YO34 - A recalcitrant case of chronic diarrhea in a young female and a near miss in diagnosis – a case report

Case summary

Background:

Chronic diarrhea poses a diagnostic challenge in view of its broad spectrum of etiologies causing significant morbidity & mortality. We report a young female with chronic diarrhea with prolonged diagnostic dilemma nearly leading to a fatal outcome.

Case report:

A 27-year-old female with chronic diarrhea was worked up - TTG IgA and IgG, fecal calprotectin, stool routine, blood cultures, stool PCR assays for infection - were negative. CT enterocylsis revealed thickening of large and small bowel. Colonoscopic biopsy showed ulcerated chronic Ileitis and colitis. She was tried on anti-TB and anti-IBD courses. Despite that she suffered with diarrhea, weight loss and frequent admissions for dehydration, metabolic acidosis, AKI requiring Hemodialysis. She consulted us with chronic diarrhea, severe malnutrition, skin rash and cachexia. She had pancytopenia with rouleaux formation, reversal of A/G ratio and high LDH. M-spike and IFE showed an IgM-k spike (Serum IgM levels – 4.3gm%). A bone marrow biopsy and IHC showed hypocellular marrow with interstitial nodular lymphoid aggregates of CD5/CD10 negative lymphoplasmacytic lymphoma. 18F-FDG PET/CT was suggestive of diffuse small and large bowel uptake suggestive of lymphomatous involvement. With this, she was diagnosed as Waldenstrom’s Macroglobulinemia with intestinal involvement. She received bortezomib-rituximab-dexa regimen with complete response of disease at end of 6^th month.

Discussion:

Waldenström macroglubinemia (WM) is a rare indolent lymphoproliferative neoplasm involved in 6^th and 7^th decade of age presenting with neurological manifestations due to serum hyper viscosity. The index patient was in her mid-twenties with skin and gut involvement. WM rarely involves Gastrointestinal tract by infiltration of lamina propria of GI tract by IgM paraprotein or by malignant cells themselves.

Conclusion:

High index of suspicion of malignancy as a potential cause for chronic diarrhoea is required especially when other usual causes weren’t apparent. Subtle features like rouleaux formation in peripheral smear, reversal of A/G ratio, high LDH should raise alarm bell of a paraproteinemia.

Clinical trial identification

Editorial acknowledgement