Amyloidosis: What does pathology offer? The evolving field of tissue biopsy

Since the mid-nineteenth century pathology has followed the convoluted story of amyloidosis, recognized its morphology in tissues and made identification possible using specific staining. Since then, pathology studies have made a significant contribution and advanced knowledge of the disease, so providing valuable information on the pathophysiology of amyloid aggregation and opening the way to clinical studies and non-invasive diagnostic techniques. As amyloidosis is a heterogeneous disease with various organ and tissue deposition patterns, histology evaluation, far from offering a simple yes/no indication of amyloid presence, can provide a wide spectrum of qualitative and quantitative information related to and changing with the etiology of the disease, the comorbidities and the clinical characteristics of patients. With the exception of cardiac transthyretin related amyloidosis cases, which today can be diagnosed using non-biopsy algorithms when stringent clinical criteria are met, tissue biopsy is still an essential tool for a definitive diagnosis in doubtful cases and also to define etiology by typing amyloid fibrils. This review describes the histologic approach to amyloidosis today and the current role of tissue screening biopsy or targeted organ biopsy protocols in the light of present diagnostic algorithms and various clinical situations, with particular focus on endomyocardial and renal biopsies. Special attention is given to techniques for typing amyloid fibril proteins, necessary for the new therapies available today for cardiac transthyretin related amyloidosis and to avoid patients receiving inappropriate chemotherapy in presence of plasma cell dyscrasia unrelated to amyloidosis. As the disease is still burdened with high mortality, the role of tissue biopsy in early diagnosis to assure prompt treatment is also mentioned

A "mysterious" intrabdominal mass with infectious origin, in a patient with HIV infection under control. A "delayed diagnosis" allows to enlarge our knowledge, by assessing a rare disease

A probable case report of an abdominal botryomycosis has been hypothesized in a patient with a stable HIV infection under an effective antiretroviral therapy. Hyperpyrexia, abdominal pain and tenderness, and a thickening of small intestinal walls associated with multiple mesenteric adenopathies and a peritoneal involvement, prompted an ultrasonography-guided fine needle biopsy, and later a laparoscopy-laparotomy which excluded a neoplastic or lymphoproliferative disorders, showing only abundant fibrotic and necrotic-steatonecrotic tissue, with sparse multinuclear giant cells type Langhans. The prompt response to surgical intervention and a treatment with i.v. meropenem alone might be referred to a concurrent gram-negative infection of abdominal origin, until a late culture of an atypical Mycobacterium came to our attention over one month after the end of hospitalization. An updated literature search is presented and discussed, in relationship with the observed, extremely infrequent case reports of botryomycosis in different clinical settings

Updated diagnosis and graft involvement for visceral leishmaniasis in kidney transplant recipients: a case report and literature review

Visceral leishmaniasis (VL) has become a rising concern to transplantation teams, being associated with graft dysfunction and reduced survival of renal transplant recipients. Here, we describe a case of VL occurring in a kidney transplant (KT) recipient in Italy, a country in which Leishmania infantum is endemic and we reviewed the literature on the clinical course and diagnosis of VL in KT recipients residing or travelling to southern Europe

Macroscopic hematuria: A rare etiology in western countries

Although schistosomiasis is one of the most prevalent parasitic diseases worldwide, the infection frequently being found in migrants and travelers, its recognition in Italy may be delayed as patients may either present symptoms or be asymptomatic, especially with regard to localization in the bladder, in a similar way to other infectious diseases. We report a case of urinary schistosomiasis in a young African male with persistent hematuria which did not respond to antibiotic treatment administered on suspicion of a urinary bacterial infection. The present case indicates that urinary schistosomiasis should be ruled out, especially in those patients presenting symptoms and coming from areas known to be endemic for helminthiasis. Finally, bladder polyps must be ruled out in cases of migrants with unexplained urinary inflammation associated either with or without hematuria

A “mysterious” intrabdominal mass with infectious origin, in a patient with HIV infection under control. A “delayed diagnosis” allows to enlarge our knowledge, by assessing a rare disease

