Microvillus Inclusion Disease (MVID)

What is microvillus inclusion disease?

Microvillus inclusion disease (MVID) is a rare, genetic disorder of the intestines. It is characterized by malabsorption and chronic, watery diarrhea that typically begins soon after birth. This condition was first recognized in 1978.

What are the symptoms of microvillus inclusion disease?

The major symptom of MVID is chronic, watery diarrhea that begins within 72 hours after birth (unless one is impacted by a rare, late-onset form). This symptom does not subside with time. Affected individuals also experience malabsorption of nutrients, developmental delay, weight loss, and intrauterine growth restriction. 

Complications of this condition are severe and can be life-threatening. These include metabolic acidosis, severe dehydration, kidney failure, cholestasis, and liver disease. 

What causes microvillus inclusion disease?

Those with MVID do not have fully developed cells in the surface walls of the small intestine, or those cells have degenerated. This occurs when a patient inherits a mutated Myo5b gene, which is done in an autosomal recessive pattern. In a small number of patients that have the late-onset form, a mutated syntaxin 3 gene is passed down instead. 

How is microvillus inclusion disease diagnosed?

First, doctors will rule out more common causes of diarrhea and dehydration. This is followed by a biopsy of the small intestine, which is examined using electron microscopy. Genetic testing will confirm the diagnosis. 

What are the treatments for microvillus inclusion disease?

There is no cure or treatment specific to MVID. Infants are treated with intravenous hydration and total parenteral nutrition (TPN). It is extremely important that a doctor closely monitors anyone on TPN, as it brings a high risk of liver failure, sepsis, and other organ disorders. In severe cases, a transplant of a small part of the small intestine is necessary. 

Where can I find out more about microvillus inclusion disease?

• NORD
• Boston Children’s Hospital
• Children’s Hospital of Pittsburgh