Waldenström’s Macroglobulinaemia Presenting with Intestinal Lymphangiectasia and Chronic Diarrhea
Overview
A 52-year-old man with chronic diarrhea and significant weight loss was diagnosed with Waldenström’s macroglobulinaemia (WM) complicated by intestinal lymphangiectasia. Treatment with rituximab, cyclophosphamide, and dexamethasone led to clinical and endoscopic improvement.
Background
Waldenström’s macroglobulinaemia is a lymphoplasmacytic lymphoma characterized by an IgM monoclonal protein and bone marrow infiltration by clonal lymphoplasmacytic cells. Common symptoms include anemia, thrombocytopenia, hepatosplenomegaly, and lymphadenopathy, with hyperviscosity as a rare complication. Intestinal lymphangiectasia, a rare manifestation occurring in 1–3% of WM cases, results from IgM-phospholipid deposition causing lymphatic obstruction and gastrointestinal symptoms such as diarrhea.
Patient presented with chronic watery diarrhea, significant weight loss, and low BMI.
Laboratory tests showed anemia, hypoalbuminemia, elevated IgM and β2-microglobulin, and elevated inflammatory markers.
Endoscopy revealed diffuse white patch-like lesions in the duodenum and whitish nodularities in the terminal ileum and jejunum.
Histology demonstrated villous blunting and dilated lymphatic vessels filled with eosinophilic material, confirmed by D2-40 immunohistochemistry.
Bone marrow biopsy confirmed Waldenström’s macroglobulinaemia with MYD88 L265P mutation and clonal lymphoplasmacytic infiltration.
After four cycles of RCD chemotherapy, partial response was achieved with clinical symptom resolution and endoscopic lesion regression.
Clinical Implications
Clinicians should consider Waldenström’s macroglobulinaemia in patients presenting with chronic diarrhea and intestinal lymphangiectasia, especially when accompanied by elevated IgM levels and systemic symptoms. Early diagnosis and treatment with immunochemotherapy can lead to symptom resolution and improved nutritional status. Endoscopic and histological evaluation are essential for identifying intestinal involvement in WM.
Conclusion
Waldenström’s macroglobulinaemia can manifest with intestinal lymphangiectasia causing chronic diarrhea and malnutrition. Recognition of this rare presentation allows targeted therapy, resulting in clinical and endoscopic improvement.
References
Clinical Case Report 2024 -- Identifying the Underlying Factors of Chronic Diarrhea
