Enteral nutrition in a young patient suffering from epidermolysis bullosa syndrome (ILNEB syndrome) and eating disorders: A case report

Abstract

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.

Keywords

ILNEB syndrome enteral nutrition lung transplant underweight anorexia nervosa

Introduction

Interstitial lung disease nephritic epidermolysis bullosa syndrome (ILNEB syndrome) is an extremely rare autosomal recessive condition, caused by pathogenic variants in ITGA3. ILNEB syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria, leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.¹ The prevalence of the disease is <1 / 1.000.000 and the majority of patients dies in early childhood.^2,3,4 In literature there are no available data about diet and nutritional treatment in ILNEB syndrome.

Methods

We report here the clinical outcome of a 21-years-old female patient, suffering from ILNEB syndrome caused by pathogenic variants in ITGA3, eating disorders, severe underweight and needing enteral nutrition support through percutaneous endoscopic gastrostomy (PEG).

Her medical history was remarkable for interstitial lung disease, bronchiolitis obliterans, epidermolysis bullosa, nephrotiyc syndrome and onychodystrophy. The patient reported reduction in appetite, intolerance to almost all the 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

First nutritional assessment (November 2023): body weight 32 kg, height 150 cm, BMI 14.2 kg/m²

The anthropometric assessment included the following data: –

Bioelectric Impedance Analysis (BIA) was performed by a Segmental Total Body Composition Monitor (Accuniq BC 380). This device performs whole body analysis calculating fat mass and fat free mass. In December 2023 these parameters were not detectable as they were too low, since the patient had a very low BMI. In August 2024: fat mass 11.2 kg, proteins 5.1 kg.

–

Indirect Calorimetry (COSMED Fitmate GS) in December 2023 reported Resting Energy Expenditure of 1051 Kcal/day, 92% from the REE predicted by Harris Benedict Equation.

–

In December 2023 venous blood sampling was carried out in the morning, after an overnight fast, with the aim of measuring the following parameters: glucose 87 mg/dl; Hb 14.4 g/dl; transaminases in the normal range (ALT 37 U/l); total cholesterol 119 mg/dl; creatinine 0.69 mg/dl; triglycerides 46 mg/dl; iron 54 ug/dl; electrolytes in the normal range; folic acid 16 ng/ml; albumin 3.5 g/dl; B12 838 pg/ml; 25OHvitamin D 56 (supplemented with Cholecalciferol 100.000 UI/month); TSH in a normal range . In August 2024 venous blood sampling was carried out also and no variations in all the parameters were detected.

–

Handgrip Strenght in August 2024 was 21 kg (2.14 N)

Due to her clinical status, the patient was subjected to a PEG tube insertion for enteral nutrition in December 2023.

In December 2023 she started enteral nutrition protocol through PEG, consisting of a normocaloric normoproteic formula (1 kcal/ml 4 g of proteins/100 ml) reaching 1000 ml/day (1000 kcal/day - 1 g of protein for kg of target body weight) and free oral food intake. In January 2024 the nutritional team modified the formula, shifting to a hypercaloric normoproteic formula (1.5 kcal /ml - 6 g of proteins/100 ml) reaching 1000 ml/day (1500 kcal/day - 1.2 g of protein for kg of target body weight).

From January 2024 to august 2024 the patient's enteral nutrition had many variations due to several side effects and collateral symptoms:

January 2024: gastroesophageal reflux, treated by lowering the speed of infusion (maximum 60 ml/h - 1000 ml/day/16 h) and with medical therapy with PPI.

April 2024: gastroesophageal reflux, requiring a lowering of the speed of infusion to a maximum of 40 ml/h (half dosage, 500 ml/day/12 h). The remaining half dosage was administered through bolus enteral feedings.

May 2024: spontaneous monolateral pneumothorax requiring hospital recovery

July 2024: replacement of gastrostomy tube with miniONE Balloon Button 20 Fr × 2 cm (presence of granulation tissue in the site of the stoma)

From December 2023 to August 2024 oral food intake was very low, with episodes of anxiety related nausea and vomiting, treated with regular psychiatric and psychological counselling

August 2024 (today): the patient is still in enteral nutrition trough PEG with hypercaloric formula (1000 ml/day – 1500 kcal/day), well tolerated. Oral food intake continues to be very low. Psychological and psychiatric counselling are continuing. Blood tests remain almost the same. Body weight increased as showed in Table 1. 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 list by the pneumological team and she obtained lung transplantation in October 2024.

Table 1.

Body weight increased and BMI increase.

Month	Body weight (kg)	BMI (kg/m²)
November 2023	32	14.2
February 2024	33	14.7
March 2024	35.8	15.9
April 2024	37	16.4
May 2024	36	16
August 2024	38	16.9

Discussion

Adult patients suffering from ILNEB disease are extremely rare. This medical condition (including interstitial lung disease and proteinuria) is probably related to a high risk of malnutrition and/or underweight. Furthermore, anxiety related to severe chronic conditions since childhood could be a risk factor for eating disorders such as anorexia nervosa.⁵ 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. Collateral symptoms were due not only to ILNEB syndrome, but to anxiety and eating disorders also. Despite several side effects, the patient obtained the body weight increase.

Conclusion

This unique case is a wonderful example of the positive impact of enteral nutrition in rare genetical diseases and is the first report of enteral nutrition in an adult patient suffering from ILNEB syndrome.

Footnotes

Acknowledgments

We would like to thank our patient for providing formal consent to publish this data

Author contributions

EC, CV and AB were involved in the conceptualization of the case report. EC, CV, AB, CC and EP collected data. EC and CV wrote the manuscript. All the authors critically reviewed and approved the manuscript.

Funding

The authors received no financial support for the research, authorship, and/or publication of this article.

Declaration of conflicting interests

The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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