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PubMed1993

Labial salivary gland biopsy is a reliable test for the diagnosis of primary and secondary amyloidosis. A prospective clinical and immunohistologic study in 59 patients.

OBJECTIVE: Reports of the detection of amyloidosis by labial salivary gland (LSG) biopsy have been mostly anecdotal. The aim of this study was to assess the value of this method in the diagnosis of amyloidosis. METHODS: LSG biopsy tissues were studied with a combination method using Congo red stain and immunohistologic characterization using an antibody directed against the serum amyloid P (SAP) component. Electron microscopy was performed in all cases. In a prospective study, we evaluated 30 patients with biopsy-proven AA or AL amyloidosis. We compared these patients with a control group of 29 age-matched patients without clinical or biologic evidence of amyloid disease (14 had rheumatoid arthritis and 15 had plasma cell dyscrasia). RESULTS: In 26 of the 30 patients with known systemic amyloidosis, amyloid deposits were identified on LSG biopsy (sensitivity of 86%). In 1 of the remaining patients, amyloid deposits were identified on LSG biopsy and systemic amyloidosis was confirmed by abdominal fat biopsy and 123I-labeled SAP scintigraphy. CONCLUSION: This study emphasizes the high sensitivity of LSG biopsy in the diagnosis of amyloidosis, even in the absence of oral symptoms.

Adult↗
PubMed2004

Unsuspected systemic amyloidosis diagnosed by fine-needle aspiration of the salivary gland: case report.

Amyloidosis of the head and neck region may represent a local amyloidoma or a manifestation of systemic disease. Involvement of major salivary glands by either primary or secondary forms of amyloidosis is very rare. We describe a case of systemic amyloidosis that initially presented as submandibular gland mass and was diagnosed by fine-needle aspiration (FNA). A 69-year-old male presented with submandibular mass. His past medical history was significant for left forearm melanoma that was excised 6 years ago and tricuspid valve endocarditis after valvular replacement 3 months prior to FNA of the submandibular gland. The patient had no symptoms or clinical and laboratory data suggestive of amyloidosis. FNA specimen showed salivary gland tissue and abundant amorphous material, which stained positive for amyloid with Congo red stain and showed typical birefringence when examined by polarized microscopy. Further workup of the patient revealed generalized amyloidosis with multiorgan involvement by the disease. This case demonstrates that FNA can be a useful technique in the diagnosis of unsuspected amyloidosis.

Aged↗
PubMed1997

Alpha 2-macroglobulin protects some of the protein constituents of dialysis-associated amyloidosis from protease degradation.

A crucial point to know in the prevention and treatment of beta 2-microglobulin (beta 2-m) amyloidosis is the putative resorption of amyloid fibrils in vivo. Although still controversial, long term clinical studies suggest that there is no resorption of amyloid fibrils in vivo, even after the suppression of the primary cause of amyloidosis. Two in vitro studies on murine and human AA amyloidosis as well as Alzheimer's disease suggest that protein constituents of amyloid fibrils may be resorbed. Protein resorption can be inhibited by the antiprotease amyloid P component. We extended these in vitro studies on beta 2-m amyloidosis, and assessed the effect of alpha 2-macroglobulin (alpha 2-M), a serum antiprotease previously found in this type of amyloidosis, on the putative protease induced protein resorption. Here, we show that amyloid proteins, beta 2-m and light chains of immunoglobulins, were degraded by trypsin. Preincubation of the amyloid proteins with alpha 2-M significantly inhibited the trypsin induced protein degradation of lambda chains. These data add further support to the hypothesis proposing a role for alpha 2-M and other antiproteases in the formation and/or persistence of beta 2-m amyloidosis.

Amyloid↗
PubMed1993

Iodine-123-labelled serum amyloid P component scintigraphy in amyloidosis.

This study describes the results of scintigraphy with iodine-123-labelled serum amyloid P component (SAP) as a means of establishing the distribution of organ involvement in amyloidosis. The significance of 123I-SAP scans obtained in 15 patients with biopsy-proven AA or AL amyloidosis is discussed. Biopsy-proven amyloidosis was typically confirmed by scintigraphy, though such confirmation was not obtained in the kidneys in six patients with histological proof of extensive renal amyloid deposition. This lack of uptake may have been due to the accumulation of a major part of the 123I-SAP in the spleen and/or liver. Twenty-four hour whole-body retention of 123I-SAP was higher in patients with amyloidosis than in controls. Twenty-four hour tracer accumulation of the radioactivity in the extravascular compartment was notably greater in patients than in controls and appeared to be a good diagnostic criterion. We conclude that 123I-SAP scintigraphy may be helpful for the evaluation of organ involvement not only in patients with biopsy-proven amyloidosis but also when a biopsy cannot be performed or when a strong suspicion of amyloidosis exists in spite of repeated negative biopsies.

