rag/medical-and-biomedical-rag/)

## Builds on (most cited first, 18 of 18)

- [Deep Residual Learning for Image Recognition](https://mlsanity.com/paper/1512.03385/) (2015)
- [U-Net: Convolutional Networks for Biomedical Image Segmentation](https://mlsanity.com/paper/1505.04597/) (2015)
- [GPT-4 Technical Report](https://mlsanity.com/paper/2303.08774/) (2023)
- [Lost in the Middle: How Language Models Use Long Contexts](https://mlsanity.com/paper/2307.03172/) (2023)
- [Aggregated Residual Transformations for Deep Neural Networks](https://mlsanity.com/paper/1611.05431/) (2016)
- [Retrieval-Augmented Generation for Large Language Models: A Survey](https://mlsanity.com/paper/2312.10997/) (2023)
- [Survey of Hallucination in Natural Language Generation](https://mlsanity.com/paper/2202.03629/) (2022)
- [Attention U-Net: Learning Where to Look for the Pancreas](https://mlsanity.com/paper/1804.03999/) (2018)
- [LLaVA-Med: Training a Large Language-and-Vision Assistant for Biomedicine in One Day](https://mlsanity.com/paper/2306.00890/) (2023)
- [CosFace: Large Margin Cosine Loss for Deep Face Recognition](https://mlsanity.com/paper/1801.09414/) (2018)
- [Making Retrieval-Augmented Language Models Robust to Irrelevant Context](https://mlsanity.com/paper/2310.01558/) (2023)
- [Can Generalist Foundation Models Outcompete Special-Purpose Tuning? Case Study in Medicine](https://mlsanity.com/paper/2311.16452/) (2023)
- [Med3D: Transfer Learning for 3D Medical Image Analysis](https://mlsanity.com/paper/1904.00625/) (2019)
- [The Power of Noise: Redefining Retrieval for RAG Systems](https://mlsanity.com/paper/2401.14887/) (2024)
- [Medical Graph RAG: Towards Safe Medical Large Language Model via Graph Retrieval-Augmented Generation](https://mlsanity.com/paper/2408.04187/) (2024)
- [Improving Retrieval-Augmented Generation in Medicine with Iterative Follow-up Questions](https://mlsanity.com/paper/2408.00727/) (2024)
- [Let's Learn Step by Step: Enhancing In-Context Learning Ability with Curriculum Learning](https://mlsanity.com/paper/2402.10738/) (2024)
- [Deep Metric Learning for Few-Shot Image Classification: A Review of Recent Developments](https://mlsanity.com/paper/2105.08149/) (2021)

## Abstract (arXiv)

Deep learning methods face dual challenges of limited clinical samples and low inter-class differentiation among Diffuse Cystic Lung Diseases (DCLDs) in advancing Birt-Hogg-Dube syndrome (BHD) diagnosis via Computed Tomography (CT) imaging. While Multimodal Large Language Models (MLLMs) demonstrate diagnostic potential fo such rare diseases, the absence of domain-specific knowledge and referable radiological features intensify hallucination risks. To address this problem, we propose BHD-RAG, a multimodal retrieval-augmented generation framework that integrates DCLD-specific expertise and clinical precedents with MLLMs to improve BHD diagnostic accuracy. BHDRAG employs: (1) a specialized agent generating imaging manifestation descriptions of CT images to construct a multimodal corpus of DCLDs cases. (2) a cosine similarity-based retriever pinpointing relevant imagedescription pairs for query images, and (3) an MLLM synthesizing retrieved evidence with imaging data for diagnosis. BHD-RAG is validated on the dataset involving four types of DCLDs, achieving superior accuracy and generating evidence-based descriptions closely aligned with expert insights.