What are the other Names for this Condition? (Also known as/Synonyms)

• CIP (Chronic Intestinal Pseudoobstruction)
• CIPO (Chronic Intestinal Pseudoobstruction)
• Pseudo-Obstruction Syndrome

What is Chronic Intestinal Pseudoobstruction? (Definition/Background Information)

• Chronic Intestinal Pseudoobstruction (CIP or CIPO) is a rare but serious condition characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists
• The most common symptoms are abdominal swelling or bloating (distention), vomiting, abdominal pain, failure to thrive, diarrhea, constipation, feeding intolerance and urinary symptoms
• CIPO can occur in people of any age. It may be primary or secondary 
  • Primary or idiopathic (where the cause is unknown) CIPO occurs by itself. Some people with primary CIPO have gain or loss of genetic material in the FLNA gene
  • Secondary CIPO develops as a complication of another medical condition
• Problems with nerves, muscles, or interstitial cells of Cajal (the cells that set the pace of intestinal contractions) prevent normal contractions and cause problems with the movement of food, fluid, and air through the intestines
• The diagnosis of Chronic Intestinal Pseudoobstruction is clinical and other conditions with similar symptoms should be ruled out
• Treatment may include nutritional support, medications, decompression or surgery. Management may require specialists from a variety of backgrounds

(Source: Chronic Intestinal Pseudoobstruction; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

• Primary Chronic Intestinal Pseudoobstruction can originate from abnormalities in the
  • Muscles of the gastrointestinal tract (myopathic or visceral myopathy)
  • Nerves of the gastrointestinal tract (neuropathic or visceral neuropathy)
• Primary CIPO may be present from birth (congenital), can be inherited (familial), or it may develop de-novo (spontaneous/sporadic)
• Secondary Chronic Intestinal Pseudoobstruction develops as a result of chronic and pre-existing conditions that may include endocrine, autoimmune, muscle, or neurological disorders, infections and cancer
• Children are typically affected with primary and sporadic CIPO, whereas adults are generally afflicted with secondary, sporadic CIPO

Who gets Chronic Intestinal Pseudoobstruction? (Age and Sex Distribution)

• Chronic Intestinal Pseudoobstruction is a rare disorder. The presentation of symptoms may occur at any age
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Chronic Intestinal Pseudoobstruction? (Predisposing Factors)

The risk factors for Chronic Intestinal Pseudoobstruction may include:

• A positive family history, since the condition may be inherited in rare cases
• Autoimmune disorders (such as lupus, rheumatoid arthritis and mixed connective tissue disorder)
• Diabetes
• Disorders that influence thyroid or parathyroid hormone levels in the body
• Infections that may include Epstein-Barr virus infection and cytomegalovirus infection
• Neurological disorders such as Parkinson’s disease
• Muscle disorders such as Duchenne muscular dystrophy
• Amyloidosis
• Certain cancers such as small cell carcinoma of lungs
• Exposure of fetus to toxins or alcohol during pregnancy

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Chronic Intestinal Pseudoobstruction? (Etiology)

• Chronic Intestinal Pseudoobstruction is caused by problems with nerves, muscles, or interstitial cells of Cajal (the cells that set the pace of intestinal contractions), which prevent normal contractions and cause problems with the movement of food, fluid, and air through the intestines
• Most cases of Chronic Intestinal Pseudoobstruction are sporadic and occur spontaneously
• In some cases, however, Chronic Intestinal Pseudoobstruction may be caused by heritable genetic changes to some genes, including FLNA

(Source: Chronic Intestinal Pseudoobstruction; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

• The familial type of Chronic Intestinal Pseudoobstruction may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the gene that is mutated

Autosomal dominant inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

X-linked recessive pattern of inheritance: In this case, the gene associated with the condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

What are the Signs and Symptoms of Chronic Intestinal Pseudoobstruction?

The signs and symptoms of Chronic Intestinal Pseudoobstruction may vary among affected individuals in type and severity.

• Abnormality of nervous system morphology
• Abnormal plateletmorphology
• Intestinal malrotation
• Patent ductus arteriosus
• Pyloric stenosis

(Source: Chronic Intestinal Pseudoobstruction; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

• Swallowing difficulties
• Heartburn
• Chest pain
• Bloating
• Nausea and vomiting
• Abdominal pain
• Constipation
• Feeling full after a small meal
• Lack of appetite; weight loss
• Difficulty with urination

How is Chronic Intestinal Pseudoobstruction Diagnosed?

Chronic Intestinal Pseudoobstruction is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary
• Tests to rule out conditions that may present with similar signs and symptoms

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Chronic Intestinal Pseudoobstruction?

The complications of Chronic Intestinal Pseudoobstruction may include:

• Malabsorption
• Bacterial infections
• Severe weight loss
• Cachexia, or weakness and muscle-wasting of body

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Chronic Intestinal Pseudoobstruction Treated?

• The treatment for Chronic Intestinal Pseudoobstruction is usually given to manage the signs and symptoms and any complication that develops
• Treatment may include nutritional support, medications, decompression or surgery

(Source: Chronic Intestinal Pseudoobstruction; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How can Chronic Intestinal Pseudoobstruction be Prevented?

Chronic Intestinal Pseudoobstruction may not be preventable, if it is an inherited disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Seeking medical attention for systemic diseases and following treatment regimen for the same may help reduce the severity of CIPO
• Active research is currently being performed to explore the possibilities for treatment and prevention of disorders such as CIPO
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Chronic Intestinal Pseudoobstruction? (Outcomes/Resolutions)

• The prognosis of Chronic Intestinal Pseudoobstruction is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Chronic Intestinal Pseudoobstruction:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/