Intestinal Failure
ERNICA covers the following diseases within the intestinal failure working group.
Short bowel syndrome
is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length.
Congenital enteropathies
Are a group of rare inherited diseases with a typical onset early in life. They involve defects in enterocyte structure or differentiation.
Epithelial dysplasia
Is a premalignant condition characterized clinically by an alteration in the oral epithelium that may cause the oral mucosa to turn red, white, or some other color variation.
Congenital chronic diarrhea with protein-losing enteropathy
is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy
Intestinal disease due to fat malbsorption
Intractable diarrhea of infancy
Based on recent advances in the genetics of autoimmune enteropathy as well as the pathophysiology and clinical presentation, autoimmune enteropathy can be classified into three different types: the classical form of autoimmune enteropathy, identical to the so-called immune dysregulation-polyendocrinopathy-enteropathy-X-linked (IPEX) syndrome (autoimmune enteropathy type 1); autoimmune enteropathy type 2 (without extra-intestinal manifestations) and autoimmune enteropathy type 3 (in girls). Microvillus inclusion disease (MVID) and Intestinal epithelial dysplasia (IED), also known as tufting enteropathy, are congenital enteropathies presenting with villous atrophy and are thought to be related to abnormal enterocytes. Another form of IDI that should be considered in a different way from the two other groups is so-called 'phenotypic diarrhoea'' or 'syndromatic diarrhea''. This form of IDI presents with severe early onset diarrhea resisting bowel rest, non-specific villous atrophy and very characteristic extra-digestive (facial and hair dysmorphy) manifestations.
Clinically, IDI may be easy to diagnose on the basis of the symptoms onset, clinical presentation and associated disorders. Histopathological analysis confirms the diagnosis.
Chronic intestinal pseudo-obstruction
Patients commonly present with severe chronic "obstructive" symptoms: abdominal pain, distension/fullness, nausea/vomiting, diarrhea and/or intractable constipation, malabsorption of nutrients leading to weight loss and/or failure to thrive. Laboratory abnormalities usually reflect the degree of malabsorption and malnutrition. The radiological findings commonly include paralytic ileus or signs of apparent clinical obstruction with dilated loops of bowel. The regions of the gut affected may be isolated (small bowel involvement is the most typical) or diffuse, and sometimes other visceral musculature, such as the urinary bladder, is involved.
The clinical diagnosis should be confirmed by a combination of gastrointestinal manometric studies, transit time measurements, radiological findings (dilated bowel with air-fluid levels), and histological examination of a full-thickness biopsy of the affected intestine. If CIPO is suspected, mechanical obstruction must be carefully excluded by radiologic and endoscopic examinations.
Microvillus inclusion disease
Two clinical forms of MVID have been described: an early-onset form, developing within hours or days of birth, and a late-onset form, occurring in the first months of life. In both, intractable, watery diarrhea is profuse and leads to severe metabolic acidosis, dehydration, malabsorption and failure to thrive. Total parenteral nutrition is necessary, however, in some later-onset cases, partial oral absorption has been described. The intestinal insufficiency is progressively life-threatening in the absence of rapid, appropriate hydroelectrolytic and nutritional compensation. Developmental delays may be present and rare associated anomalies (e.g. inguinal hernia, renal dysplasia) have been reported. Long-term parenteral nutrition may be complicated with specific liver cholestasis. Atypical forms of MVID, without detectable microvillus inclusions and less severe course, have been described.
The diagnosis is suspected based on clinical manifestations and is confirmed by histological analysis of small bowel biopsies showing villous atrophy and abnormal periodic acid-Schiff stain (PAS)-positive inclusion material in intestinal epithelium, without crypt hyperplasia. Electronic microscopy reveals microvillous atrophy and in most cases, microvillous inclusion vesicles in the cytoplasm of enterocytes. Molecular genetic testing has become essential to confirm the diagnosis.
Intestinal failure
Some people are born with or develop irreversible intestinal failure. Intestinal failure occurs when the intestines cannot digest food and absorb the fluids, electrolytes and nutrients that are essential to life and normal development. Total parenteral nutrition (TPN) is then indicated, which provides liquid nutrition through a catheter or needle inserted into a vein in the arm, groin, neck or chest. The most common cause of intestinal failure is short-bowel syndrome where at least half or more of the small intestine has been removed. Short-bowel syndrome is typically a postsurgical condition for treatment of conditions such as trauma, necrotizing enterocolitis or midgut volvulus. Other causes are congenital malformations such as small-bowel atresia, gastroschisis, and aganglionosis. Intestinal failure may also be caused by functional disorders such as crohn's disease, chronic idiopathic intestinal pseudo-obstruction syndrome or absorptive impairment (e.g. intestinal pseudo-obstruction, microvillus inclusion disease). The conditions leading to intestinal failure are age-dependent.
Traveling abroad with intestinal failure
Reliance on parenteral nutrition can pose challenges for traveling abroad. Therefore, ERNICA developed a map tool which may help patients and families to easily identify specialist centers across Europe that are able to administer parenteral nutrition and that meet a particular criterion.
Access the map tool below!