Showing papers on "Primary systemic amyloidosis published in 2016"

European Collaborative Study Defining Clinical Profile Outcomes and Novel Prognostic Criteria in Monoclonal Immunoglobulin M-Related Light Chain Amyloidosis

Abstract: PurposeImmunoglobulin M (IgM)–related light chain (AL) amyloidosis, which accounts for 6% to 10% of all AL amyloidosis cases, is a rare and poorly studied clinical entity. Its natural history and management is not clearly defined. Prognostic and response criteria for AL amyloidosis in general have not been validated in this population.Patients and MethodsWe retrospectively gathered data for 250 patients diagnosed with IgM AL amyloidosis from three European amyloidosis centers. Clinical features, hematologic response, and overall survival (OS) were analyzed. The current staging and response criteria in non-IgM AL amyloidosis was applied to this series to assess its utility in this patient cohort.ResultsPatients with IgM AL amyloidosis have a significant IgM paraprotein (median, 10 g/L), less frequent lambda light chain isotype, and evaluable difference between involved and uninvolved free light chains (dFLCs; > 50 mg/L) in only two thirds of patients. Bone marrow showed clear non-Hodgkin lymphoma as the un...

Primary Systemic Amyloidosis with Unusual Dermatological Manifestations: A Rare Case Report.

Abstract: Amyloidosis is a group of heterogeneous diseases characterized by pathological deposition of proteinaceous substance extracellularly in various tissues. The clinical presentation depends on the site of amyloid deposition, with predominant involvement of mesenchymal elements and cutaneous findings in 30-40% of patients in case of primary systemic amyloidosis. We present a case of idiopathic primary systemic amyloidosis presenting with an unusual finding of nodulo-ulcerative lesion over tongue along with multiple skin-colored nodules, mimicking squamous cell carcinoma of tongue with secondary cutaneous metastasis, as well as lacking the classical presentation of purpura, macroglossia, waxy papules, and plaques.

Systemic Amyloidosis with Predominant Spine Involvement: A Case Report

Abstract: Purpose: Primary systemic amyloidosis with main bone involvement is a rare disease. Clinical symptoms and radiographic findings are usually nonspecific and may be confused with primary bone tumor, metastatic disease, metabolic disorders or infections. The occurrence of an amyloidoma in the spine is rare. Methods: We describe the case of a 57-year old man presenting with a pathological fracture of T7 in presence of a large, soft tissue mass narrowing the spinal canal, responsible for a worsening paraplegia. Diagnosis of systemic amyloidosis was made after surgical treatment. Pathological examination showed an amorphous eosinophilic material, positive staining with Congo red, birefringence under polarized light relating to amyloid, with the presence of rare plasma cells. Results: After surgical procedure patient’s symptoms improved but with incomplete neurological recovery. PET-CT scan revealed multiple bone locations without, at the beginning, extra-skeletal involvement. The patient underwent oncological and surgical treatment with progression of the disease and visceral involvement. He died two years after the diagnosis. Conclusions: Bone involvement during systemic amyloidosis is rare and often underestimated, it had predominantly visceral involvement (kidney, heart, liver, gastrointestinal tract, lung) and unfavorable clinical course if not treated. Appropriate histopathologic studies are an essential step to define diagnosis and treatment of these patients. Treatment consists of chemotherapy, steroids, autologous blood stem cell transplantation and biologic antiinflammatory drugs. Spine localization can bring to nerves compression or pathological fracture and, in these cases, surgical treatment has a role to improve patient’s quality of life.

Oral purpura as the first manifestation of primary systemic amyloidosis

Abstract: Oral blood blisters and purpura are rare features of primary systemic amyloidosis (amyloid light-chain (AL) amyloidosis). We report a case in which these unusual presentations led to a diagnosis of amyloidosis, which enabled effective treatment before organ failure.

