Background: Interstitial lung disease nephritic epidermolysis bullosa syndrome (ILNEB syndrome) is an extremely rare autosomal recessive condition, caused by pathogenic variants in Integrin Subunit Alpha 3 (ITGA3). In literature there are no available data about diet in ILNEB syndrome.
Objective: Our aim is to describe a case report of a young adult patient suffering from ILNEB syndrome and eating disorders, treated by enteral nutrition to be candidate for lung transplant.
Methods: Our patient is 21-years-old, female. Her medical history was remarkable for interstitial lung disease, bronchiolitis obliterans, epidermolysis bullosa, nephrotiyc syndrome and onychodystrophy due to ILNEB syndrome. The patient reported reduction in appetite, intolerance to oral nutritional supplements and previous psychological and medical treatment for eating disorders (anorexia purging disorder). She was candidate for lung transplant, but her underweight was a contraindication for the procedure.
Results: At first nutritional assessment the body weight was 32 kg and body mass index (BMI) was 14.2 kg/m2. Due to her clinical status, the patient was subjected to a percutaneous endoscopic gastrostomy (PEG) tube insertion for enteral nutrition in December 2023 and she was treated with hypercaloric normoproteic formula (1.5 kcal /ml - 6 g of proteins/100 ml) reaching 1000 ml/day (1500 kcal - 1.2 g of protein for kg of target body weight). After 8 months, there was a body weight increase of 16% from the beginning of enteral nutrition and there was a BMI increase of 2.7 points. The patient has been included in waiting a list by the pneumological team and she obtained lung transplantation in October 2024.
Conclusions: Our report highlights the critical problem of clinical nutrition in patients suffering from rare diseases, without any specific clinical guidelines. In our patient, enteral nutrition through PEG allowed an increased of body weight, reaching the possibility to be candidate for lung transplant.
AlstrupMMarksSDEkJ, et al.First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood. Eur J Med Genet2021; 64: 104335.
3.
KinyóÁKovácsALDegrellP, et al.Homozygous ITGA3 missense mutation in adults in a family with syndromic epidermolysis Bullosa (ILNEB) without pulmonary involvement. J Invest Dermatol2021; 141: 2752–2756.
4.
ColomboEASpacciniLVolpiL, et al.Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations. Orphanet J Rare Dis2016; 11: 136.
5.
MarucciSDalla RagioneLDe IacoG, et al.Anorexia nervosa and comorbid psychopathology. Endocr Metab Immune Disord Drug Targets2018; 18: 316–324.
