Microvillus Inclusion Disease (MVID) Symptoms, Causes And Treatment Options

Posted on Posted in Uncategorized

Microvillus Inclusion Disease (MVID) is a rare genetic disorder that primarily affects the small intestine’s lining, leading to severe digestive problems in affected individuals. This condition, also known as Davidson-Wiedemann syndrome, was first described in the 1970s and has since been the subject of extensive research to better understand it’s causes, symptoms, and treatments. In this article, we will look into the various aspects of Microvillus Inclusion Disease, including it’s genetic basis, clinical presentation, diagnosis, and management.

The Genetic Basis Of Microvillus Inclusion Disease

MVID is a genetic disorder, which means it is caused by mutations in specific genes. In the case of MVID, the mutations primarily affect two genes: MYO5B and STX3. These genes play important roles in the proper functioning of microvilli, tiny hair-like structures that line the small intestine’s surface. Microvilli are responsible for absorbing nutrients from food as it passes through the digestive system.

MYO5B gene mutations disrupt the transport of proteins within the cells of the intestinal lining. This disruption leads to the abnormal formation of microvilli and their inclusion within the cells, hence the name “Microvillus Inclusion Disease.” STX3 gene mutations also play a role in the disorder, affecting the secretion of digestive enzymes in the small intestine.

Clinical Presentation Of Microvillus Inclusion Disease

MVID typically presents in early infancy, with affected infants showing signs of severe diarrhea and malnutrition shortly after birth. These symptoms can be life threatening if not addressed on time. The key clinical features of Microvillus Inclusion Disease includes:

  1. Chronic Diarrhea: This is one of the hallmark symptoms of MVID. Infants with MVID pass large volumes of watery diarrhea, which can lead to dehydration and electrolyte imbalances.
  2. Malnutrition: Due to the impaired absorption of nutrients in the small intestine, affected individuals often suffer from malnutrition, leading to poor growth and development.
  3. Vomiting: Some infants with MVID may experience frequent vomiting, which exacerbates the loss of vital nutrients.
  4. Failure to Thrive: Because of their inability to absorb nutrients effectively, children with MVID often fail to thrive and may appear smaller and underweight compared to their peers.
  5. Electrolyte Imbalances: Chronic diarrhea can result in imbalances in electrolytes such as sodium and potassium, which can lead to muscle weakness, heart irregularities, and other complications.
  6. Liver and Gallbladder Problems: In some cases, MVID can lead to liver and gallbladder complications, including gallstones.

Diagnosis Of Microvillus Inclusion Disease

Diagnosing Microvillus Inclusion Disease can be challenging due to it’s rarity and the similarity of it’s symptoms to other gastrointestinal disorders. Diagnostic steps may include:

  1. Clinical Evaluation: A healthcare provider will conduct a thorough physical examination and review the patient’s medical history, focusing on symptoms such as chronic diarrhea and malnutrition.
  2. Genetic Testing: Genetic testing is an important diagnostic tool for MVID. It involves analyzing the patient’s DNA to identify mutations in the MYO5B and STX3 genes.
  3. Endoscopy: An endoscopy may be performed to visualize the small intestine’s lining and confirm the presence of microvillus inclusions.
  4. Biopsy: Tissue samples obtained through endoscopy can be examined under a microscope to confirm the diagnosis by identifying the characteristic abnormalities in the microvilli.

Management and Treatment

While there is no cure for Microvillus Inclusion Disease, management strategies aim to reduce symptoms, improve nutritional status, and enhance the overall quality of life for affected individuals. Treatment options and strategies may include:

  1. Nutritional Support: Infants with MVID often require specialized infant formula or total parenteral nutrition (TPN) to meet their nutritional needs.
  2. Fluid and Electrolyte Management: Due to chronic diarrhea, patients may require ongoing monitoring and management of fluid and electrolyte imbalances.
  3. Gastrointestinal Medications: Medications such as antidiarrheal drugs and acid blocking medications may be prescribed to manage symptoms.
  4. Surgery: In some cases, surgery may be necessary to address complications such as intestinal strictures or perforations.
  5. Genetic Counseling: For families affected by MVID, genetic counseling can provide valuable information about the inheritance pattern and recurrence risk in future pregnancies.

Prognosis

The prognosis for individuals with Microvillus Inclusion Disease can vary widely depending on how severe their condition is and the timeliness of diagnosis and intervention. While some individuals may require lifelong medical support, others may experience improvement in their symptoms with appropriate treatment. Advances in medical care and research continues to offer hope for better outcomes and potential future treatments for MVID.

Takeaway

Microvillus Inclusion Disease is a rare genetic disorder characterized by severe gastrointestinal symptoms that affect infants from birth. Understanding it’s genetic basis, clinical presentation, diagnosis, and management is important for healthcare providers, affected individuals, and their families. While there is currently no cure for MVID, ongoing research and advances in medical care offer hope for improved outcomes and a better quality of life for those living with this challenging condition. Early diagnosis and intervention remain essential in providing the best possible care and support for individuals with MVID.