Neuroarthropathy of the foot revealing primary systemic amyloidosis: case report and literature review

Abstract: The aims of this review were to describe the case of a patient with debilitating neuroarthropathy of the ankles and feet and reveal a primary systemic (amyloid light chain, AL) amyloidosis and to review the relevant literature concerning the peripheral neuropathy and neuroarthropathy due to amyloidosis. We will emphasize the diagnostic pitfalls and discuss prognosis and treatments of both the peripheral neuropathy and the arthropathy related to AL amyloidosis. This is a descriptive case report of a patient with neuroarthropathy of the lower limbs due to AL amyloidosis. A review and discussion of relevant literature were conducted, based on a PubMed search from 1973 to December 2013. A 51-year-old female was diagnosed with AL amyloidosis after 20 months of investigation of small painful deformities of the feet. Chronic peripheral neuropathy occurs as a manifestation of AL amyloidosis in 25 % of cases. It may exceptionally be complicated by neuroarthropathy. In this case, the paucity of clinical and electrophysiological signs of the neuropathy delayed the diagnosis, leading to a severe arthropathy. The massive destruction of the joints dominated the clinical and the poor functional outcome. Diagnosis of AL amyloidosis should be considered in the presence of a mild peripheral neuropathy and a distal destructive and painless arthropathy. The two key diagnostic procedures are serum protein electrophoresis and nerve biopsy. Delay in treatment worsens the prognosis.

Primary Systemic Amyloidosis-A Great Mimicker

Abstract: A 40 year old female patient presented with myalgia and both knee joint pain for 3 years and raised skin lesions over both eyelids for 1 year. General examination and systemic examination were normal and vitals were stable. Dermatological examination showed multiple well defined erythematous smooth plaques over both eyelids, waxy papules over upper lips, microstomia, macroglossia, sclerodactyly, nodules over both suprascapular region, fixed flexion contracture of index and middle finger present. Routine investigations were normal. Serum protein electrophoresis showed band in gamma globulin region. Histopathology showed homogenous eosinophilic material in papillary dermis and dense fibrocollagenous tissue in reticular dermis. Congo red stain was positive. Hence diagnosis of primary systemic amyloidosis was made. Keywords: Sclerodactyly, macroglossia, systemic amyloidosis

Primary Systemic Amyloidosis Involving the Lacrimal Sac

Abstract: Dear Editor, Amyloidosis is a heterogeneous group of diseases characterized by extracellular amyloid deposits in different organs [1]. Deposition may occur secondary to a systemic disease or as primary amyloidosis in absence of a systemic disease. Periocular and orbital amyloidosis are rare, especially in the lacrimal apparatus. In South Korea, only 12 cases of amyloidosis have been reported, and these mainly concerned involvement of conjunctiva or cornea [2]. This is the first Korean report of a patient with systemic amyloidosis involving the lacrimal sac. An 81-year-old man was referred to our hospital with complaints of tearing in both eyes, tenderness, and swelling in the region overlying the right lacrimal sac. He had a hemato-oncological history of diffuse large B cell lymphoma of the left kidney and a recent history of amyloidosis of the stomach but no ophthalmic disease history. On physical examination, best-corrected visual acuity was 0.5 in the right eye and 0.4 in the left. There was mucoid reflux upon compression, and a soft mass was detected by palpation in the right lacrimal sac area. The tear meniscus was elevated, and impaired clearance of fluorescein dye was noted from the tear film in both eyes. The remainder of the ophthalmic examination was normal. Facial computed tomography revealed swelling of the right medial canthal area and dilatation of both lacrimal sacs with peripheral enhancement of fuzzy margins (Fig. 1A). The patient underwent endoscopic dacryocystorhinostomy in both lacrimal sacs. During the operation, a cheese-like yellowish mucoid substance was noted on the left lacrimal sac. A biopsy of the left lacrimal sac was performed, and we removed all of the yellowish material. Some days afterward, histological examination of the biopsy sample showed amorphous and eosinophilic substances by hematoxylin & eosin staining and orange-colored amyloid deposits by Congo red staining, the latter of which exhibited apple-green birefringence under a polarized light microscope (Fig. 1B-1D). All of these histological findings corresponded to amyloidosis; thus, a diagnosis of amyloidosis was made. Fig. 1 (A) Preoperative computed tomography shows swelling of right medial canthal area and dilatation of both lacrimal sacs with increased peripheral enhancement. (B) Hematoxylin and eosin staining showed eosinophilic amorphous material deposition in stroma ... The various forms of amyloidosis are described as localized or systemic, primary or secondary, or heredofamilial. Amyloid proteins can be derived from many sources, including immunoglobulin lambda or kappa light chains, protein AA, protein AP, some proteins of prealbumin origin, or transthyretin [3]. With respect to immunoperoxidase staining, two subunits are pertinent to the subject of orbital amyloidosis. Protein amyloid AA, derived from serum protein A, is associated with amyloidosis previously considered to have arisen secondary to chronic inflammatory or infectious disorders, such as tuberculosis, leprosy, rheumatoid arthritis, or osteomyelitis. The other protein, amyloid AL, consists of all or part of the immunoglobulin lambda or kappa light chain and is common to cases of primary amyloidosis, which usually occurs secondary to a benign, low-grade, light chain-producing monoclonal gammopathy and is associated with widespread organ deposition and dysfunction [4,5]. Serum electrophoresis in our patient did not show monoclonal gammopathy but rather an increased gamma fraction; thus, given the lack of a systemic chronic inflammatory and infectious disorder, primary systemic amyloidosis was diagnosed. Unfortunately, no further analysis was performed to define the amyloid type, which is a limitation of this case report. The modalities used to treat primary localized amyloidosis depend on disease location; for example, surgical debulking or combined surgical debulking with external beam radiation is used to treat orbital amyloidosis, liquid nitrogen cryotherapy to treat conjunctival amyloidosis, and some cases receive only observation [1]. Isolated orbital and adnexal amyloidosis are usually treated by surgical removal of the amyloid mass. However, local recurrence is not uncommon in such cases [4]. In our case, we did not microscopically confirm eradication of the amyloid substance during the operation. Thus, close observation is ongoing for amyloidosis recurrence. Surgical excision should be planned if the disease relapses. In summary, we report a case of lacrimal sac amyloidosis. To our knowledge, this is the first report on primary amyloidosis involving the lacrimal sac.

