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Persistent diarrhea with petechial rash-unusual pattern of light chain amyloidosis deposition on skin and gastrointestinal biopsies:A case report

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World Journal of Clinical Cases 2022年第28期10卷 10252-10259页

作者： Shawna E Bilton Nikhil Shah Diana Dougherty Sarah Simpson Alex Holliday Farhad Sahebjam douglas J grider Department of Basic Science Education Virginia Tech Carilion School of MedicineRoanokeVA 24016United States Department of Internal Medicine Carilion ClinicRoanokeVA 24016United States Gastroenterology and Hepatology Section Department of Internal MedicineCarilion ClinicRoanokeVA 24016United States Dermatology Section Department of Internal MedicineCarilion ClinicRoanokeVA 24016United States Dominion Pathology Associates RoanokeVA 24018United States

BACKGROUND Amyloidosis is a rare disease characterized by extracellular deposition of misfolded protein aggregated into insoluble fibrils.Gastrointestinal involvement in systemic amyloidosis is common,but is often subclinical or presents as vague and nonspecific symptoms.It is rare for gastrointestinal symptoms to be the main presenting symptom in patients with systemic amyloidosis,causing it to be undiagnosed until late-stage disease.CASE SUMMARY A 53 year-old man with diarrhea,hematochezia,and weight loss presented to a community hospital.Colonoscopy with biopsy at that time was suspicious for Crohn disease.Due to worsening symptoms including nausea,vomiting,and a new petechial rash,an abdominal fat pad biopsy was done.The biopsy showed papillary and adnexal dermal amyloid deposition,in a pattern usually seen with cutaneous amyloidosis.However,Cytokeratin 5/6 was negative,excluding cutaneous amyloidosis.The patterns of nodular amyloidosis,subcutaneous amyloid deposits and perivascular amyloid were not seen.Periodic Acid-Schiff stain was negative for lipoid proteinosis,Congo red was positive for apple green birefringence on polarization and amyloid typing confirmed amyloid light chain amyloidosis.Repeat endoscopic biopsies of the gastrointestinal tract showed amyloid deposition from the esophagus to the rectum,in a pattern usually seen in serum amyloid A in the setting of chronic inflammatory diseases,including severe inflammatory bowel disease.Bone marrow biopsy showed kappa-restricted plasma cell neoplasm.CONCLUSION Described is an unusual presentation of primary systemic amyloidosis,highlighting the risk of misdiagnosis with subsequent significant organ dysfunction and high mortality.

关键词： Light chain amyloidosis Diarrhea Endoscopy Petechial rash Plasma cell dyscrasia Case report

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Fecal lactoferrin accurately reflects mucosal inflammation in inflammatory bowel disease

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World Journal of Gastrointestinal Pathophysiology 2019年第5期10卷 54-63页

作者： Marrieth G Rubio Kofi Amo-Mensah James M Gray Vu Q Nguyen Sam Nakat douglas grider Kim Love James H Boone Dario Sorrentino IBD Center-Division of Gastroenterology Virginia Tech Carilion School of MedicineRoanokeVA 24016United States Department of Radiology Virginia Tech Carilion School of MedicineRoanokeVA 24016United States Department of Basic Science Education Virginia Tech Carilion School of Medicine and Dominion Pathology Associates RoanokeVA 24016United States K.R.Love Quantitative Consulting and Collaboration AthensGA 30605United States Research and Development TECHLAB IncBlacksburgVA 24060United States Department of Clinical and Experimental Medical Sciences University of Udine School of MedicineUdine 33100Italy

BACKGROUND Studies have demonstrated a potential role for fecal biomarkers such as fecal calprotectin(FC)and fecal lactoferrin(FL)in monitoring inflammatory bowel diseases(IBD)-Crohn's disease(CD)and ulcerative colitis(UC).However,their correlation to endoscopic scores,disease severity and affected intestinal surface has not been extensively investigated.AIM To correlate FL,and for comparison white blood cell(WBC)and C-reactive protein(CRP),with endoscopic scores,disease extent and location in CD and UC.METHODS Retrospective analysis in 188 patients who had FL,CRP and WBC determined within 30 d of endoscopy.Disease location,disease extent(number of intestinal segments involved),disease severity(determined by endoscopic scores),timing of FL testing in relation to colonoscopy,as well as the use of effective fast acting medications(steroids and biologics)between colonoscopy and FL measurement,were recorded.RESULTS In 131 CD and 57 UC patients,both CRP and FL-but not WBC-distinguished disease severity(inactive,mild,moderate,severe).In patients receiving fastacting(steroids or biologics)treatment in between FL and colonoscopy,FL showed a higher correlation to endoscopic scores when tested before vs after the procedure(r=0.596,Psmall bowel)and the number of inflamed colon segments.CONCLUSION FL and CRP separated disease severity categories with FL showing lower discriminating P-values.FL showed a close correlation with the involved mucosal surface and with disease extent and was more closely correlated to endoscopy when determined before the procedure–this indicating that inflammatory activity changes associated with therapy might be rapidly reflected by FL levels.FL can accurately and timely characterize intestinal inflammation in IBD.

关键词： Inflammatory bowel disease Crohn’s disease Ulcerative colitis Fecal lactoferrin C-reactive protein White blood cell count Mucosal inflammation

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