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

• Intestinal Pseudoobstruction
• Hollow Visceral Myopathy

What is it? (Definition/Background Information)

• Intestinal Pseudo-Obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists
• Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms
• It may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality
• The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner) and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses
• The goal of treatment is to provide relief from symptoms and ensure that nutritional support is adequate

(Source: Intestinal Pseudo-Obstruction; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Intestinal Pseudo-Obstruction? (Age and Sex Distribution)

• Intestinal Pseudo-Obstruction is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Intestinal Pseudo-Obstruction? (Predisposing Factors)

• A positive family history may be an important risk factor, since Intestinal Pseudo-Obstruction can be inherited
• Certain illnesses may be responsible for the development of the condition, in some cases

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 Intestinal Pseudo-Obstruction? (Etiology)

• It may also be acquired after certain illnesses
• It may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality

(Source: Intestinal Pseudo-Obstruction; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Intestinal Pseudo-Obstruction?

The signs and symptoms of Intestinal Pseudo-Obstruction may include:

• Abdominal pain
• Vomiting
• Diarrhea
• Constipation
• Malabsorption of nutrients leading to weight loss and/or failure to thrive

(Source: Intestinal Pseudo-Obstruction; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Intestinal Pseudo-Obstruction Diagnosed?

Intestinal Pseudo-Obstruction 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

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 Intestinal Pseudo-Obstruction?

The complications of Intestinal Pseudo-Obstruction may include:

• Extreme fatigue
• Severe malnutrition, in some cases

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

How is Intestinal Pseudo-Obstruction Treated?

• The goal of treatment for Intestinal Pseudo-Obstruction is to provide relief from symptoms and ensure that nutritional support is adequate

(Source: Intestinal Pseudo-Obstruction; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Intestinal Pseudo-Obstruction be Prevented?

Currently, Intestinal Pseudo-Obstruction may not be preventable, if it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Intestinal Pseudo-Obstruction? (Outcomes/Resolutions)

• The prognosis of Intestinal Pseudo-Obstruction 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 Intestinal Pseudo-Obstruction:

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

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