Primary Localized Amyloidosis Research Articles

Amyloidosis of the upper aerodigestive tract.

To delineate the clinical and pathologic characteristics of upper aerodigestive tract amyloidosis with particular attention to laryngeal amyloidosis. Retrospective chart review of patients with amyloidosis of Thomas Jefferson University and its affiliated hospitals. The charts of 16 patients with upper aerodigestive tract amyloidosis identified from the databases of the Thomas Jefferson University pathology department were reviewed and included in the study. Sixteen patients (9 male and 7 female, with an average age of 49.8 years) with upper aerodigestive tract amyloidosis were identified. The most common site of amyloid involvement was the larynx. Consequently, patients most commonly presented with hoarseness (14 of 16). All patients underwent surgical removal of the amyloid deposits. Fourteen patients had primary localized amyloidosis. Two experienced systemic involvement. Seven of the 16 patients developed recurrences requiring further treatment. Amyloidosis of the upper aerodigestive tract generally behaves as a benign, localized condition treatable by surgical resection. Regular follow-up with laryngoscopy is indicated for early diagnosis of recurrence, and multiple surgical procedures may be required to control symptoms.

Endoscopic management of laryngo-tracheobronchial amyloidosis: a series of 32 patients.

Between June 1983 and December 2002, 32 patients were treated for primary localized laryngo-tracheobronchial amyloidosis (LTBA) at our institution. For enrollment in this retrospective study, at least one positive biopsy with Congo red stain and a diagnostic test battery excluding systemic or secondary amyloidosis were mandatory. The most common presenting symptom was dyspnea, which was observed in 75% of cases. Endoscopic appearance was described as submucosal plaques and nodules with a cobblestone appearance in 44% of patients, tumor-like in 28% and circumferential wall thickening in 28% of cases. Tracheobronchopatia osteochondroplastica was associated with LTBA in 22% of patients, both at the first treatment (four cases) or during follow-up examinations (three). Synchronous or metachronous disease in the larynx and tracheobronchial tree was observed in 47% of cases, while only one patient showed lung involvement with extensive amyloidosis of the trachea and bronchi. All but two patients were endoscopically treated. One of these was affected by a tracheal amyloidoma cured by endoscopic debulking and further tracheal resection-anastomosis. The other patient presented massive laryngo-pharyngeal involvement and was therefore treated by total laryngectomy. A total of 58 endoscopic procedures (range: 1-7; mean: two per patient) were carried out, 11 with CO2 laser (for supraglottic, glottic and selected subglottic lesions) and 47 with Nd:YAG laser (for the most part of subglottic lesions and amyloid deposits located in trachea and bronchi). Four patients required a tracheotomy and three necessitated a T-tube stent during management, which was subsequently removed in all cases. One patient was lost to follow-up, nine were endoscopically controlled elsewhere (Group A) and 22 were followed at our institution (Group B). In Group A, the patient with tracheal amyloidoma is asymptomatic and free of additional LTBA localizations 8 years after surgery. The remaining eight are asymptomatic, but with persistent endoscopic signs of amyloidosis. In Group B, five patients died: one from heart failure and another one from pneumonia 3 and 4 days after surgery, respectively. In one case death was from unrelated causes, and in the two remaining patients it was from respiratory failure due to uncontrolled bilateral bronchial amyloidosis in the subsequent 5 to 6 years. One patient is completely cured 5 years after surgery, and 16 are asymptomatic with persistence of LTBA.

Primary localized amyloidosis of the urinary bladder

Primary localized amyloidosis of the urinary bladder

Primary Localized Amyloidosis of the Angle of Mouth: Report of a case.

A case of primary localized amyloidosis of the angle of mouth is reported. The patient was a 64-year-old woman, and physical examination revealed a lesion about the size of a grain of rice on the left angle of mouth. Diagnosis was made by histopathologic study of surgical specimen. Immunohistochemical study of the infiltrated plasma cells suggested that the origin of amyloid protein to be amyloid L protein. Systemic amyloidosis was ruled out based on clinical and laboratory examination. At follow up 15 months later, no recurrence was observed and no symptoms were present.