Amyloidosis↗
PubMed2001

Nodular amyloidosis: case report and literature review.

BACKGROUND: Amyloidosis refers to a group of depositional diseases that are classified into two main types: systemic and localized. Large nodules of localized cutaneous amyloidosis of the nasal ala and surrounding skin are rare and the treatment is often unsatisfactory. OBJECTIVE: We report a case of rapidly enlarging, localized, nodular cutaneous amyloidosis of the nose and the surrounding skin with a brief review of the current literature regarding treatment of this rare disease. CONCLUSION: Nodular amyloidosis can be treated successfully with cold steel excision in combination with carbon dioxide laser. Close followup of these patients is warranted, as nodular amyloidosis may be the precursor to systemic amyloidosis.

Aged↗
PubMed2005

Splenic hypoperfusion as a sign of systemic amyloidosis.

BACKGROUND: The spleen is frequently involved in systemic amyloidosis; however, the computed tomographic (CT) or magnetic resonance (MR) pattern of splenic amyloidosis is not sufficiently described in the literature. This study evaluated the contrast-enhanced CT and MR findings of the spleen in patients with systemic amyloidosis. METHODS: Data were extracted by reviewing pathology and radiology department records of the teaching hospital of Naples over 10 years, from 1 January 1993 to 31 December 2002. Thirty-three patients with amyloidosis were identified, 10 of whom had a CT scan and two of whom had an MR study. The population-based study was composed of 12 patients with histologically proved amyloidosis who underwent contrast-enhanced CT or MR scan of the abdomen. The spleen and liver were evaluated for organ size and perfusion. RESULTS: The spleen was hypoperfused in nine of 12 patients. Mild splenomegaly was present in only one case. Hepatomegaly was associated with markedly acute left lobe margin in nine patients and with rounded anterior profile of segments 3 and 4 in four patients. Moreover, a large area of low attenuation with indefinite geographic margins involving the right hepatic lobe was observed in three patients. CONCLUSION: The finding of splenic hypoperfusion may be a marker of systemic amyloidosis, which represents a useful clue when clinical findings fail to suggest the proper diagnosis.

Adult↗
PubMed2005

Very long term studies of the seeding of beta-amyloidosis in primates.

Cerebral beta-amyloidosis was found in 16/18 marmosets aged <10 yrs and 8/9 marmosets aged >10 yrs, injected intracerebrally with human or marmoset brain homogenate containing beta-amyloid 1-8 years previously. It was found in only 2/12 marmosets aged <10 yrs and 1/15 marmosets aged >10 yrs, injected with synthetic Abeta-peptides, CSF, or brain tissue which did not contain beta-amyloid. Cerebral beta-amyloidosis was found in 0/11 uninjected marmosets aged <10 yrs and in 5/29 uninjected marmosets aged >10 yrs. The beta-amyloidosis comprised small and large vessel angiopathy and some plaques throughout cortex and was qualitatively similar in injected marmosets and, when present, in uninjected marmosets. Of those injected marmosets which were positive, the amount of beta-amyloidosis was unrelated to age or incubation times but the 3 injected marmosets without beta-amyloidosis had incubation times of <3.5 years. We conclude that beta-amyloid, or associated factors, can initiate or accelerate the process of cerebral amyloidosis in primates.

Adult↗
PubMed2006

Amyloidosis.

Amyloidosis is a disease in which abnormal proteins form fibrillar tissue deposits that can compromise key viscera and lead to early death. In order to treat amyloidosis, the type of abnormal protein must be identified. The most common type is monoclonal immunoglobulin light chain or AL amyloidosis; the other important type is hereditary, caused by variant forms of transthyretin and other proteins, whereas amyloid associated with chronic inflammation ("secondary") is rare in the developed world. AL can be misdiagnosed if a monoclonal gammopathy and a hereditary variant are present in the same patient. The aim of therapy in systemic AL amyloidosis is to reduce the amyloid-forming monoclonal light chain, measured with the serum free light chain assay, by suppressing the underlying plasma cell dyscrasia, while using supportive measures to sustain organ function. Amyloid deposits can be resorbed and organ function restored if the amyloid-forming precursor light chain is eliminated. The most effective treatment for systemic AL amyloidosis is risk-adapted melphalan with peripheral blood stem cell transplant (SCT). The hematologic response rate is 75% at 12 months when adjuvant therapy with thalidomide and dexamethasone is used post-SCT. Patients can achieve long-term durable remissions with organ recovery. Drugs effective in multiple myeloma are usually helpful in AL amyloidosis if tolerated. The use of novel antibody-based approaches for imaging amyloid and possibly for accelerating removal of deposits is under active investigation.

