SAT-660 Metabolic disorders in congenital limb deficiencies

Abstract Disclosure: A. Tanabe: None. M. Hashimoto: None. Thalidomide embryopathy (TE) is a congenital limb deficiency that occurs in neonates born to pregnant women who have taken thalidomide. Typical abnormalities of the TE are upper limb hypoplasia and/or auditory dysfunction. In Japan, thalidomide was marketed as an agent for sleep-induce and digestive ulcers from 1958 to 1962. Up to now, approximately 290 cases have been certified and are supported by the government as drug-induced disease. Currently, many of the victims are in their late 50s, and in addition to congenital disabilities, various health issues such as lifestyle-related diseases can be developed. We investigated their metabolic condition using data from medical health check-up between 2022 and 2023. Twenty-five Japanese cases of TE (12 men and 13 women) were included in this study. The mean age was 60.7±1.0 years in men and 60.6±0.9 years in women. All cases had bilateral or unilateral hypoplasia of upper limbs, however no abnormalities of the lower limbs. The mean body mass index (BMI) was 22.5±2.2 in men and 24.9±4.4 in women. Seventeen percent of men and 62% of women had a BMI between 25-30, while 8% of women and no men had a BMI of 30 or greater. Liver dysfunction was seen in 50% of men and 31% of women. The mean high-density lipoprotein cholesterol level was 54±11 mg/dL in men and 59±13 mg/dL in women. The mean low-density lipoprotein (LDL) cholesterol level was 125±41 mg/dL in men and 136±36 mg/dL in women, with 33% of men and 54% of women had LDL level of 140 mg/dL or greater. The mean triglyceride (TG) level was 144±85 mg/dL in men and 115±68 mg/dL in women, with 42% of men and 31% of women had a level of 150 mg/dL or greater. The mean HbA1c level was 6.2±0.8% in men and 5.9±0.3% in women. The prevalence of impaired glucose tolerance (IGT) was 25% in men and 0% in women. Fatty liver (FL) evaluated by ultrasonography or CT scan was 67% in men and 62% in women. The patients with FL showed significantly high HbA1c levels and the prevalence of IGT in men, high BMI, waist circumference, alanine aminotransferase and TG levels in women, respectively, compared to the patients without FL. Although without obvious overweight, more than 60 % of the patients had dyslipidemia and 60% of the patients had FL. Mobility limitations due to limbs abnormality may contribute to the development of metabolic disorders in TE. The results of this study provide valuable information for future health management in thalidomide embryopathy. (This study was conducted by a research grant from the National Center for Global Health and Medicine, Japan: 24A1004 and a Grant-in-Aid from the Ministry of Health, Labour, and Welfare, Japan: 20KC2005, 23KC2017). Presentation: Saturday, July 12, 2025