Simultaneous onset of systemic sclerosis and light chain amyloidosis: the first report of a case report and review of the literature

Systemic sclerosis (SSc) and amyloidosis are rare, complex conditions that impair the function of multiple organs, each with distinct pathogenic mechanisms: autoimmunity for SSc and misfolded protein deposition for amyloidosis. We present the first documented case of a 57-year-old woman with coexisting SSc and systemic AL amyloidosis with multi-organ involvement, in which treatment for amyloidosis led to a notable improvement in SSc symptoms. The patient presented experiencing fatigue, exertional dyspnea, epigastric pain and syncopal episodes in the summer of 2023. Investigations revealed mild increase in left ventricle thickness, elevated NT-proBNP and troponin with negative coronary angiography. She was subsequently diagnosed with SSc with multi-organ involvement and systemic AL amyloidosis confirmed by biopsy. Treatment with a modified Dara-CyBorD protocol led to improvement in SSc symptoms, especially in terms of dyspnea and skin involvement. This is the first reported case of SSc coexisting with systemic AL amyloidosis. The patient responded well to therapy for amyloidosis, suggesting potential overlapping treatment benefits. A multidisciplinary approach was essential, and further studies are needed to explore therapeutic interactions between these two rare diseases.