Amyloidosis↗
PubMed1986

Tissue distribution of amyloid deposits in Abyssinian cats with familial amyloidosis.

The tissue distribution of amyloid deposits was studied in 15 related Abyssinian cats with familial amyloidosis. There was interstitial medullary amyloidosis in the kidneys of all 15 cats but only 11 had detectable glomerular involvement. The thyroid glands, stomach and colon were affected in all cats examined. Most of the cats also had amyloid deposits in the small intestine, spleen, heart, adrenals, pancreas, liver, lymph nodes and bladder. In 50 per cent or fewer of the cats examined, there was involvement of the parathyroids, lung and gonads. The central nervous system was not involved in any of the 3 cats evaluated. In 8 of the cats, no concurrent inflammatory disease could be detected. The tissue distribution of amyloid deposits resembled that found in other breeds of domestic cats with systemic amyloidosis. Despite the wide tissue distribution of amyloid deposits, clinical signs were related to renal amyloidosis. Familial amyloidosis in the Abyssinian cat may represent a valuable spontaneous animal model for the study of Familial Mediterranean Fever in man and the pathogenesis of reactive amyloidosis in general.

Amyloid↗
PubMed1995

Hepatic amyloidosis in Japan: histological and morphometric analysis based on amyloid proteins.

To investigate the relationship between the tissue distribution and the types of amyloid proteins, the detailed histopathologic features of the available liver in 284 cases of amyloidosis were examined. We classified hepatic amyloidosis into three types, namely, the vascular pattern, parenchymal pattern, and stromal pattern according to the topographic distribution pattern of amyloid. Of the 152 amyloid A (AA) cases, all but one exhibited the vascular pattern; the single exception had the parenchymal pattern. Among 117 amyloid light chain (AL) cases, 51.3% exhibited the vascular pattern and 43.6% the parenchymal pattern. The stromal pattern was observed in 5.1% of the cases but was found only in AL amyloidosis. The parenchymal and stromal patterns in the liver seemed to be characteristic morphological distributions of AL amyloidosis. Routine histochemical study is useful to distinguish AL from AA, although some ethnic differences were apparent. Morphometric results showed that the walls of the hepatic arteries with amyloid deposition were significantly thicker than walls in arteries from the control group. The arterial walls in AA amyloidosis, especially, were significantly thicker than walls in AL amyloidosis of any pattern.

Amyloid↗
PubMed1996

Doppler index combining systolic and diastolic myocardial performance: clinical value in cardiac amyloidosis.

OBJECTIVES: This study was designed to determine the clinical value of a Doppler-derived index of combined systolic and diastolic myocardial performance in the assessment of cardiac amyloidosis. BACKGROUND: Cardiac amyloidosis is an infiltrative disease with diastolic and systolic dysfunction. Therefore, the index of myocardial performance combining systolic and diastolic time intervals could be a useful predictor of clinical outcome in cardiac amyloidosis. METHODS: The study included 45 patients with biopsy-proved amyloidosis and 45 age-matched normal subjects. All patients had typical echocardiographic features of amyloid cardiac involvement. A Doppler-derived index, defined as the sum of isovolumetric contraction time and isovolumetric relaxation time divided by ejection time, was measured from left ventricular outflow and mitral inflow Doppler velocity profiles recorded during routine echocardiography. The index as well as conventional systolic or diastolic echocardiographic/Doppler variables were related to subsequent outcome. RESULTS: The isovolumetric contraction and relaxation times were prolonged and ejection time was shortened (p < 0.001) in patients with amyloidosis compared with that in normal subjects, resulting in a marked increase of the index from normal values (p < 0.001). In the amyloid group the index was highest in patients with a low stroke index or with both shortened mitral deceleration time and lower ejection fraction. By univariate analysis, New York Heart Association functional class, the index, ejection fraction and mitral deceleration time were significant predictors of outcome. However, by multivariate stepwise regression analysis, functional class and the index were the only independent predictors of survival. CONCLUSIONS: The Doppler-derived index of combined systolic and diastolic myocardial performance correlates with global cardiac dysfunction and is a useful predictor of clinical outcome in patients with cardiac amyloidosis.

Adult↗
PubMed2004

Eyelid bleeding and atypical amyloidosis.

