engleski

Nutritional profile of patients with Epidermolysis Bullosa

The clinical features of rare genetic disease Epidermolysis Bullosa (EB) include oral, pharyngeal, gastrointestinal and total body blistering. Complication in the mouth, oesophagus and anus, combined with chronic skin infections and blood loss can severely compromise nutritional intake, leading to prolonged malnutrition and extreme growth failure. According to the information from DEBRA Croatia, 34 individuals are known to have been suffering from Epidermolysis Bullosa. The prevalence of all types of EB in Croatia is calculated at 7, 7/per million (population in Croatia 2002, 4.437, 460). The study gives the results from the nutritional assessment of 16 patients with Epidermolysis Bullosa (4 with simplex EB and 12 with dystrophic EB ) aged from 2 to 34 years: 7 male and 9 female. The aims of the study are determine quality of food intake and nutritional status of patients with Epidermolysis Bullosa. The nutritional status of the subject was assessed by: a) calculation of the BMI (body mass index), b) the position of the weight in percentile distribution, c) the position of the height in percentile distribution, d) the position of the BMI in percentile distribution. According to the position of the weight and height in percentile distribution, 12 patients had weights on or below the fifth centile, and 5 patients had height on or below the fifth centile. In 10 patients the weight centile was lower than height centile, and 10 patients had BMI below the fifth centile. Patients with dystrophic EB have many problems that affect their appetite and their ability to eat. Because of their eating difficults, the majority of patients had inadequate food and energy intake. For many of these patients eating is painful. Because of that, patients tend to show certain trends in terms of like and dislikes in relation to food. These trends are reflected in the results of the dietary assessments. This study presents the population suffering from the effects of chronic malnutrition. The results provide a strong argument for the value of nutritional assessment and intervention. The prevention of malnutrition will depend on more active and continuous nutritional support, starting at very early age. This may require the use of many more procedures, such as nasogastric or gastrostomy feeding.

Epidermolysis Bullosa ; malnutrition ; nutritional status ; nutritional assessment

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