MON-691 - Metabolic Disorders in Thalidomide Embryopathy with Congenital Limb Hypoplasia

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 from 2022 to 2025. Thirty-five Japanese cases of TE (17 men and 18 women) were included in this study. The mean age was 61.5±1.6 years in men and 61.3±1.4 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 22.6±2.2 in men and 25.2±5.2 in women. Twelve percent of men and 33% of women had a BMI between 25-30, while 22% of women and no men had a BMI of 30 or greater. Liver dysfunction was seen in 53% of men and 28% of women. The mean high-density lipoprotein cholesterol level was 58±12 mg/dL in men and 62±15mg/dL in women. The mean low-density lipoprotein (LDL) cholesterol level was 120±38mg/dL in men and 132±39 mg/dL in women, with 35% of men and 50% of women had LDL level of 140 mg/dL or greater. The mean triglyceride (TG) level was 120±66 mg/dL in men and 112±64 mg/dL in women, with 29% of men and 11% of women had a level of 150 mg/dL or greater. The mean HbA1c level was 6.1±0.7% in men and 5.9±0.3% in women. The prevalence of impaired glucose tolerance (IGT) was 18% in men and 0% in women. Fatty liver (FL) evaluated by ultrasonography or CT scan was 59% in men and 56% in women. The patients with FL showed significantly high HbA1c levels and the prevalence of IGT in men, high BMI, waist circumference, alanine aminotransferase, TG level and HbA1c in women, respectively, compared to the patients without FL. Although without obvious overweight, more than 50 % of the patients had dyslipidemia and 50% 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).

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