PURPOSE: To describe a case of atypical systemic amyloidosis in a patient who presented with recurrent subcutaneous bleeding of the eyelids and auricles. DESIGN: Observational case report. METHODS: A 52-year-old man with chronic cardiac failure, hypertension, weight loss, and impotence presented with recurrent bleeding of the eyelids and auricles, and was investigated for suspected amyloidosis. RESULTS: Biopsy specimens taken from the bone marrow, salivary gland, abdominal subcutaneous fat, and gastric mucosa, and eyelids were all negative for Congo red. Results of a conjunctival biopsy, which were returned after the patient's death, and cardiac muscle autopsy were positive for Congo red staining, indicating amyloidosis. CONCLUSION: The findings in this case show that the presentation of amyloidosis may be atypical. Ophthalmologists should consider a diagnosis of amyloidosis in patients with periorbital bleeding, even if biopsies are negative for Congo red. A conjunctival biopsy may be useful in establishing a diagnosis of primary systemic amyloidosis.

Amyloidosis↗
PubMed2006

Head and neck amyloidosis: a clinicopathologic study of 15 cases.

Amyloidosis refers to the idiopathic, extracellular deposition of fibrillar proteins, termed amyloid, in tissues. Although amyloidosis is a rare disease, the head and neck region has been reported as a frequent site of amyloid deposits, accounting for approximately 19% of reported amyloid cases in one review. Fifteen cases of head and neck amyloid, excluding the brain, with clinical follow-up were identified in the Surgical Pathology files from 1985 to 2005 at Emory University Hospital. The histopathology, histochemistry, and patient follow-up were reviewed. Nine men and six women with an age range of 18-76 years (mean 55.7 years) were identified. The initial clinical presentation was dependent on the site of amyloid deposits. The clinical types of amyloidosis included localized amyloid deposits in the larynx and tongue, plasma cell dyscrasia associated AL amyloidosis, and hemodialysis-associated amyloidosis. Secondary amyloidosis developed in one patient with carcinoid tumor.

Adolescent↗
PubMedDate not supplied

Conjunctival amyloidosis: report of six cases and review of the literature.

Conjunctival amyloidosis is an uncommon condition that occasionally is associated with systemic involvement. The clinical presentations of conjunctival amyloidosis are diverse. We present six patients with conjunctival amyloidosis who were referred to us with the suspicion of another conjunctival lesion. The conjunctival lesion was circumscribed in two patients and diffuse in four patients. The lesion color was yellow in one patient and yellow-pink in five patients. The associated features were intrinsic vascularization (six patients), recurrent subconjunctival hemorrhage (four patients) and blepharoptosis that involved the palpebral conjunctiva (two patients). Systemic evaluation revealed primary systemic amyloidosis in one patient and no related systemic abnormalities in five patients. Management consisted of complete excisional biopsy for the two circumscribed lesions and incisional biopsy for the four diffuse lesions. Two patients with diffuse involvement showed progressive involvement of the conjunctiva over 3 years following incisional biopsy and the other four patients remained stable. Additionally, there was no systemic involvement in five patients. In conclusion, conjunctival amyloidosis generally manifests as a yellowish-pink, hemorrhagic mass deep to the epithelium. Most patients show no evidence of systemic amyloidosis.

Aged↗
PubMed2004

Long-term outcome of renal transplantation in patients with familial Mediterranean fever amyloidosis: a single-center experience.

Although recurrence of amyloid A deposition in the allograft can be seen in patients with secondary amyloidosis due to familial Mediterranean fever (FMF), renal transplantation remains to be a choice of treatment for end-stage renal disease. The aim of this study was to determine short- and long-term results of renal transplantation in patients with FMF amyloidosis. We compared the outcomes of 17 patients with FMF amyloidosis among 431 (3.9%) transplants with 209 control patients. We observed 93% and 94% graft and patient survivals at 1 year, and 89% and 90% at 5 years. Also, the mean serum creatinine levels at 1 and 5 years posttransplant were similar. Recurrence of amyloidosis was documented in two allograft recipients presenting with nephrotic range proteinuria (12%), one of whom lost the allograft due to recurrence. Eleven patients had FMF gene analysis. The results of MEFV mutation analyses were: M694V/M694V homozygote in six patients, M694V/EQ148 in one patient, M694V/V726A in one patient, 680M-I/E148Q in one patient. FMF gene analysis was negative in two patients. Recurrence was noticed in one patient with M694V/M694V, while the other did not have an FMF gene analysis. Colchicine was reduced in nine patients due to side effects. In conclusion, the long-term outcomes of transplantation in patients with amyloidosis secondary to FMF is similar to that in the general transplant population and maintenance colchicine, even at low dose, appears to effectively prevent recurrence of amyloidosis in the allograft.

Adult↗
PubMed2006

[Amyloidosis in the ORL field].

