Intestinal Pseudo-obstruction
Intestinal pseudo-obstruction is a condition where impaired muscle contractions prevent food from moving through the digestive tract, causing symptoms of a blockage without any physical obstruction.
Overview
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).
When intestinal pseudo-obstruction occurs without additional features, it is called primary or idiopathic intestinal pseudo-obstruction. When the disorder occurs along with other signs and symptoms or as a complication of another health condition, it is called secondary intestinal pseudo-obstruction. The condition can occur once in a while (acute) or steadily (chronic).
Symptoms and Complications
Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines. This buildup can cause symptoms that resemble an intestinal blockage (obstruction), but no physical blockage is found. Common symptoms include:
- Abdominal swelling (distention) and pain
- Nausea and vomiting
- Constipation or diarrhea
- Loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition
Depending on the cause of the condition, affected individuals can experience additional signs and symptoms, including:
- Bladder dysfunction, such as an inability to pass urine
- Decreased muscle tone (hypotonia) or stiffness (spasticity) of the torso and limbs
- Weakness in the muscles that control eye movement (ophthalmoplegia)
- Intellectual disability
- Seizures
- Unusual facial features
- Recurrent infections
Frequency
The overall prevalence of intestinal pseudo-obstruction is unknown. Researchers in Japan have estimated the prevalence of chronic intestinal pseudo-obstruction in that country as 9 cases per million people.
Causes
Intestinal pseudo-obstruction can have different causes, including genetic variants and secondary complications from other conditions.
Genetic Causes
In some individuals with primary intestinal pseudo-obstruction, the condition is caused by genetic changes affecting specific genes:
- FLNA: This gene produces filamin A, which binds to actins to help form the cell's structural network (cytoskeleton). Variants in this gene are thought to reduce levels of filamin A or impair its function, affecting smooth muscle cell shape and layering in the gastrointestinal tract. This abnormal layering interferes with coordinated waves of contractions (peristalsis) that move food during digestion. A deletion or duplication of genetic material can affect all or part of the FLNA gene and adjacent genes on the X chromosome, which may account for additional symptoms.
- ACTG2: This gene provides instructions for making gamma-2 actin, which is found in smooth muscle cells of the intestinal and urinary tracts and is necessary for muscle contraction. Variants in this gene hinder the formation of actin filaments in the cytoskeleton, reducing the ability of
