The aim of study was to clarify the prevalence of body mass deficiency in young patients with connective tissue dysplasia (CTD) and to characterize the phenotype of the patients.
Material and methods. The study included 494 persons with signs of CTD: 290 (58,70%) males of average age 28,82±9,60 years. Some of the patients (n=51) were interviewed and questioned using a visual analogue scale for assessing their nutritional status.
Results. In the general group, the body mass index (BMI) was 19,50±3,32 kg/m2. In 45,14% of patients, the indicator corresponded to a body weight deficit, without sex differences (p=0,174). 2 groups were formed: group 1 (BMI <18,5 kg/m2; underweight, n=223), group 2 (BMI ≥18,5 kg/m2; n=271). DST manifestations from the gastrointestinal tract (GIT) were observed in 28.34% of cases, with the same frequency in groups 1 and 2. In group 1, functional gastrointestinal tract disorders and biliary sludge were significantly more frequently occured. The majority of surveyed (36/51) ate irregularly, in every fifth case breakfast was routinely absent, frequent small meals, fast food, insufficient intake of fiber and dairy products took place; every second person noted lack of appetite in the morning. In group 1, negative nutritional characteristics were more often recorded: in a third of the cases, there was no breakfast, the majority (64,29%) had no appetite before the morning meal, the feeling of hunger in the morning, as well as during the day, was reduced, and the estimation of addiction to sweets and fatty foods was lower.
Conclusion. In the group of young patients with CTD, body weight deficiency is recorded in 45% of cases, with the same frequency among males and females. CTD of the digestive tract occurs in 28,34% of cases. The group of patients with CTD and underweight is notable for higher frequency of functional disorders and biliary sludge, and also for higher frequency of negative nutritional characteristics.

Keywords: connective tissue dysplasia, body weight deficiency