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What Is Microvillus Inclusion Disease?
Written by Medicover Team and Medically Reviewed by Dr Rohini Muriki , Gastroenterologists Medical
Microvillus Inclusion Disease (MVID) is a rare genetic condition that affects the intestinal system, impairing nutrient absorption and causing severe, life-threatening diarrhea in newborns.
Early diagnosis and complete care are important aspects in the management of this challenging gastrointestinal disorder, and allows for a better quality of life for the infants.
What are the Microvillus Inclusion Disease Symptoms and Warning Signs?
Early detection of Microvillus Inclusion Disease is critical due to its rapid onset in infancy. Understanding the symptoms can help parents and healthcare providers seek timely intervention.
Common Symptoms
- Persistent, watery diarrhea from birth
- Poor weight gain
- Dehydration
- Chronic malnutrition
Severe Symptoms
- Metabolic acidosis (acid buildup in the body)
- Edema (swelling from fluid retention)
- Immune system deficiencies
- Growth retardation
What are the Common Causes and Risk Factors of Microvillus Inclusion Disease?
Recognition of such genetic basis and potential risk factors is beneficial for early diagnosis and family counseling.
Causes
- Mutations in the MYO5 B gene, responsible for cell structure and microvilli transport
Risk Factors
- Family history of MVID
- Consanguinity (marriage within close relatives)
- Autosomal recessive inheritance (both parents must carry the gene)
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Get Second OpinionHow is Microvillus Inclusion Disease Diagnosed?
Due to its rarity and overlapping symptoms with other GI disorders, diagnosing MVID involves a multi-step approach.
Common Diagnostic Tests
- Clinical evaluation: Based on early-onset diarrhoea and growth failure
- Stool and blood tests: Identify malabsorption, electrolyte imbalances, and acidosis
- Small intestine biopsy: Confirms villous atrophy and microvillus inclusions
- Electron microscopy: Visualises microvillus abnormalities for definitive diagnosis
Note: At Medicover, we utilise advanced histopathology and genetic testing capabilities to ensure accurate diagnosis of rare genetic disorders, such as MVID.
What are the Treatment Options for Microvillus Inclusion Disease?
Although there is no permanent cure, several management strategies help stabilise patients and improve outcomes.
Available Treatments
- Parenteral nutrition: Nutrients delivered intravenously to bypass the damaged intestine
- Enteral feeding (if tolerated): Specialised, easily absorbed formulas
- Medications: Supportive treatment for diarrhea and metabolic imbalance
- Intestinal transplantation: Considered for severe, non-responsive cases
Our multidisciplinary team of pediatric gastroenterologists, dietitians, and genetic counsellors provides personalised care plans that include nutritional therapy and ongoing monitoring.
When to See a Doctor?
Timely medical intervention can prevent serious complications in patients with MVID.
Consult a doctor if
- Your infant has diarrhoea lasting more than a few days after birth
- They show signs of dehydration or are not gaining weight
- There is a known family history of MVID
High-risk Groups
- Infants with consanguineous parentage
- Families with prior diagnosed cases of MVID
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What is the Recovery Process After Microvillus Inclusion Disease Treatment?
Post-treatment care is essential for managing long-term symptoms and preventing complications.
Recovery Expectations
- Lifelong dependence on parenteral nutrition in many cases
- Regular follow-up to monitor growth, nutrition, and liver health
- Infection prevention due to immune suppression
Lifestyle Recommendations
- Strict hygiene for catheter care
- Nutritional monitoring by specialised dietitians
What Precautions Can Help Prevent Microvillus Inclusion Disease?
While MVID cannot be entirely prevented, risk reduction is possible through genetic awareness and education.
Prevention
- Genetic counselling for at-risk couples
- Prenatal and carrier testing in families with known cases
Complications if Untreated
- Life-threatening dehydration
- Growth failure
- Repeated hospitalisations
- Risk of liver disease from long-term parenteral nutrition
Our Experience Treating Microvillus Inclusion Disease
At Medicover, we understand the emotional and medical challenges families face with rare genetic disorders like Microvillus Inclusion Disease.
Our pediatric gastroenterology specialists offer high-quality, compassionate care that focuses on the quality of life and long-term support for your child.