Primary localized amyloidosis of the ureter with osseous metaplasia

Primary localized amyloidosis of the ureter with osseous metaplasia

Pediatric localized amyloidosis in mesopharynx

Primary localized amyloidosis of the mesopharynx is rare. We present the case of a 12-year-old girl; as far as we are aware, our case is the third pediatric case in the English literature. Her chief complaint was a pharyngeal mass identified by the health examination at primary school. Physical examination revealed a mass in the faucial tonsil. Histologically, the lesion was composed of deposition of amyloid and chronic inflammatory cell infiltration. Immunohistochemical studies showed that the lesion was positive for amyloid P component (AP) and negative for amyloid L (AL). No treatments were applied, because she had no symptoms. During the observation period of 24 months, the mesopharyngeal mass showed no remarkable change.

Primary Localized Amyloidosis of The bladder:: Experience With Dimethyl Sulfoxide Therapy

We present our long-term experience with intravesical dimethyl sulfoxide (DMSO) for primary localized amyloidosis of the bladder. The study included 4 males and 2 females 28 to 68 years old (mean age 54) at diagnosis of biopsy proven primary localized amyloidosis involving the bladder diffusely or extensively in 1 locale. All patients had normal upper urinary tracts. They continued to be symptomatic (hematuria in 3, irritative voiding symptoms in 1, and hematuria and irritative voiding symptoms in 2) despite conventional transurethral destructive therapy. Every 2 weeks they received 30-minute instillations of 50 ml. 50% DMSO intravesically for 3 months (patient 1), 6 months (1) and 1 year (4). Therapy failed at 3 and 6 months in 2 patients of whom 1 with a contracted bladder underwent cystectomy and another was stabilized for 1 year with laser therapy. In the remaining 4 patients who were followed for 6 years disease stabilized for 2 to 6 years (mean 3.5) but 3 later required additional therapy including repeat DMSO in 1 and laser therapy in 2. Diffuse or locally extensive bladder involvement by primary localized amyloidosis usually fails to respond to conventional transurethral destructive surgical procedures. Collectively, our experience and the literature suggest that intravesical DMSO can be a bladder saving measure and help resolve ureterovesical obstruction in some patients. High recurrence rate mandates lifelong cystoscopic surveillance.

Nodular localized primary cutaneous amyloidosis: reply from authors

Nodular localized primary cutaneous amyloidosis: reply from authors

A rare case of painless gross hematuria: primary localized AA-type amyloidosis of the urinary bladder

A 60-year-old Asian woman presented with a 1-year history of painless gross hematuria. She had no prior urologic history and no other medical problems. Her physical examination, urine cytology, and computed tomography scan were normal. Cystoscopy demonstrated several punctate areas of erythema within the bladder. Biopsies revealed amyloidosis, and immunohistochemical staining of the specimens defined the process as amyloid AA (often called secondary amyloidosis). The workup for systemic conditions associated with amyloid AA was negative. This represents an unusual case of primary localized AA-type amyloidosis of the bladder.

Primary localized amyloidosis of urinary bladder : A case report

Primary localized amyloidosis of urinary bladder : A case report

Primary localized amyloidosis of the ureter

Primary amyloidosis is a rare condition that can involve the urinary tract. These lesions can occur anywhere in the collecting system and are often mistaken clinically for malignancies. We report a case of localized ureteral amyloidosis. Our treatment consisted of a conservative approach with local resection.

