Very early onset inflammatory bowel disease

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Very early onset inflammatory bowel disease
Specialty Gastroenterology

Very early onset inflammatory bowel disease (VEOIBD) is a type of IBD which starts in people younger than 6 years of age. According to age we can distinguish more specifically two categories within the VEOIBD diagnosis - neonatal IBD (patients younger than 1 month) and infantile IBD (patients younger than 2 years old). [1]

Contents

Signs and symptoms

VEIOBD patients present with severe form of the disease that responds poorly to conventional therapies. The symptoms often include not only gastrointestinal tract, but also other tissues, such as pituitary gland, spleen, liver, skin, respiratory tract or blood. [1]

On the other hand, other types of primary immunodeficiency can often manifest with IBD-like symptoms, too. These include the IPEX syndrome, Wiskott-Aldrich syndrome, XIAP syndrome or chronic granulomatous disease. [2]

Causes

Inflammatory bowel diseases (IBDs), such as Crohn's disease (CD) or Ulcerative Colitis (UC), are chronic inflammatory conditions of the gastrointestinal tract. Up-to-date findings show that the pathogenesis is influenced by both environmental and genetic factors. A considerable number of monogenic disorders can be found especially among patients with VEOIBD. Causal mutations can be found in genes involved in epithelial barrier formation (COL7A1, FERMT1), innate (CYBB, G6PC3), as well as the specific immune response and immune regulation (IL10, IL10RA, FOXP3). [3]

Related Research Articles

<span class="mw-page-title-main">Crohn's disease</span> Type of inflammatory bowel disease

Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any segment of the gastrointestinal tract. Symptoms often include abdominal pain, diarrhea, fever, abdominal distension, and weight loss. Complications outside of the gastrointestinal tract may include anemia, skin rashes, arthritis, inflammation of the eye, and fatigue. The skin rashes may be due to infections as well as pyoderma gangrenosum or erythema nodosum. Bowel obstruction may occur as a complication of chronic inflammation, and those with the disease are at greater risk of colon cancer and small bowel cancer.

<span class="mw-page-title-main">Ulcerative colitis</span> Inflammatory bowel disease that causes ulcers in the colon

Ulcerative colitis (UC) is one of the two types of inflammatory bowel disease (IBD), with the other type being Crohn's disease. It is a long-term condition that results in inflammation and ulcers of the colon and rectum. The primary symptoms of active disease are abdominal pain and diarrhea mixed with blood (hematochezia). Weight loss, fever, and anemia may also occur. Often, symptoms come on slowly and can range from mild to severe. Symptoms typically occur intermittently with periods of no symptoms between flares. Complications may include abnormal dilation of the colon (megacolon), inflammation of the eye, joints, or liver, and colon cancer.

<span class="mw-page-title-main">Defecation</span> Expulsion of feces from the digestive tract

Defecation follows digestion, and is a necessary process by which organisms eliminate a solid, semisolid, or liquid waste material known as feces from the digestive tract via the anus or cloaca. The act has a variety of names ranging from the common, like pooping or crapping, to the technical, e.g. bowel movement, to the obscene (shitting), to the euphemistic, to the juvenile. The topic, usually avoided in polite company, can become the basis for some potty humor.

<span class="mw-page-title-main">Constipation</span> Bowel dysfunction

Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The stool is often hard and dry. Other symptoms may include abdominal pain, bloating, and feeling as if one has not completely passed the bowel movement. Complications from constipation may include hemorrhoids, anal fissure or fecal impaction. The normal frequency of bowel movements in adults is between three per day and three per week. Babies often have three to four bowel movements per day while young children typically have two to three per day.

<span class="mw-page-title-main">Irritable bowel syndrome</span> Functional gastrointestinal disorder

Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by a group of symptoms that commonly include abdominal pain, abdominal bloating and changes in the consistency of bowel movements. These symptoms may occur over a long time, sometimes for years. IBS can negatively affect quality of life and may result in missed school or work or reduced productivity at work. Disorders such as anxiety, major depression, and chronic fatigue syndrome are common among people with IBS.

Chronic functional abdominal pain (CFAP), centrally mediated abdominal pain syndrome (CMAP) or functional abdominal pain syndrome (FAPS) is a pain syndrome of the abdomen, that has been present for at least six months, is not well connected to gastrointestinal function, and is accompanied by some loss of everyday activities. The discomfort is persistent, near-constant, or regularly reoccurring. The absence of symptom association with food intake or defecation distinguishes chronic functional abdominal pain from other functional gastrointestinal illnesses, such as irritable bowel syndrome (IBS) and functional dyspepsia.

<span class="mw-page-title-main">Inflammatory bowel disease</span> Medical condition

Inflammatory bowel disease (IBD) is a group of inflammatory conditions of the colon and small intestine, with Crohn's disease and ulcerative colitis (UC) being the principal types. Crohn's disease affects the small intestine and large intestine, as well as the mouth, esophagus, stomach and the anus, whereas UC primarily affects the colon and the rectum.

Functional gastrointestinal disorders (FGID), also known as disorders of gut–brain interaction, include a number of separate idiopathic disorders which affect different parts of the gastrointestinal tract and involve visceral hypersensitivity and motility disturbances.

<span class="mw-page-title-main">Gastrointestinal disease</span> Medical condition

Gastrointestinal diseases refer to diseases involving the gastrointestinal tract, namely the esophagus, stomach, small intestine, large intestine and rectum, and the accessory organs of digestion, the liver, gallbladder, and pancreas.

