RARE ORPHAN DISEASES IN PATIENTS ON HOME ARTIFICIAL NUTRITION.

Abstract

Rare genetic and non-genetic diseases are often associated with high risk of malnutrition[1]. The purpose of the study is to evaluated rare diseases among patients on Home Artificial Nutrition (HAN) and prescriptions registered at Local Health Care Unit Naples 3, Italy. Data were collected from 231 patients (M=131; F=100) recorded in 2019 (1st January-31st December). Oral Nutritional Supplements (ONS), Enteral Nutrition (HEN), Parenteral Nutrition (HPN) were included; complications of pregnancy and childbirth were excluded. Adults were 182 (78.8%), Pediatrics 49 (21.2% ). Rare diseases of the nervous system were 177 (76.7%), congenital anomalies 25 (10.8%) and inborn errors of metabolism 8 (3%). Respiratory, hematologic, immunologic, and skin diseases, primitive glomerulopathies and intestinal disorders, rare tumors were found in fewer cases (9.1%). Amyotrophic Lateral Sclerosis was the most frequent diagnosis (43.3%; 94 ALS and 6 ALS-Juvenile). Spinal Muscolar Atrophy (SMA) was found in 23.8% of pediatrics, Progressive Supranuclear Palsy (PSP) and Duchenne Muscular Dystrophy (DMD) in 8.4% and 4.5% of adult patients. ONS were 123, mainly prescribed to adults (87%); HEN were 100, administered through Percutaneous Endoscopy Gastrostomy (86%) and nasogastric tube feeding (14%), HPN were only 9 prescriptions. Nutritional impairment in patient with rare neurologic diseases is frequent. HAN could improve clinical management of symptoms worsening quality of life of patients. Further research is needed to evaluate the impact of nutritional intervention on individual clinical outcome[1].