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PubMed2006

Bullous amyloidosis of the oral cavity: a rare clinical presentation and review.

Bullous amyloidosis (BA) is a rare cutaneous manifestation primarily of systemic amyloidosis, a disease in which abnormal proteinaceous material is formed and deposited in response to inflammatory conditions and plasma cell dyscrasias. Hemorrhagic bullae indicative of BA are usually associated with purpura and may be the initial clinical signs of systemic amyloidosis or monoclonal gammopathies, such as multiple myeloma and Waldenstrom's macroglobulinemia. Bullous amyloidosis of the oral cavity is highly uncommon and can mimic other vesiculobullous lesions of the oral mucosa. This article highlights an unusual case of oral BA and reviews important aspects of the disease.

Amyloidosis↗
PubMed1983

Sensitivity of technetium-99m-pyrophosphate scintigraphy in diagnosing cardiac amyloidosis.

To determine the value of technetium-99m-pyrophosphate myocardial scintigraphy in the diagnosis of amyloid heart disease this procedure was prospectively performed in 20 consecutive patients with biopsy-proven primary amyloidosis. Eleven patients had echocardiographic abnormalities compatible with amyloid cardiomyopathy, 9 of whom had congestive heart failure. Diffuse myocardial pyrophosphate uptake was of equal or greater intensity than that of the ribs in 9 of the 11 patients with echocardiograms suggestive of amyloidosis, but in only 2 of the 9 with normal echocardiograms, despite abnormal electrocardiograms (p less than 0.01). Increased wall thickness measured by M-mode echocardiography correlated with myocardial pyrophosphate uptake (r = 0.68, p less than 0.01). None of 10 control patients with nonamyloid, nonischemic heart disease had a strongly positive myocardial pyrophosphate uptake. Thus, myocardial technetium-99m-pyrophosphate scanning is a sensitive and specific test for the diagnosis of cardiac amyloidosis in patients with congestive heart failure of obscure origin. It does not appear to be of value for the early detection of cardiac involvement in patients with known primary amyloidosis without echocardiographic abnormalities.

Aged↗
PubMed2001

Primary systemic amyloidosis: a cause of malabsorption syndrome.

PURPOSE: Although malabsorption syndrome is encountered frequently by general internists and gastroenterologists and is common to various underlying disease processes, primary amyloidosis is often overlooked during medical evaluation. We describe the diagnosis, natural history, and laboratory features of a subgroup of patients with primary amyloidosis who presented predominantly with gastrointestinal symptoms and with evidence of a malabsorption syndrome. SUBJECTS AND METHODS: We reviewed all patients diagnosed with amyloidosis and malabsorption syndrome who had been seen at the Mayo Clinic from 1960 through 1998. Nineteen patients with small bowel biopsy results showing primary amyloid and with laboratory evidence of a malabsorption syndrome were studied. RESULTS: The most common symptoms were diarrhea or steatorrhea in 95% of patients (n = 18), anorexia in 42% (n = 8), and dizziness in 32% (n = 6). The most common signs included weight loss in all 19 patients, with a median weight loss of 30 pounds (range, 2 to 134 pounds) and hypotension or orthostatic changes in 10 patients (53%). The median time from symptom onset to diagnosis was 7 months. Most patients had evidence of amyloid involvement of other organs. Only 3 patients (16%) were diagnosed correctly upon initial presentation. Serum or urine protein electrophoresis results were positive in 95% of patients (n = 18). Median survival was 11 months from histologic diagnosis. CONCLUSIONS: Primary systemic amyloidosis should be considered in the differential diagnosis of malabsorption syndrome. All patients over 30 years of age with a malabsorption syndrome should have screening serum and urine immunofixation before undergoing a small bowel biopsy.

Adult↗
PubMed1998

Prognosis of patients with primary systemic amyloidosis who present with dominant neuropathy.