Primary Localized Amyloidosis of the Urinary Bladder: A Case Series of 31 Patients

To evaluate the presentation and prognosis of primary localized amyloidosis of the urinary bladder. The medical records of 31 patients with primary localized amyloidosis of the urinary bladder were reviewed. Immunohistochemical amyloid typing was performed on bladder biopsy specimens from 27 patients. The median age of the 22 men and 9 women was 55 years. Twenty-four patients (77%) presented with gross hematuria (associated with irritative urinary tract symptoms in 6 patients), and 7 (23%) had only irritative lower urinary tract symptoms. Multiple bladder areas were involved in 20 patients (65%), a single area was involved in 8 (26%), and diffuse involvement was present in 3 (10%). Twenty-four patients had immunoglobulin light chain, and 3 had transthyretin-related amyloid. Local recurrences were common. None of the patients developed systemic amyloidosis. Primary localized amyloidosis of the urinary bladder can be easily confused with a neoplasm. Immunohistochemical amyloid typing is important. Transthyretin-related amyloid of the bladder requires no further work-up. Repeated work-ups for systemic amyloidosis are unnecessary for patients with light chain-related amyloidosis of the urinary bladder. Early eradication with fulguration or laser therapy is indicated. Cystoscopic follow-up is necessary.

Primary localized conjunctival amyloidosis presenting with recurrence of subconjunctival hemorrhage

PURPOSE: To report the ocular presentation and histopathology of a patient with primary localized conjunctival amyloidosis. METHODS: A 38-year-old woman presented with a recurrence of episodes of severe bilateral subconjunctival hemorrhage. Ocular examination revealed yellowish, marked folding and redundancy of the conjunctiva in the inferior cul-de-sac of each eye. RESULTS: After two initial conjunctival biopsies that showed only chronic inflammation, a third biopsy revealed the presence of amyloid in the substantia propria of the conjunctiva. CONCLUSION: Primary localized conjunctival amyloidosis is rare and usually diagnosed histologically instead of clinically. Recurrence of subconjunctival hemorrhage may be the initial presentation. Evaluation for systemic diseases is advised, though the results of the examination are almost always negative.

Monoclonality of infiltrating plasma cells in primary pulmonary nodular amyloidosis: detection with polymerase chain reaction.

AIMS: To investigate the relation between localised amyloidosis and immunocytic dyscrasia. METHODS: Open lung biopsy specimens from a 72 year old man with multiple nodules in the right middle and...

Localized Amyloidosis of the Lower Respiratory Tract

A rare case of localized amyloidosis of the lower respiratory tract in a 54-year-old Japanese man is presented. This patient consulted a physician with chief complaints of cough, sputum, and fever in May 1995. His symptoms were alleviated temporarily by antibiotic administration but recurred frequently. He was then referred to our outpatient department for further evaluation. Chest computed tomography revealed an irregular thickening of the bronchial wall and a narrowing of the bronchial lumen from the trachea to the bilateral main bronchus. Bronchoscopy showed multiple coalesced nodules from the trachea to the bilateral segmental bronchus. The nodular lesions tended to bleed easily and the wall appeared irregular and narrowed. Amyloid protein was detected in a bronchial biopsy. No lesions were detected in other organs. Based on these findings, primary localized amyloidosis of the lower respiratory tract—a rare condition—was diagnosed.

Primary Localised Amyloidosis of the Orbit

AIMS/BACKGROUND: Primary localised amyloidosis is rarely encountered in the orbit. The typical clinical and radiological appearances have not been clearly established, in particular the single site deposition of amyloid has never been proved. METHODS: Six cases were reviewed in detail and their clinical and radiological characteristics are described here. Four patients had scintigraphy with 123I serum amyloid P component and one patient had typing of the amyloid fibrils. RESULTS: All the patients had a firm mass in the upper orbit with a predilection for the region of the lacrimal gland. Computed tomography showed a homogeneous mass with thickening and irregularity of the adjacent bone and/or calcification within the mass. None was associated with systemic disease. Scintigraphy with 123I serum amyloid P component demonstrated that the amyloid was confined to the orbit. In one patient the amyloid fibrils were derived from an IgG4 heavy chain constant domain. The lesions were partially excised with subsequent clinical stability over 6 months to 18 years in all but one patient who had continued enlargement of the lesion. CONCLUSION: There is a characteristic clinical and radiological pattern for primary localised amyloidosis of the orbit. The disease process is truly local and not part of a systemic process. A majority respond to simple debulking with subsequent observation.

