Showing papers on "Primary systemic amyloidosis published in 2015"

A study of implanted cardiac rhythm recorders in advanced cardiac AL amyloidosis

Abstract: Aims AL amyloidosis may respond to chemotherapy but two-thirds of patients with severe cardiac involvement die within a year of diagnosis, purportedly from tachyarrhythmias or electromechanical dissociation. We sought to characterize the nature of cardiac arrhythmias in severe cardiac AL amyloidosis using implanted cardiac rhythm recorders. Methods and results Implantable loop recorders (ILRs) were inserted within 24 h of baseline evaluation at the UK National Amyloidosis Centre, into 20 consecutive patients with newly diagnosed severe cardiac AL amyloidosis and symptoms of syncope or pre-syncope. Weekly ILR recordings and additional recordings at the time of symptoms were obtained. Median (range) follow-up from baseline was 308 (10–399) days. Thirteen patients died, and median survival in the whole cohort was 61 days from device insertion. In each of eight evaluable cases, death was heralded by bradycardia, usually associated with complete atrioventricular block (CAVB), followed shortly thereafter by pulseless electrical activity. Four patients received pacemakers, a median (range) of 7 (3–38) h after development of symptomatic CAVB, but these did not prevent rapid cardiac decompensation and death in three cases. Despite 272 loop recordings, there was only one episode of non-sustained ventricular tachycardia, which was preceded by severe bradycardia. Patients who died had significantly worse global left ventricular strain on echocardiography ( P = 0.029) and reduced 6 min walk distance ( P = 0.048) at baseline compared with survivors. Conclusions The discovery that bradyarrhythmias heralded terminal cardiac decompensation in most patients with severe cardiac AL amyloidosis supports a study of prophylactic pacemaker insertion in this patient population.

Guidelines on the diagnosis and investigation of AL amyloidosis

Abstract: Julian D. Gillmore, Ashutosh Wechalekar, Jenny Bird, Jamie Cavenagh, Stephen Hawkins, Majid Kazmi, Helen J. Lachmann, Philip N. Hawkins and Guy Pratt on behalf of the BCSH Committee National Amyloidosis Centre, Division of Medicine, UCL, London, Department of Haematology, Bristol Haematology and Oncology Centre, Bristol, Department of Haematology, St Bartholomew’s Hospital, London, Department of Haematology, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, Departments of Oncology and Haematology, Guy’s & St Thomas’ NHS Foundation Trust, London, and Department of Haematology, Birmingham Heartlands Hospital and School of Cancer Sciences, University of Birmingham, Birmingham, UK

Extended follow up of high-dose melphalan and autologous stem cell transplantation after vincristine, doxorubicin, dexamethasone induction in amyloid light chain amyloidosis of the prospective phase II HOVON-41 study by the Dutch-Belgian Co-operative Trial Group for Hematology Oncology

Abstract: In a prospective multicenter phase II study, we evaluated the effect of three courses of vincristine, doxorubicin and dexamethasone followed by high-dose melphalan and autologous stem cell transplantation on an intention-to-treat basis. Sixty-nine newly diagnosed patients with amyloid light chain amyloidosis were included between November 2000 and January 2006: 37 men and 32 women with a median age of 56 years, including 46% of patients with cardiac and 22% of patients with involvement of 3 or 4 organs. Initial results presented in 2008 showed a 4-year overall survival rate of 62% among all the patients, while the 4-year survival rate after transplantation was 78%. Here we report the long-term follow-up data after a median follow up of 115 months of the patients still alive. Median survival of all patients was 96 months from registration and for the transplanted patients ten years from the date of transplantation. Twelve (12%) patients died during induction therapy with vincristine, doxorubicin and dexamethasone, including 8 patients (12%) due to treatment-related mortality. Two patients died within one month following high-dose melphalan. We conclude that vincristine, doxorubicin and dexamethasone should not be applied as induction therapy for intensification in amyloid light chain amyloidosis. However, a 2-step approach consisting of a non-intensive less toxic induction therapy followed by high-dose melphalan and autologous stem cell transplantation may result in extended survival in newly diagnosed patients with amyloid light chain amyloidosis (clinicaltrials.gov identifier: 01207094).

