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Published on: November 25, 2017
Long term outcome of MPI-CDG patients on D-mannose therapy
Muriel Girard1,2,3, Claire Douillard4, Dominique Debray1,3
1Paediatic Liver Unit, National Reference Center for Biliary Atresia and Genetic Cholestasis and French Network for Rare Liver Disease (Filfoie) Necker-Enfants-Malades University Hospital, APHP, Paris, France.
Abstract:
Mannose phosphate isomerase MPI-CDG (formerly CDG-1b) is a potentially fatal inherited metabolic disease which is readily treatable with oral D-mannose. We retrospectively reviewed long-term outcomes of patients with MPI-CDG, all but one of whom were treated with D-mannose. Clinical, biological, and histological data were reviewed at diagnosis and on D-mannose treatment. Nine patients were diagnosed with MPI-CDG at a median age of 3 months. The presenting symptoms were diarrhea (n = 9), hepatomegaly (n = 9), hypoglycemia (n = 8), and protein loosing enteropathy (n = 7). All patients survived except the untreated one who died at 2 years of age. Oral D-mannose was started in eight patients at a median age of 7 months (mean 38 months), with a median follow-up on treatment of 14 years 9 months (1.5-20 years). On treatment, two patients developed severe portal hypertension, two developed venous thrombosis, and 1 displayed altered kidney function. Poor compliance with D-mannose was correlated with recurrence of diarrhea, thrombosis, and abnormal biological parameters including coagulation factors and transferrin profiles. Liver fibrosis persisted despite treatment, but two patients showed improved liver architecture during follow-up. This study highlights (i) the efficacy and safety of D-mannose treatment with a median follow-up on treatment of almost 15 years (ii) the need for life-long treatment (iii) the risk of relapse with poor compliance, (iii) the importance of portal hypertension screening (iv) the need to be aware of venous and renal complications in adulthood.
Insights
Mannose phosphate isomerase Congenital Disorder of Glycosylation (MPI-CDG) is a serious inherited metabolic disease effectively treated with D-mannose. Long-term D-mannose therapy demonstrates efficacy and safety, emphasizing lifelong adherence for disease management.
Area of Science:
- Metabolic Disorders
- Genetics
- Pediatrics
Background:
- Mannose phosphate isomerase Congenital Disorder of Glycosylation (MPI-CDG), previously known as CDG-1b, is a severe inherited metabolic condition.
- MPI-CDG presents with significant gastrointestinal and metabolic symptoms, including diarrhea, hepatomegaly, hypoglycemia, and protein-losing enteropathy.
Purpose of the Study:
- To retrospectively review the long-term outcomes of patients diagnosed with MPI-CDG.
- To evaluate the efficacy and safety of oral D-mannose treatment in MPI-CDG patients.
- To identify potential complications and factors influencing treatment outcomes.
Main Methods:
- Retrospective review of clinical, biological, and histological data from MPI-CDG patients.
- Analysis of data at diagnosis and during long-term D-mannose treatment.
- Correlation of treatment compliance with patient outcomes and disease parameters.
Main Results:
- D-mannose treatment led to survival in all treated patients, contrasting with the untreated patient's mortality.
- Long-term D-mannose therapy (median follow-up of nearly 15 years) showed efficacy but identified risks including portal hypertension, venous thrombosis, and renal complications.
- Poor compliance was linked to disease relapse, including recurrent diarrhea, thrombosis, and abnormal biological markers.
Conclusions:
- Oral D-mannose is an effective and safe lifelong treatment for MPI-CDG.
- Continuous monitoring for complications like portal hypertension, venous thrombosis, and renal issues is crucial.
- Patient compliance is vital for preventing relapses and managing the disease effectively.
