ERNICA covers the following diseases within the gastroenterological disease working group.
Familial adenomatous polysis
Congenital pancreatic diseases
Rare diseases involving intestinal motility
Familial adenomatous polyposis
Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss.
Diagnosis is based on family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing.
Rare inflammatory bowel disease
Including pediatric crohn's disease and ulcerative colitis
Inflammatory bowel diseases (IBD) mainly occur in patients between the ages of 18 and 25. Approximately one fifth to one quarter of the patients are younger than 20. In children under the age of 18 it is rare. So this is the reason why IBD presenting under the age of 18 years is classified as a rare disease. Children may have the same symptoms as adults. Problems with growth retardation or late puberty are typical in childhood.
In ulcerative colitis, the mucous membrane of the colon is inflamed, which is visible as long, bloody ulcers over a longer part of the colon. Ulcerative colitis is a subacute disease whose main symptoms are bloody or slimy diarrhoea, fatigue, anaemia and sometimes loss of weight. The onset of symptoms can be insidious with diarrhoea and sometimes weight loss. Sometimes the symptoms are more obvious with severe abdominal pain, bloody stools and fever.
Crohn's disease is very rare in children under 5 years of age. It can occur throughout the intestinal tract from the mouth to the anus. Crohn's disease can be accompanied by abdominal pain, diarrhoea, growth retardation, not coming into puberty, weight loss, blood at the stool, paleness, fatigue, ulcers in the mouth, skin tags around the anus, ulcers around the anus or abscesses. In some families, more family members can suffer from Crohn's disease. In coloscopy, the typical abnormalities for Crohn's disease are small veins, inflamed areas alternated with normal large intestine (skip lesions), and less severely affected rectum (rectal sparing). Biopsies show granulomas. Furthermore, the small intestine may have been affected, which happens less often in ulcerative colitis. Furthermore, the presence of anal abnormalities such as fistulae, abscesses, skin tags or fissures is more characteristic of Crohn's disease.