Alström syndrome in China: epidemiologic trends, geographic distribution, and clinical-socioeconomic profiles under innovative care models

Alström syndrome (ALMS) is a progressive multisystem disorder characterized by early-onset obesity, severe insulin resistance, type 2 diabetes, dyslipidemia, cardiomyopathy, and metabolic-associated steatotic liver disease. To date, no effective management or care model has been established for these patients in China. This study aims to develop a China-adapted care model that incorporates consultant physicians and patient advocacy organizations to improve patient management, provide sustained support, and promote medical research. ALMS is a progressive multisystem disorder characterized by early-onset obesity, severe insulin resistance, type 2 diabetes, dyslipidemia, cardiomyopathy, and metabolic-associated steatotic liver disease. To date, no effective management or care model has been established for these patients in China. This study aims to develop a China-adapted care model that incorporates consultant physicians and patient advocacy organizations to improve patient management, provide sustained support, and facilitate medical research. The number of registered ALMS patients in the Alström Syndrome Greater China Association increased significantly from 50 in 2020 to 161 in 2024, with cases reported in 29 of China’s 34 provincial-level administrative regions. Fujian, Guangdong, Shandong, and Henan provinces exhibited the most notable increases over this five-year period. Despite this expansion, early diagnosis remains limited: only 31.9% of patients were diagnosed within one year of symptom onset, while 28.7% experienced diagnostic delays of more than five years. Ophthalmologic referral was the most common diagnostic pathway (53.1%). Socioeconomic analysis revealed that 41.3% of patients resided in rural areas, 22.8% had attended special education schools, and only 16.3% had received social welfare support. Regarding family employment status, both parents were employed in 56.3% of cases, only one parent in 38.7%, and neither in 5%. Access to multidisciplinary care was uneven, with 51.3% of patients having visited a multidisciplinary team clinic, while 48.7% had not. The patient advocacy–consultant physician model appears to be effective in improving ALMS management in China. However, a substantial number of potential patients remain undiagnosed or unrecognized nationwide, and a significant gap persists between symptom onset and confirmed diagnosis. Furthermore, nearly half of the diagnosed patients lack systematic evaluation and regular follow-up by specialized clinicians. This concern is especially critical in pediatric populations, who constitute the majority of ALMS patients and are particularly vulnerable to progressive, multisystem complications without continuous monitoring. Establishing a standardized national clinical network with a focus on pediatric follow-up and longitudinal care is essential to close these gaps and improve long-term outcomes.