ABSTRACT
Introduction: IgM Multiple Myeloma (MM) is a rare subtype of MM consisting of <1% cases of MM. It is distinguished from Waldenstrom Macroglobinemia, which also produces IgM, by the absence of somatic mutation MYD88. We present a patient with a chief complaint of diarrhea which unknowingly led to his hematological diagnosis Case Description/Methods: A 64 year old male with RA-SLE overlap syndrome on steroids, and recent COVID19 pneumonia, had presented with 5 episodes of watery diarrhea every day and 40 Ib weight loss within 2 months. CT revealed small bowel enteritis and stool studies, including C. diff, cultures, ova and parasites were negative. Diarrhea persisted despite antibiotics, therefore an EGD and Colonoscopy were performed which showed duodenal lymphangiectasia and a normal colon. Duodenal biopsy revealed eosinophilic deposits in the villous lamina propria which stained for IgM and stained negative under congo red ruling out amyloidosis. SPEP and a bone marrow biopsy revealed monoclonal IgMspikes and plasma cells in the bone marrow suggesting MMalong with a co-existing population of CLL. Next-generation sequencing was negative forMYD88, supporting IgM MM instead of Waldenstrom. He developed a protein-losing enteropathy with dramatic hypoalbuminemia (albumin 0.9) and lower extremity edema and DVTs. He was started on chemotherapy and frequent albumin infusions. His diarrhea completely resolved, however not in time, as his other medical comorbidities lagged behind and he developed anasarca and continued to deteriorate. Discussion(s): Plasma cell dyscrasias such as IgM MM or more commonly Waldenstrom have rarely been reported to cause GI symptoms. GI involvement can include direct GI infiltration of plasma cells, IgM deposition, or the finding of a plasmacytoma. It has been speculated that IgM deposits can lead to interstitial viscosity and obstructive lymphangiectasia leading to diarrhea and a protein-losing enteropathy as in our patient. Protein loss has led him to have hypoalbuminemia and possibly loss of antithrombotic proteins that have caused DVTs. Few case reports have suggested that treating the underlying cause with chemotherapy stops diarrhea entirely. Although our patient's diarrhea ceased, we believe that it was not in time for him to entirely recover from the later complications of the disease. We hope that this case can help clinicians to attempt prompt treatment of patients when they find GI specimens showing IgM deposits and they suspect a plasma cell dyscrasia.
ABSTRACT
Background Coeliac disease (CD) is an immune mediated systemic disorder strongly associated with HLA DQ2 and DQ8 haplotypes.2 In 2012 The European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) recommended serology based No-Biopsy Approach to the diagnosis of CD if I - Perifollicular Petechiae the following criteria are met1: Design/Methods A 6-year retrospective study of all children who attended coeliac clinic at The Great North Children Hospital, Newcastle. Data obtained using electronic patient records included TGA-IgA, EMA-IgA, symptoms at initial presentation and histopathological reports. HLA typing results were obtained from the Regional NHS blood and transplant laboratory. 346 children with CD were reviewed in the coeliac clinic from July 2013 to July 2019. Age range 0.9 - 16.5 years (median 9.5 years) and 54% female. Exclusion criteria include diagnosed outside study period or the UK, TGA-IgA at initial presentation unavailable for review. Results 66% of cases had TGA-IgA >=10xULN at initial presentation. 48% were diagnosed by serology based No-Biopsy Approach (figure1). Duodenal biopsies were performed in 82 cases. Biopsies were performed for type1 diabetes -8.5% and asymptomatic patients with first-degree relative with CD -8.5% (figure 1). EMA-IgA positivity was reported in 65/68 cases with symptoms attributed to CD in 62 cases in the cohort. A total of 13/62 cases had HLA risk alleles DQ2 and/or DQ8 performed (figure 2). Conclusion(s)*HLA screening uptake was 63%. The low uptake of HLA typing may have contributed to the increased number of cases undergoing duodenal biopsies.*Based on 2012 guidelines 19% of cases had duodenal biopsies for diagnosis of CD despite meeting the criteria for no biopsy approach.*Based on 2020 guidelines 96% of cases had duodenal biopsies for diagnosis of CD despite meeting the criteria for no biopsy approach.*The changes in the CD guidelines from 2012 to 2020 have resulted in an increase from 16% to 96% of cases that may have benefitted from no biopsy approach to the diagnosis of CD.*A unifying approach to the diagnosis of the CD will reduce the variability in investigations.*The current restrictions to Aerosol Generating Procedures due to SARS-CoV -2 pandemic will have a positive impact on establishing a No-Biopsy approach to the diagnosis of CD.