Urinary retinol binding protein is a potential biomarker for renal function in primary systemic amyloidosis: A retrospective study.

Abstract: Amyloid light-chain (AL) amyloidosisis or primary amyloidosis is a protein conformation disorder characterized by an amyloid deposition process in many vital organs including the heart, kidneys, lu...

A case report on and chronic calcific pancreatitis primary systemic amyloidosis with symptomatic gastric involvement

Abstract: Systemic amyloidosis is a disorder characterized by extracellular deposition ofamyloid in various organs and tissues including the gastrointestinal tract, kidney, heart, and liver. Gastric involvement occurs in 8–12% of patientswith only 1% being symptomatic. Histological involvement of gastrointestinal tract baring stomach is common but is often subclinical. Moreover pancreatic involvement is also rare. Herein we report a case of a 37-year old lady patient who presented with macroglossia, periorbital purpura, abdominal symptoms and on evaluation wasdiagnosedto be having systemic amyloidosis involving stomach and chronic calcific pancreatitis.

Primary Systemic Amyloidosis: A Case Report

Abstract: Primary systemic amyloidosis is a rare entity. We report a case of primary systemic primary amyloidosis, an elderly male presented with generalized weakness since 6 months. Clinical examination revealed typical waxy lesions in the periorbital area with macroglossia. Serum electrophoresis was normal, however, bone marrow examination showed increased plasma cell with a good number of both binucleated and immature plasma cells. Diagnosis was confirmed by skin biopsy using haemotoxylin & eosin staining and congo red staining. Polarised microscopy was not done because of unavailability. We present the myriad manifestations of this uncommon disease entity.

Cardiac AL Amyloidosis (RCD code: III-3A.2a)

