Billy Chang, Nelson Chang, Ronak Patel, Christina McGrath, Dmitry V. Kravtsov, M.D., and Ludmila Kvochina, Ph.D., M.D

Abstract

Many children affected by the genetic intestinal disorder known as microvillus inclusion disease (MVID) may not live to see their third birthday. Given MVID’s rarity, it can be difficult for doctors, researchers, and parents confronted with the devastating disease to locate necessary data related to the disorder, presenting challenges with research, diagnosis, and the development of treatment strategies.

To address this knowledge gap, this paper summarizes data trends compiled from all known literature published globally on the disease and includes a comprehensive review of the outcome of treatment methods employed.

Microvillus inclusion disease (MVID)

Microvillus inclusion disease (MVID) is an exceedingly rare intestinal disease presenting early in the neonatal period, with affected infants developing intractable diarrhea within hours, days, or months after birth. The severity of diarrhea in MVID patients is such that patients are unable to absorb fluids, nutrients, or electrolytes; thus malnutrition and dehydration are inevitable and often lethal if the condition is not appropriately treated.

The inherently small population of patients with MVID presents challenges regarding the breadth of scientific and medical knowledge pertaining to the disease. This means that diagnosis can require long-distance travel to visit multiple hospitals and specialists over the course of several months. In areas without medical expertise of the disease, families and doctors of MVID patients often conduct their own research to better understand the disease.

Given the rarity of MVID, most case reports are either single reports or compilations of previous cases. Individual characteristics and data trends related to the disease have not previously been compiled. This paper includes the first comprehensive analysis of all known literature published globally on MVID since the first case report (356 reports total, spanning from 1978 to 2017) – aggregating data related to patient location, gender, disease onset, and outcomes of the various treatment strategies employed.

Additionally, this paper analyzes the mechanism behind attempted treatment strategies demonstrating any degree of positive outcome, concluding that no effective long-term treatment strategies currently exist outside of total parenteral nutrition (TPN) and small bowel transplantation. This indicates a need for the accelerated development of new medicine to improve the quality of life and extend the lifespan of MVID patients.

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Disclosure:The authors are employees of Vanessa Research.