Food intolerance is a detrimental reaction, often delayed, to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems, but generally refers to reactions other than food allergy. Food hypersensitivity is used to refer broadly to both food intolerances and food allergies.

<span class="mw-page-title-main">Blood in stool</span> Medical condition

Blood in stool or rectal bleeding looks different depending on how early it enters the digestive tract—and thus how much digestive action it has been exposed to—and how much there is. The term can refer either to melena, with a black appearance, typically originating from upper gastrointestinal bleeding; or to hematochezia, with a red color, typically originating from lower gastrointestinal bleeding. Evaluation of the blood found in stool depends on its characteristics, in terms of color, quantity and other features, which can point to its source, however, more serious conditions can present with a mixed picture, or with the form of bleeding that is found in another section of the tract. The term "blood in stool" is usually only used to describe visible blood, and not fecal occult blood, which is found only after physical examination and chemical laboratory testing.

<span class="mw-page-title-main">Abdominal distension</span> Physical symptom

Abdominal distension occurs when substances, such as air (gas) or fluid, accumulate in the abdomen causing its expansion. It is typically a symptom of an underlying disease or dysfunction in the body, rather than an illness in its own right. People with this condition often describe it as "feeling bloated". Affected people often experience a sensation of fullness, abdominal pressure, and sometimes nausea, pain, or cramping. In the most extreme cases, upward pressure on the diaphragm and lungs can also cause shortness of breath. Through a variety of causes, bloating is most commonly due to buildup of gas in the stomach, small intestine, or colon. The pressure sensation is often relieved, or at least lessened, by belching or flatulence. Medications that settle gas in the stomach and intestines are also commonly used to treat the discomfort and lessen the abdominal distension.

Management of ulcerative colitis involves first treating the acute symptoms of the disease, then maintaining remission. Ulcerative colitis is a form of colitis, a disease of the intestine, specifically the large intestine or colon, that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually diarrhea mixed with blood, of gradual onset which often leads to anaemia. Ulcerative colitis is, however, a systemic disease that affects many parts of the body outside the intestine.

Dysbiosis is characterized by a disruption to the microbiome resulting in an imbalance in the microbiota, changes in their functional composition and metabolic activities, or a shift in their local distribution. For example, a part of the human microbiota such as the skin flora, gut flora, or vaginal flora, can become deranged, with normally dominating species underrepresented and normally outcompeted or contained species increasing to fill the void. Similar to the human gut microbiome, diverse microbes colonize the plant rhizosphere, and dysbiosis in the rhizosphere, can negatively impact plant health. Dysbiosis is most commonly reported as a condition in the gastrointestinal tract or plant rhizosphere.

<span class="mw-page-title-main">Biological therapy for inflammatory bowel disease</span>

Biological therapy, the use of medications called biopharmaceuticals or biologics that are tailored to specifically target an immune or genetic mediator of disease, plays a major role in the treatment of inflammatory bowel disease. Even for diseases of unknown cause, molecules that are involved in the disease process have been identified, and can be targeted for biological therapy. Many of these molecules, which are mainly cytokines, are directly involved in the immune system. Biological therapy has found a niche in the management of cancer, autoimmune diseases, and diseases of unknown cause that result in symptoms due to immune related mechanisms.

<span class="mw-page-title-main">Enteropathic arthropathy</span> Medical condition

Enteropathic arthropathy commonly referred to as enteropathic arthritis, is a type of arthritis linked to Crohn's disease, ulcerative colitis, and chronic inflammatory bowel diseases.

Serum-derived bovine immunoglobulin/protein isolate (SBI) is a medical food product derived from bovine serum obtained from adult cows in the United States. It is sold under the name EnteraGam.

<span class="mw-page-title-main">Intestinal mucosal barrier</span>

The intestinal mucosal barrier, also referred to as intestinal barrier, refers to the property of the intestinal mucosa that ensures adequate containment of undesirable luminal contents within the intestine while preserving the ability to absorb nutrients. The separation it provides between the body and the gut prevents the uncontrolled translocation of luminal contents into the body proper. Its role in protecting the mucosal tissues and circulatory system from exposure to pro-inflammatory molecules, such as microorganisms, toxins, and antigens is vital for the maintenance of health and well-being. Intestinal mucosal barrier dysfunction has been implicated in numerous health conditions such as: food allergies, microbial infections, irritable bowel syndrome, inflammatory bowel disease, celiac disease, metabolic syndrome, non-alcoholic fatty liver disease, diabetes, and septic shock.

<span class="mw-page-title-main">Colonic ulcer</span> Medical condition

Colonic ulcer can occur at any age, in children however they are rare. Most common symptoms are abdominal pain and hematochezia.

Not to be confused with Autoimmune disease.

References

  1. 1 2 Uhlig, Holm H.; Schwerd, Tobias; Koletzko, Sibylle; Shah, Neil; Kammermeier, Jochen; Elkadri, Abdul; Ouahed, Jodie; Wilson, David C.; Travis, Simon P. (November 2014). "The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease". Gastroenterology. 147 (5): 990–1007.e3. doi:10.1053/j.gastro.2014.07.023. ISSN   0016-5085. PMC   5376484 . PMID   25058236.
  2. Kelsen, Judith; Sullivan, Kathleen (2017). Pediatric Inflammatory Bowel Disease. Springer, Cham. pp. 55–67. doi:10.1007/978-3-319-49215-5_5. ISBN   9783319492131.
  3. Uhlig, Holm H. (2013-12-01). "Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease". Gut. 62 (12): 1795–1805. doi:10.1136/gutjnl-2012-303956. ISSN   0017-5749. PMID   24203055. S2CID   5081289.