Osteoprotegerin is a significant prognostic factor for overall survival in patients with primary systemic amyloidosis independent of the Mayo staging.

Abstract: Bone metabolism has not been systematically studied in primary (AL) amyloidosis. Thus we prospectively evaluated bone remodeling indices in 102 patients with newly diagnosed AL amyloidosis, 35 healthy controls, 35 newly diagnosed myeloma and 40 monoclonal gammopathy of undetermined significance patients. Bone resorption markers (C-telopeptide of type-1 collagen, N-telopeptide of type-1 collagen) and osteoclast regulators (soluble receptor activator of nuclear factor-κB ligand (sRANKL), osteoprotegerin (OPG)) were increased in AL patients compared with controls (P 60 months; P=0.012). We conclude that increased OPG in AL is not only a compensation to osteoclast activation but may also reflect early cardiac damage and may identify patients at increased risk of death within those with earlier Mayo stage.

Primary systemic amyloidosis initially presenting with digestive symptoms: a case report and review of the literature

Abstract: Primary systemic amyloidosis (PSA) is one of systemic amyloidosis, characterized by clonal plasma cell disorder. The disease is rare and with high fatality. Signs and symptoms of PSA are various and complex, which depend on the organs involved. Here we report a case in which the patient initially suffered from gastrointestinal symptoms. Gradually periorbital purpura, skin fragility, and subsequent petechiae, ecchymoses and sclerosis of the distal limbs, appeared. Biopsy of his palmar skin showed scleroderma-like changes. However, histopathology of the petechiae lesion on forehead with Crystal Violet Staining prompted deposition of amyloid; gastric mucosal biopsy with Congo Red staining was also positive, which made clear the diagnosis of PSA. Bone marrow biopsy and serum immunofixation electrophoresis (IFE) revealed plasmacytosis and M proteinemia. Other examinations were performed to assess the function of organs. PSA was challenging due to the initial atypical clinical presentation and absence of biopsy with special staining. The case demonstrates that PSA should be considered in patients with multisystemic symptoms and biopsy with Congo Red staining should be performed to exclusively diagnose amyloidosis.

Primary Systemic Amyloidosis of the Eyelid: A Case Report

Abstract: Purpose: Amyloidosis involving the eyelid is a rare condition. We report a case of primary systemic amyloidosis of the eyelid. Case summary: A 26-year-old female presented with multiple nodules on the bilateral upper and lower eyelids that had stopped growing several years prior. Multiple pearl-colored small nodular lesions were present on the upper and lower eyelid bilaterally and no clinically specific signs were observed. Surgical excision, biopsy and electrocauterization were performed. Histological examination showed amorphous and eosinophilic substances on hematoxylin & eosin (HE56(7):1117-1121

Nodular primary localized cutaneous amyloidosis: presentation of 2 case reports and literature review

Abstract: The nodular primary localized cutaneous amyloidosis is rare and characterized by skin deposition of amyloid substance. There are cases of progression to invasive disease. The type of amyloid substance is not specific to this disease, also being found in primary systemic amyloidosis or systemic amyloidosis associated with multiple myeloma. The authors describe two cases of nodular primary localized cutaneous amyloidosis. A 70-year-old man underwent excision of papule on the mouth left commissure, and a 39-year-old woman with a vulva’s labia majora swelling that was excised, in which the histology revealed a nodular amyloidosis, both without systemic involvement. Although the prognosis is benign, the follow-up of the patient is required for early detection of a possible evolution to systemic disease, or exclusion of an underlying systemic amyloidosis.