BACKGROUND: Primary systemic amyloidosis is an uncommon disorder associated with the desposition of fragments of immunoglobulin light chains in a variety of tissues. Some patients present with peripheral neuropathy. The prognosis of these patients is not clear. METHODS: We searched the medical records of all patients seen at the Mayo Clinic between January 1, 1978 and December 31, 1994 with the diagnosis of amyloidosis. Twenty-six patients with sural nerve biopsy-proven amyloid neuropathy and a documented monoclonal protein in the serum or urine were studied. RESULTS: The most common symptoms that led to the diagnosis of primary amyloid neuropathy were paresthesias (81%), muscle weakness (65%), and numbness (58%). The median duration of symptoms before diagnosis was 29 months. Symptoms of autonomic neuropathy were present at diagnosis in 17 patients (65%). Other organs were involved in most patients. The monoclonal light chain protein detected was lambda in 18 patients (69%) and kappa in 8 (31%). The neuropathy was chronic, debilitating, and showed relentless progression. Twenty-two patients (85%) died (median survival 25 months) and 4 patients were alive at a median follow-up of 4.5 years. Progressive amyloidosis was the cause of death in most patients. Survival was significantly better in the patients with a serum albumin level >3 g/dL (median survival 31 months compared with 18 months; P <0.01, log-rank test). CONCLUSIONS: Patients with primary systemic amyloidosis in whom neuropathy is the dominant clinical manifestation often do not receive a diagnosis until years after the onset of symptoms. The prognosis is worse than previously indicated. Neuropathy does not improve with therapy.

Actuarial Analysis↗
PubMed1992

An immunohistochemical study of gelsolin immunoreactivity in corneal amyloidosis.

A variant of the actin-modulating protein gelsolin has recently been identified as a component of the amyloid deposits in familial amyloidosis, Finnish type (Meretoja's syndrome), and has been demonstrated immunohistochemically in amyloid deposits in the cornea, and in the skin, kidney, heart, thyroid gland, salivary gland, and rectum of patients with this disease. With the use of immunohistochemistry involving an antibody against gelsolin, we examined a corneal specimen from a patient with Meretoja's syndrome and 14 corneal specimens with lattice dystrophy type I, atypical lattice dystrophy, polymorphic amyloid degeneration, primary familial amyloidosis, or secondary corneal amyloidosis. Our results showed the presence of a gelsolin-related protein either within or around corneal amyloid deposits in nine of the 15 specimens and markedly increased anti-gelsolin immunoreactivity of the corneal keratocytes in 13 of the 15 diseased corneas. These data indicated that the accumulation of gelsolin may be seen in various forms of amyloidosis and may not be confined to Meretoja's syndrome.

Adult↗
PubMed1998

Bilateral multifocal retinal arteriolar sheathing as the only ocular finding in hereditary amyloidosis.

PURPOSE: To report the early ocular findings in hereditary amyloidosis. METHODS: Case report of a visually asymptomatic, 52-year-old Mexican man with systemic manifestations of amyloidosis (peripheral neuropathy, restrictive cardiomyopathy), with a positive family history, and with amyloid on an endomyocardial biopsy specimen, who had bilateral multifocal sheathing or cuffing of the peripheral retinal arterioles. RESULT: An extensive evaluation for retinal vasculitis was discontinued when hereditary amyloidosis was diagnosed. CONCLUSION: Focal retinal periarteriolar plaques of amyloid may be the earliest and only ocular finding of hereditary amyloidosis.

Amyloid↗
PubMed2004

A case of primary diffuse tracheobronchial amyloidosis.

Tracheobronchial amyloidosis (TBA) is an uncommon localized form of amyloidosis with fewer than 150 reported cases in the literature. We report a case of primary diffuse tracheobronchial amyloidosis who presented with cough, wheezing, recurrent and progressive dyspnea as well as hemoptysis. Though there is no universally accepted treatment for the localized form, this patient was successfully treated with three sessions of bronchoscopic resection and adjuvant steroids. This report will review the various types of amyloidosis of the respiratory tract and their clinical features, in addition to discussing the different available treatment modalities for TBA.

Amyloidosis↗
PubMed1997

Human choroid plexus is an uniquely involved area of the brain in amyloidosis: a histochemical, immunohistochemical and ultrastructural study.

To better understand the characteristics of amyloid deposition in the choroid plexus, we examined autopsied brain by routine histology, immunohistochemistry, and electron microscopy in three group of patients: primary systemic amyloidosis (n = 7), cerebral amyloid angiopathy (CAA, n = 6), and controls (n = 3). Three of the CAA patients had Alzheimer's disease. Congophilic, birefringent amyloid deposits of the choroid plexus were seen in six of the seven cases of systemic light chain amyloidosis. Immunohistochemistry revealed that the deposited amyloids had reactivity for immunoglobulin light chain and amyloid P component. Accumulation of macrophages labeled with monoclonal antibodies against CD 68 and major histocompatibility complex class II antigens were observed around the massive amyloid deposits. The presence of approximately 10 nm amyloid fibrils along the epithelial basement membrane as well as in the vascular walls was ascertained by electron microscopy. In CAA, Congo red-positive amyloid deposits were consistently present in meningeal blood vessels and were often found in senile plaques of the cerebral parenchyma; congophilic amyloid deposits were absent in the choroid plexus. Choroid plexus epithelial cells exhibited immunostaining for beta amyloid precursor protein (APP) with N-terminal- and C-terminal-specific antibodies; in particular, consistent staining was obtained for the latter antibody. Immunoreactivity for amyloid beta protein (A beta) with monoclonal antibodies (6E10, 4G8) was often found in choroid plexus epithelial cells. These findings suggest that amyloid deposition of the choroid plexus depends on the major component protein in amyloidosis, and that the choroid plexus may produce APP and A beta protein although A beta amyloidosis is not evident in the choroid plexus.