Abstract: Primary systemic amyloidosis (AL amyloidosis) is the most common subtype of amyloidosis in developed countries Amyloid fibrils deposition results from an abnormal secondary structure of immunoglobulin light chains produced by a plasma cell clone The most common accompanying plasma cell dyscrasia is monoclonal gammopathy of undetermined significance, while multiple myeloma coexists in only 10–15% of patients The kidneys and the heart are the most frequently affected organs Patients usually present with concentric left ventricular concentric thickening displaying a restrictive filling pattern with well-preserved systolic function Clinical suspicion of AL amyloidosis should be raised in older adults and elderly patients with diastolic heart failure accompanied by heavy proteinuria, upon detection of thick-walled heart on echocardiography with low-voltage QRS on ECG (“red-flags” for amyloidosis”), in non-diabetic subjects with peripheral neuropathy or autonomic neuropathy, commonly with severe postural hypotension Classical clinical stigmata, ie periorbital purpura, macroglossia, carpal tunnel syndrome, are not frequent (10–20%) but can guide diagnosis In the presence of typical echocardiographic features recommended diagnostic steps include identification of monoclonal gammopathy (serum and urine immunofixation and serum free light-chain kappa to lambda ratio) and confirmation of amyloid deposition, preferentially in a non-cardiac tissue such as periumbilical fat or minor salivary glands Bone marrow biopsy, serum calcium assay and skeletal survey are mandatory to exclude multiple myeloma Prognosis is mainly dependent on cardiac involvement, being determined by cardiac biomarkers and the difference between involved and uninvolved light chains Intensive chemotherapy is the therapy of choice in intermediate-risk patients with AL amyloidosis An improved overall survival was reported in patients with a complete haematological response and an adequate cardiac response, especially a fall in circulating levels of B-type natriuretic peptides JRCD 2016; 2 (8): 245–253

Primary systemic amyloidosis: imaging interpretation of this complex multisystemic disease.

Abstract: This report highlights the diagnostic complexities involved in the case of a 63-year-old female who presented with a non-productive cough and shortness of breath on exertion. Initial chest radiograph demonstrated generalized abnormal interstitial lung markings with thickened peripheral septal lines. Further characterization was sought by CT scan of the chest, and given the possibility of lymphangitic carcinomatosis, a CT scan of the abdomen and pelvis was also performed. The CT scan findings revealed septal line thickening, abnormal omental soft tissue with calcified deposits and wall thickening of the stomach and proximal duodenum. A preliminary differential diagnosis of peritoneal carcinomatosis was made, but cancer markers were equivocal. A CT-guided biopsy of the "omental cake" was non-diagnostic, hence formal biopsy via laparoscopy was undertaken. While awaiting the results, the patient was readmitted with acute haematemesis. Gastric and duodenal biopsies from the endoscopic assessment were positive for Congo red stain and birefringent under polarizsed light, which was consistent with amyloidosis. Histology from the omental biopsies and additional haematological tests concurred. The patient was diagnosed with advanced systemic amyloid light-chain amyloidosis comprising diffuse pulmonary amyloidosis, calcified omental soft tissue deposits, and extensive soft tissue amyloid with cardiac and gastrointestinal involvement. We discuss the spectrum of differential diagnoses posed by the imaging findings and the difficulties faced in interpreting this complex case of systemic amyloidosis.

Periorbital Ecchymosis (Racoon Eyes): A Case of a Primary Systemic Amyloidosis

Abstract: Amyloidosis is a group disease which progresses with extracellular accumulation of fibrillary protein in beta conformation structure. It is categorized as localized amyloidosis when storage is limited to one organ (i.e. on skin) or systemic (generalized) amyloidosis when it occurs with several organ involvement. In this article, a primary systemic amyloidosis case diagnosed with skin lesions is presented with the purpose of reminding primary systemic amyloidosis in differential diagnosis of periorbital ecchymosis and reviewing the findings of primary systemic amyloidosis which is a rarely seen disease in dermatology practice.

A Case of Primary Systemic Amyloidosis and Type 2 Diabetes Presenting with Nephrotic Syndrome and Recurrent Periorbital Purpura.

Abstract: The clinical manifestations of primary systemic amyloidosis with the involvement of a variety of organs, such as the kidney, heart, peripheral nervous system, liver, and so forth, are varied, complicated and nonspecific. The mucocutaneous manifestations, sometimes as the symptom in the early stages of disease, may provide an important clue for the diagnostic suspicion. Here we described a case of primary systemic amyloidosis with the history of Type 2 diabetes mellitus (T2DM) for nine years who had recurrent periorbital purpura in the initial stage, followed by nephrotic syndrome. The diagnosis was primary systemic amyloidosis finally determined by electron microscopy of renal pathology.