Transverse Colon Perforation in a Patient with Primary Systemic Amyloidosis Associated with Multiple Myeloma

Abstract: Amyloidosis is caused by extracellular deposits of amyloid by plasma cells, which can be idiopathic, occur with chronic inflammatory conditions, familial, or be associated with Multiple Myeloma. The Gastrointestinal tract can be affected by amyloidosis and can lead to colonic perforation, which is a rare cause of Gastrointestinal perforation as there are only nine cases documented in the literature. The aim of this case report is to describe a patient present- ing with a colon perforation secondary to amyloidosis associated with Multiple Myeloma. A 66 year old male presented with diffuse abdominal pain, distention, and obstipation. Imaging demonstrated free air so he was taken to the operating room for a subtotal colectomy and end ileostomy for a transverse colon perforation. Pathology was consistent with amyloidosis in the colon. Further workup revealed that he had multiple organ systems affected by amyloid depos- its along with Multiple Myeloma. Given his cardiac involvement by amyloidosis he succumbed to the disease four weeks after diagnosis. In the setting of bowel perforation and multi-organ failure of unknown etiology it is important to keep protein deposition diseases such as amyloi- dosis in the differential diagnosis.

99mTc-MDP SPECT/CT demonstrating extraosseous periarticular amyloid deposits in primary systemic amyloidosis associated with multiple myeloma.

Abstract: Amyloidosis is a rare disorder characterized by variable extracellular accumulation of a complex substance consisting of proteinaceous fibrils (amyloid fibrils) and nonfibrillar glycoprotein or amyloid P component. We present a case of a primary systemic amyloidosis associated with multiple myeloma in a 48-year-old woman whose Tc-MDP SPECT/CT study revealed extraosseous periarticular uptake in amyloid deposits with no abnormal focal tracer uptake in the bone.

A case of extensive ischemic stroke due to primary systemic amyloidosis

Abstract: Background: Amyloidosis is an uncommon disorder characterized by deposition of insoluble pathologic amyloid fibrils in different tissues and has two main forms: systemic and localized. Primary systemic amyloidosis, as the most common type of systemic amyloidosis, is a clonal plasma cell disorder and ischemic stroke has been sporadically reported as its complication. Case Presentation: The patient was an 88-year-old man with reduced muscle force in his right side of the body, dysarthria on the morning of admission, and a history of skin lesions. Multiple ecchymotic skin lesions all over the body especially head and neck areas along with macroglossia were observed in skin and mucous membrane examination. Neurologic examination revealed hemiplegia of the right side and reduced but symmetric deep tendon reflexes, along with drowsiness and global aphasia. In brain computed tomography, extensive infarction of left cerebral hemisphere was observed and after skin biopsy, diagnosis of amyloidosis was confirmed. Due to massive infarction of one cerebral hemisphere and extensive skin lesions, the patient died ten days later. Conclusion: Extensive ischemic stroke may occur as a complication of primary systemic amyloidosis. Therefore, in every patient presenting with extensive ecchymotic skin lesions and stroke, this differential diagnosis should be considered. Moreover, the occurrence of ischemic stroke as the complication of primary systemic amyloidosis may lead to poor prognosis.

Autologous Stem Cell Transplantation in Patients With Primary Systemic Amyloidosis: Experience of a Tertiary Hospital

Abstract: Background Systemic immunoglobulin light-chain (AL) amyloidosis is a plasma cell dyscrasia that results from the deposition of insoluble fragments of immunoglobulin light or heavy chains. The subsequent disruption of organ function resulting from the extracellular deposition of these fragments ultimately leads to death. The median overall survival (OS) of patients ranges from 12 and 18 months down to 5 months in patients with cardiac involvement. Autologous hematopoietic stem cell transplantation (ASCT) is a treatment modality that achieves good response. The affected solid organ transplant (SOT) could improve performance status and have a favorable impact on survival. Methods Retrospective analysis of 11 AL amyloidosis patients who received ASCT from 2005 to 2013, 2 of them also underwent SOT. Results The 5-year OS depending on the number of organs involved (1 vs ≥2) was 100% versus 60% ( P = .13). With a median follow-up of 4.8 years (range, 1.6–8), 81% of patients are alive maintaining complete hematologic response (n = 6) and very good partial response (n = 3). The 5-year progression-free survival was 80% (range, 42%–94%). Two patients underwent cardiac and renal transplantation as a bridge to ASTC. None of the double transplant patients has died. Conclusion ASCT is an effective treatment option in patients with AL amyloidosis. In those with advanced single organ damage, SOT should be considered to improve the clinical outcome.

