From the Guidelines
The management of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) should focus on supportive care, addressing the underlying thymidine phosphorylase enzyme deficiency, and improving quality of life, as evidenced by the most recent study on the management of adult patients with severe chronic small intestinal dysmotility 1.
Key Components of Management
- Supportive care is essential and includes nutritional support through enteral or parenteral nutrition to address malnutrition and cachexia
- Pain management with medications like gabapentin or pregabalin for neuropathic pain
- Prokinetic agents such as metoclopramide for gastrointestinal dysmotility
- Antibiotics for bacterial overgrowth
- Physical therapy to maintain muscle strength and function
- Occupational therapy to assist with activities of daily living
Treatment Approaches
- Allogeneic hematopoietic stem cell transplantation (HSCT) can restore thymidine phosphorylase activity and potentially halt disease progression
- Enzyme replacement therapy with erythrocyte-encapsulated thymidine phosphorylase (EE-TP) may be considered for patients who are not candidates for HSCT
Monitoring and Quality of Life
- Regular monitoring of nutritional status, neurological function, and gastrointestinal symptoms is crucial
- The goal of treatment is to reduce the toxic accumulation of thymidine and deoxyuridine, which causes mitochondrial dysfunction leading to the multi-system manifestations of MNGIE, while providing symptomatic relief and improving quality of life, as supported by guidelines on parenteral nutrition 1.
From the Research
Management of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
The management of MNGIE is primarily focused on alleviating symptoms and improving quality of life, as there is no established cure for the disease. Some of the management strategies include:
- Symptomatic relief: Providing relief from gastrointestinal and neurological symptoms, such as diarrhea, abdominal pain, and peripheral neuropathy 2
- Dialysis: Peritoneal dialysis has been shown to be effective in reducing plasma levels of thymidine and deoxyuridine, and improving clinical symptoms 3
- Enzyme replacement therapy: This approach aims to replace the deficient thymidine phosphorylase enzyme, but its effectiveness is still being researched 4
- Allogeneic hematopoietic stem cell transplantation: This procedure has been shown to restore normal enzyme activity and improve clinical manifestations in some patients, but it is associated with high mortality rates due to transplant-related complications 4
- Gene therapy: New therapeutic approaches, such as adeno-associated viral vector and hematopoietic stem cell gene therapy, are being tested in animal models and may offer future treatment options for MNGIE patients 4
Treatment Options
Treatment options for MNGIE are limited, and most approaches are focused on managing symptoms and slowing disease progression. Some of the treatment options include:
- Supportive care: Providing nutritional support, managing gastrointestinal symptoms, and preventing complications such as infections and bleeding 5
- Pharmacological interventions: Using medications to manage symptoms such as pain, nausea, and vomiting 2
- Surgical interventions: In some cases, surgical interventions may be necessary to manage complications such as intestinal obstruction or bleeding 5
Emerging Therapies
Several emerging therapies are being researched for the treatment of MNGIE, including:
- Gene therapy: Aimed at replacing the defective thymidine phosphorylase gene and restoring normal enzyme activity 4
- Enzyme replacement therapy: Aimed at replacing the deficient thymidine phosphorylase enzyme and reducing plasma levels of thymidine and deoxyuridine 4
- Stem cell transplantation: Aimed at restoring normal enzyme activity and improving clinical manifestations in MNGIE patients 3, 4