Aged↗
PubMed2003

Abdominal amyloidosis: spectrum of radiological findings.

Amyloidosis is a disease characterized by the deposition of fibrillar protein amyloid of beta-structure in organs or tissues. It is usually classified as either a primary disease or secondary to a co-existent condition, such as rheumatoid arthritis, tuberculosis, or neoplasm (particularly multiple myeloma or renal cell carcinoma). Amyloid protein deposition can be seen in a variety of organs though it occurs with higher frequency in the gastrointestinal tract, kidney, and heart. Amyloidosis can have a wide spectrum of manifestations in nearly every abdominal organ. Some of these, for example, multiple cystic submucosal masses of the stomach, amyloidosis of the gallbladder, and dirty soft tissue infiltration of the subcutaneous fat, have not yet been covered in the radiological literature. The combination of various imaging techniques and the identification of characteristic computed tomography (CT) hepatic features may help in the differentiation of amyloidosis from other infiltrative diseases; however, confirmative diagnosis can usually only be achieved by tissue biopsy.

Adult↗
PubMed1998

Apolipoprotein A-I induced amyloidosis.

Amyloidosis is characterized by extracellular deposits of protein fibrils with a high content of beta-sheets in secondary structure. The protein forms together with proteoglycans amyloid fibrils causing organ damage and serious morbidity. Intact apolipoprotein A-I (apoA-I) is an important protein in lipid metabolism regulating the synthesis and catabolism of high density lipoproteins (HDL). Usually, apoA-I is not associated with amyloidosis. However, four naturally occurring mutant forms of apoA-I are known so far resulting in amyloidosis. The most important feature of all variants is the very similar formation of N-terminal fragments which were found in the amyloid deposits (residues 1-83 to 1-94). The new insights in the understanding of the association of apoA-I with HDL, its metabolism, and its hypothesized structural findings may explain a common mechanism for the genesis of apoA-I induced amyloidosis. Here we summarized the specific features of all known amyloidogenic variants of apoA-I and speculate about its metabolic pathway, which may have general implications for the metabolism of apoA-I.

Amyloidosis↗
PubMed1999

Pregnancy and amyloidogenesis: I. Offspring of amyloidotic mice are not predisposed to develop amyloidosis.

Amyloid enhancing factor (AEF) is a substance formed during amyloidogenesis that accelerates amyloid deposition in tissues. The administration of AEF followed by AgNO3 (inflammatory stimulus) to mice results in amyloidosis within 6 days. The purpose of the study was to determine whether the offspring of amyloidotic mice are exposed to maternal AEF during pregnancy and therefore become predisposed to the development of amyloidosis on inflammatory stimulus. To that end female mice were made amyloidotic by the administration of AEF and AgNO3, made pre-amyloidotic (a condition associated with self-generation of AEF) with a short course of casein, or treated with exogenous AEF without AgNO3; then mating and conception took place. The possible priming of offspring with maternal AEF was studied by the administration of AgNO3 alone (without AEF) to the offspring and the determination of the presence of amyloid deposits in their spleens. Despite the long-term effect of AEF and its high activity, amyloidosis did not develop in any of the studied offspring, implying that the newborn mice were not primed by maternal AEF. These findings suggest that amyloidotic mothers do not predispose their offspring to the risk of developing amyloidosis, probably because maternal AEF does not cross the placenta.

Amyloidosis↗
PubMed1976

Amyloidosis of the lower genitourinary tract.

Three patients with amyloidosis of the lower genitourinary tract are described. In the cases of primary localized amyloidosis of the urethra and primary systemic amyloidosis involving the prostate the clinical presentation mimicked cancer of the respective sites. In the case of secondary localized amyloidosis of the seminal vesicles chronic perineal pain suggested seminal vesiculitis.

Adenocarcinoma↗
PubMed1981

Subepithelial argyrophilic spicular structures in renal amyloidosis--an aid in diagnosis. Pathogenic considerations.