Systemic Amyloidosis in a Patient with Type 2 Diabetes Mellitus as a Uncommon Cause of Non-Diabetic Renal Disease

Abstract: Background: The incidence of non-diabetic renal disease is very high in type 2 diabetic patients. Systemic amyloidosis as one of the non-diabetic renal disease rarely occur in type 2 diabetes mellitus subjects and may have the high risk of early mortality. Case report and management: We report a case in a 66-year-old patient with legs edema, inappetence and frothy urine for 2 weeks. The patient was diagnosed type 2 diabetes on routine testing 10 years ago without any symptoms. The blood glucose was adequately controlled with diet and exercise. Physical examination showed edema of lower extremities and hepatomegaly. 24 hrs urinary protein was 4.7 g. Blood investigation showed slightly impaired liver function while other results incluing serological studies and bone marrow aspirate showed negative or in normal range. Funduscopy showed normal retinal blood vessels and optic disc. Echocardiography revealed cardiac amyloidosis with septal hypertrophy and the ultrasound scan revealed hepatomegaly. Hepatic biopsy was performed and diagnosis of systemic amyloidosis was made due to positive congo red staining. Conclusions: When massive proteinuria occurred in patient with type 2 diabetes and other internal organs like liver and heart are affected, superimposed systemic amyloidosis should be considered in particular

A rare case of primary systemic amyloidosis presenting with multiorgan involvement.

Abstract: References 1 House HR, Ehlers JP. Travel-related infections. Emerg Med Clin North Am 2008; 26: 499–516. 2 Palmieri JR, North D, Santo A. Furuncular myiasis of the foot caused by the tumbu fly, Cordylobia anthropophaga: report in a medical student returning from a medical mission trip to Tanzania. Int Med Case Rep J 2013; 6: 25–28. 3 Calderaro A, Peruzzi S, Gorrini C et al. Myiasis of the scalp due to Dermatobia hominis in a traveller returning from Brazil. Diagn Microbiol Infect Dis 2008; 60: 417–418. 4 Varani S, Tassinari D, Elleri D et al. A case of furuncular myiasis associated with systemic inflammation. Parasitol Int 2007; 56: 330–333. 5 Veraldi S, Gorani A, S€ uss L, Tadini G. Cutaneous myiasis caused by Dermatobia hominis. Pediatr Dermatol 1998; 15: 116–118. 6 Veraldi S, Francia C, Persico MC, La Vela V. Cutaneous myiasis caused by Dermatobia hominis acquired in Jamaica. West Indian Med J 2009; 58: 614–616. 7 Bongiorno MR, Pistone G, Aric o M. Myiasis with Dermatobia hominis in a Sicilian traveller returning from Peru. Travel Med Infect Dis 2007; 5: 196–198. 8 Garavelli PL, Rocchetti A. Dermatobia hominis myiasis: apropos of an imported case. Recenti Prog Med 1999; 90: 629. 9 Guidi B, Olivetti G, Sbordoni G, Garcovich A. Guess what! Diagnosis: cutaneous myiasis due to Dermatobia hominis. Eur J Dermatol 2001; 11: 259–260. 10 Caumes E, Carriere J, Guermonprez G, Bricaire F, Danis M, Gentilini M. Dermatoses associated with travel to tropical countries: a prospective study of the diagnosis and management of 269 patients presenting to a tropical disease unit. Clin Infect Dis 1995; 20: 542–548. 11 Rossi MA, Zucoloto S. Fatal cerebral myiasis caused by the tropical warble fly, Dermatobia hominis. Am J Trop Med Hyg 1973; 22: 267–269.