Thyroid Gland Diffuse Lipomatosis: A Case Study and Comprehensive Literature Review

Diffuse lipomatosis of the thyroid (DLT) is a rare condition characterized by the infiltration of thyroid parenchyma with mature adipose cells, replacing normal follicular structure. Though uncommon, it often presents as neck swelling or compression symptoms such as dyspnea, dysphagia, and hoarseness, complicating diagnosis. This case study details a 61-year-old female patient with DLT, who presented with a multinodular goiter and progressive neck swelling, and reviews 53 additional cases from the literature. The review reveals that DLT is often misdiagnosed due to its overlapping features with other thyroid pathologies. The exact pathophysiological mechanism remains unclear, but hypotheses include tissue hypoxia, embryological malformations, or lipid metabolism disturbances. Surgical excision is the most common treatment, particularly for symptomatic patients, yielding positive long-term results. Future research should focus on clarifying DLT’s exact etiology and improving diagnostic accuracy, especially in differentiating it from other fat-infiltrated thyroid lesions such as amyloid goiter and adenolipomas. Enhanced understanding will guide better management strategies and improve patient outcomes in this rare yet significant thyroid disorder.