Primary Localized Nodular Tongue Amyloidosis Associated with Sjögren’s Syndrome

We describe a case of primary localized nodular tongue amyloidosis associated with Sjögren's syndrome in a 62-year-old woman. The presence of Sjögren's syndrome was confirmed both serologically and histologically. The amyloid tumor, which was marginally excised, recurred 3 years later and was re-excised. Immunohistochemical examination revealed that the amyloid protein was of the AL (lambda-light chain) type. Infiltration of plasma cells was observed around the minor salivary glands of the tongue surrounded by amyloid. The relationship between the plasma cells and amyloid deposition is discussed.

Primary localised amyloidosis of the orbit.

Primary localised amyloidosis is rarely encountered in the orbit. The typical clinical and radiological appearances have not been clearly established, in particular the single site deposition of amyloid has never been proved. Six cases were reviewed in detail and their clinical and radiological characteristics are described here. Four patients had scintigraphy with 123I serum amyloid P component and one patient had typing of the amyloid fibrils. All the patients had a firm mass in the upper orbit with a predilection for the region of the lacrimal gland. Computed tomography showed a homogeneous mass with thickening and irregularity of the adjacent bone and/or calcification within the mass. None was associated with systemic disease. Scintigraphy with 123I serum amyloid P component demonstrated that the amyloid was confined to the orbit. In one patient the amyloid fibrils were derived from an IgG4 heavy chain constant domain. The lesions were partially excised with subsequent clinical stability over 6 months to 18 years in all but one patient who had continued enlargement of the lesion. There is a characteristic clinical and radiological pattern for primary localised amyloidosis of the orbit. The disease process is truly local and not part of a systemic process. A majority respond to simple debulking with subsequent observation.

Monoclonal origin of localised orbital amyloidosis detected by molecular analysis.

Primary localised orbital amyloidosis is a rare disease. The purpose of this study was to describe two cases of primary orbital amyloidosis and emphasise the value of molecular analysis of immunoglobulin gene rearrangement in identifying a monoclonal population of cells responsible for the amyloid production. Charts and biopsy specimens of each case were reviewed. Conventional light microscopy, immunohistochemistry, and polymerase chain reaction (PCR) analysis for immunoglobulin gene rearrangement were performed in both cases. An unusual presentation of localised primary amyloidosis with bilateral and extensive enlargement of multiple extraocular muscles was seen in case 1. The presence of amyloid deposits was confirmed by biopsy in both cases. Evidence of a monoclonal population of plasma cells was shown by immunohistochemical analysis in case 2 only. The monoclonal origin of the cells responsible for the amyloid deposition was determined by PCR analysis demonstrating immunoglobulin heavy chain gene rearrangement in both cases. A monoclonal population of plasma cells responsible for the amyloid deposition was present in these two cases. PCR analysis is extremely helpful in determining monoclonality, a finding that may have important therapeutic and prognostic implications.

Nodular localized cutaneous amyloidosis: detection of monoclonality of infiltrating plasma cells by polymerase chain reaction

We report nodular localized cutaneous amyloidosis arising in a 74-year-old woman as a single nodule at the left angle of the mouth. Histological examination revealed eosinophilic material deposited in the dermis, identified as amyloid by staining with Dylon stain, and antiamyloid P component, and by electron microscopy. The amyloid material was further determined immunohistochemically to be of AL fibril protein type derived from lambda light chains. Infiltrating plasma cells, around blood vessels in the dermis, stained monotypically with anti-lambda antibody, suggesting plasma cell monoclonality. Semi-nested polymerase chain reaction (PCR), for rearrangement of immunoglobulin heavy chain gene using paraffin-embedded sections, yielded two distinct amplified bands, indicating monoclonality of the infiltrating plasma cells. These findings support the hypothesis that primary localized nodular amyloidosis involves local accumulation of monoclonal plasma cells and their secreted products. The two amplified bands observed on PCR may, in the present case, reflect abnormal secretion of immunoglobulin light chains.