A probable case report of an abdominal botryomycosis has been hypothesized in a patient with a stable HIV infection under an effective antiretroviral therapy. Hyperpyrexia, abdominal pain and tenderness, and a thickening of small intestinal walls associated with multiple mesenteric adenopathies and a peritoneal involvement, prompted an ultrasonography-guided fine needle biopsy, and later a laparoscopy-laparotomy which excluded a neoplastic or lymphoproliferative disorders, showing only abundant fibrotic and necrotic-steatonecrotic tissue, with sparse multinuclear giant cells type Langhans. The prompt response to surgical intervention and a treatment with i.v. meropenem alone might be referred to a concurrent gram-negative infection of abdominal origin, until a late culture of an atypical Mycobacterium came to our attention over one month after the end of hospitalization. An updated literature search is presented and discussed, in relationship with the observed, extremely infrequent case reports of botryomycosis in different clinical settings

Renal diffusion tensor imaging: Is it possible to define the tubular pathway? A case report

The authors report a case of unilateral xanthogranulomatous pyelonephritis, associated with chronic lithiasis studied by standard clinical magnetic resonance imaging protocol and diffusion tensor imaging (DTI). Maps of apparent diffusion coefficient (ADC) and fractional anisotropy (FA) and tractography were reconstructed on both healthy and pathologic kidney. ADC and FA values are in agreement with the literature. Tractography reconstruction of tubular renal architecture was confirmed by histology. This result suggests the potential ability of DTI to detect structural alterations in the architecture of the kidney, as noninvasive tool, preceding the onset of clinical-laboratory alterations. \ua9 2011 Elsevier Inc

Rituximab as possible therapy in TNF inhibitor-induced IgA vasculitis with severe renal involvement

Abstract Background We observe the increasing use of tumor necrosis factor (TNF) inhibitors in patients affected by chronic inflammatory diseases. These drugs provide good control of symptoms, contributing to significant improvement in the quality of life in individuals with high disease burden. On the other hand, along with their wider use and longer follow-up periods the number of reports regarding their adverse effects is also increasing. The reported complications include drug-induced vasculitis with possible kidney involvement. In the literature we can distinguish more frequently described ANCA-associated vasculitis and more rarely occurring immunoglobulin A vasculitis. Although uncommon, such complications may present with potentially life-threatening vital organ dysfunction; therefore, adequate monitoring and effective therapy are necessary. Case presentation We report two cases of TNF inhibitor-induced vasculitis with severe acute worsening of renal function and significant proteinuria. The first patient was receiving golimumab therapy for ankylosing spondylitis and the second patient was treated with adalimumab for psoriasis and psoriatic arthritis. In the second case dialysis treatment was necessary and the patient presented recurrence of vasculitis after rechallenge with adalimumab. Both patients underwent renal biopsy which showed findings compatible with drug-induced IgA vasculitis and both were treated successfully with corticosteroids and rituximab. Conclusions To the best of our knowledge this is the first report of rituximab use in drug-induced IgA vasculitis with renal involvement. Combination of corticosteroids and rituximab can be an effective therapy in case of vasculitis with kidney failure and a preferable option for selected patients with drug-induced IgA vasculitis compared to cyclophosphamide. More studies are necessary to establish suitable short- and long-term treatment. Given the rarity of this disorder, case reports and case series can provide practical guidance until additional studies become available

Acute granulomatous interstitial nephritis and ulcerative colitis: a case report and literature review

Tubulo-interstitial nephritis (TIN) in patients affected by inflammatory bowel disease, both ulcerative colitis and Crohn’s disease, is usually considered as drug-associated to aminosalicylate. We report a rare case of granulomatous active tubulo-interstitial nephritis in a young patient with a recent diagnosis of ulcerative colitis naïve to aminosalicylate treatment. The patient has been successfully treated with steroids administration. Our purpose is to sensitize that TIN should always to be considered in differential diagnosis an extra-intestinal manifestation of bowel disease