Eighteen cases of amyloidosis with renal involvement were classified utilizing clinical and laboratory data as to the most likely major amyloid fibril protein type and studied as to their histological, tinctorial, immunofluorescence, and electron microscopic features. No differences could be appreciated between the AA and AL types of amyloidosis. Immunofluorescence did not aid in the diagnosis of amyloidosis and was confusing in some cases owing to apparent absorption of serum proteins. Subepithelial spicular structures were noted in the glomerular capillary loops in 14 of 18 cases (78 per cent), and similar structures were found related to tubular epithelial cells in six of these cases and were related to the parietal epithelium of Bowman's membrane in one case. These spicular structures were a valuable aid in the diagnosis of early amyloidosis by light microscopy, but electron microscopy was essential for confirmation. We postulate that because of the intense staining quality of spicular structures using argyrophilic techniques, these spicules result from a unique interaction between amyloid fibrils and locally produced substances, most probably renal epithelial basement membrane glycoprotein.

Adult↗
PubMed1984

Nodular mediastinal amyloidosis.

A 67-year-old woman presented with supraclavicular lymphadenopathy, a large mediastinal mass, marrow plasmacytosis, and paraproteins, including free lambda light chains, in the serum and urine. Biopsies of the lesions demonstrated nodular amyloidosis, which was confirmed by ultrastructural and cytochemical analyses. Immunoperoxidase staining indicated that the amyloid was composed of lambda light chains. Nodular mediastinal amyloidosis is a rare manifestation of amyloidosis and appears to be a form of immunocytic amyloidosis.

Aged↗
PubMed1985

Congo red-negative amyloidosis-like glomerulopathy.

Three cases of amyloidosis-like glomerulopathy are presented in which renal amyloidosis was initially diagnosed on the basis of ultrastructural findings, despite negative Congo red staining. The histologic and immunofluorescence findings and, on careful examination, ultrastructural features of this amyloidosis-like glomerulopathy all serve to distinguish it from true amyloidosis. The clinical behavior suggests that it is a primary glomerulopathy since, with time, no other systems become involved.

Adult↗
PubMed2005

[Nail abnormalities and scleroderma-like lesions on the face associated with systemic amyloidosis].

INTRODUCTION: Mucocutaneous involvement in systemic amyloidosis occurs in 29 to 40 p. 100 of cases. Nail abnormalities are infrequent in AL amyloidosis. We report an original case of AL amyloidosis associated with cutaneous and integument alterations and scleroderma-like infiltration of the face. CASE REPORT: A 73 year-old woman was hospitalized because of weight loss and asthenia. She had been treated 4 years earlier with chemotherapy for a IgG-type multiple myeloma with complete resolution of the underlying monoclonal gammapathy. Cutaneous examination showed nail dystrophy of all fingernails associated with scleroderma-like skin changes on the chin and lips. Histopathologic study of a chin biopsy confirmed the presence of amyloid deposits in the dermis. Laboratory data were normal, without signs of recurrence of multiple myeloma. DISCUSSION: We report an original case of a patient who developed two unusual cutaneous manifestations associated with AL amyloidosis. Moreover, there was no correlation between the severity of the cutaneous lesions and the extent of the underlying hematological disease.

Aged↗
PubMed1988

Corneal amyloidosis associated with keratoconus.

Nodular, gray-white, central corneal opacities which extended from the subepithelial zone through the anterior four fifths of the stroma developed in a 50-year-old man with a longstanding history of hard contact lens wear for keratoconus. Results of histopathologic analysis of the corneal button obtained at the time of penetrating keratoplasty disclosed that the opacities were composed of amyloid. Corneal amyloidosis is rarely found in association with keratoconus. Although there were some similarities in the pattern of amyloid deposition to that seen in primary familial amyloidosis of the cornea, the authors believe that their patient is more likely to have had a secondary amyloidosis. Corneal amyloidosis should be considered in keratoconus patients with development of unusual forms of central corneal opacification.

Amyloidosis↗
PubMed2000

[Bladder amyloidosis: report of 2 cases].

Two cases of amyloidosis of the bladder are reported: 1) a 45 year old man with haematuria. Cystoscopic examination reveals several tumours in the wall of the bladder. Transuretral resection was performed and histopathological examination revealed primary amyloidosis. Systemic amyloidosis was excluded. He was treated with oral colchicine with success. 2) a 71 year old male with diagnosis of rheumatoid arthritis and systemic amyloidosis visited our hospital with massive haematuria. Transuretral resection was unsuccessful and was necessary surgical ligation of hypogastric arteries.

Aged↗