OBJECTIVES: To review the clinical and pathological characteristics of upper aerodigestive tract amyloidosis with particular attention to laryngeal amyloidosis. Amyloidosis of the upper aerodigestive tract is relatively rare. The larynx is the most common site of involvement in head and neck isolated amyloidosis and the supraglottic region represents the major site of involvement. MATERIAL AND METHODS: Retrospective review of 6 patients diagnosed with upper aerodigestive tract amyloidosis. Hoarseness and airway compromise were the main presenting symptoms. RESULTS: Laryngeal CO2 laser microsurgery was performed and then we refered the patients to the Medical Deparment seeking for systemic involvement and ENT Clinic follow up. CONCLUSIONS: In our experience, laryngeal CO2 laser microsurgery is a succesfull way to treat isolated laryngeal amyloidosis with clinical improvement and low recurrence rates.

Adult↗
PubMed1998

Contribution of magnetic resonance imaging in the differential diagnosis of cardiac amyloidosis and symmetric hypertrophic cardiomyopathy.

BACKGROUND: Magnetic resonance imaging (MRI) provides a high-resolution study of atrial and ventricular myocardium depicting morphologic alterations in cardiomyopathies. Furthermore, in systemic amyloidosis, MRI demonstrates the capability to detect amyloid protein by tissue characterization. The aim of this study was to evaluate the potential of MRI in the diagnosis of cardiac amyloidosis. METHODS: MRI was performed in 16 patients with cardiac amyloidosis and in 10 patients with symmetric hypertrophic cardiomyopathy. Myocardial ventricular and atrial thickness (septum, posterior, and lateral wall), right and left ventricular diastolic diameter, and atrial surface were compared. Ventricular myocardium signal intensity was then evaluated by sequences with an echo time (TE) of 20 and 60 ms as the expression of myocardial texture modification. RESULTS: Significant morphologic differences between cardiac amyloidosis and hypertrophic cardiomyopathy were found in the right atrium surface (21.9 vs 17.2 cm2, respectively; P = .05), myocardial thickness of right atrial wall (9.3 vs 4.9 mm; P < .0001 ), and right ventricular free wall (10.6 vs 8.9 mm; P = .011 ). No significant differences were found in the interventricular septum (16.6 vs 17.8 mm), left ventricular posterior wall (18.2 vs 18.8 mm), and left atrial surface (17.4 vs 17.2 cm2). The signal intensity of cardiac amyloidosis was significantly lower with both TE 20 and TE 60 in comparison with hypertrophic cardiomyopathy and to a group of healthy volunteers. CONCLUSIONS: MRI has a potential role in the noninvasive diagnosis of cardiac amyloidosis identifying typical morphologic markers and suggesting the presence of infiltrative disease by tissue characterization.

Adult↗
PubMed2002

Stem cell transplantation for the management of primary systemic amyloidosis.

PURPOSE: To review the characteristics and outcomes of amyloidosis patients treated with high-dose chemotherapy and stem cell reconstitution. SUBJECTS AND METHODS: Sixty-six patients with biopsy-proven amyloidosis received transplants between March 1996 and January 2001. All patients had evidence of a clonal plasma cell dyscrasia; those with nonimmunoglobulin forms of amyloidosis were excluded, as were those who had no symptoms of amyloidosis, purpura, carpal tunnel syndrome, or symptomatic multiple myeloma. RESULTS: Amyloid was seen clinically in the kidneys (n = 45 patients), heart (n = 32), peripheral nerves (n = 11), and liver (n = 11). A monoclonal protein was found in the serum in 46 patients and in the urine in 57 patients. The median daily urinary protein loss was 4.1 g. Septal thickness, measured by echocardiography, ranged from 7 to 24 mm (median, 12 mm); 8 patients had a septal thickness > or =16 mm. Ten patients received transplants 1 year or more after diagnosis. All patients received melphalan-based chemotherapy; 17 patients were conditioned with total body irradiation. Nine patients required dialysis, 7 of whom died. Treatment-related mortality for stem cell transplantation was 14% (9/66). After a median of 25 months of follow-up after transplantation, the percentage of patients alive with one organ involved was 91% (31 of 34); two organs, 82% (18 of 22); three organs, 33% (3 of 9); and four organs, 0% (0 of 1). Hematologic responses were seen in 33 patients and organ responses in 32 patients. The 2-year actuarial survival of all patients was 70%. CONCLUSION: The number of organs involved before stem cell transplantation for amyloidosis is the most important factor in predicting subsequent survival. Stem cell transplantation should be considered as a treatment option for selected patients with amyloidosis.

Adult↗