Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “AMYLOIDOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,117 records · Page 62Linked to original sources
PubMed1999

Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64.

BACKGROUND: A Canadian family with oculoleptomeningeal amyloidosis with both central and peripheral nervous system disorders was described in 1988. Death of affected family members resulted from recurrent cerebral hemorrhage. OBJECTIVE: To determine if oculoleptomeningeal amyloidosis is caused by a mutation in transthyretin (prealbumin). METHODS: DNA isolated from peripheral blood and archival tissues of affected members of the kindred was studied by direct DNA sequencing and restriction fragment length polymorphism analysis. RESULTS: Direct DNA sequencing identified a thymine-to-cytosine transition at the second base of codon 64, which resulted in a replacement of serine for phenylalanine. This mutation, which creates an additional HinfI site was detected by restriction fragment length polymorphism analysis in each affected individual. CONCLUSION: In this kindred, oculoleptomeningeal amyloidosis is related to a mutation in transthyretin (Phe64Ser).

Adolescent↗
PubMed1976

Bilateral amyloidosis of the vitreous body: report of a case without systemic of familial involvement.

Amyloidosis of the vitreous body is an uncommon and often misdiagnosed condition that causes progressive visual loss. It is usually associated with primary familial systemic amyloidosis. The patient described in this report has amyloidosis of both vitreous bodies; her case is unusual because no other family members are affected and because there has been no evidence of systemic involvement over a seven-year observation period. After part of the vitreous body of her right eye was removed surgically, visual acuity improved from light perception to 20/60. New concepts regarding the nature, classification, and histochemical identification of amyloid are discussed.

Amyloidosis↗
PubMed1988

Restriction fragment length polymorphism analysis of mutated transthyretin in vitreous amyloidosis.

Amyloid deposits of the vitreous are usually associated with familial amyloidotic polyneuropathy (FAP). Various mutated forms of transthyretin (prealbumin) seem to form the main amyloid fibril component. Five Swedish patients, all with vitreous amyloidosis but no systemic symptoms or family history of amyloidosis, were examined using restriction fragment length polymorphism analysis. Genomic DNA was tested with a transthyretin complementary DNA probe. After cleavage with Nsi1, two restriction fragment length polymorphism markers of 5.1 and 1.5 kilobase were detected in the patients but not in the control subjects. These observations indicate the same methionine for valine substitution at position 30 of the transthyretin molecule in patients with vitreous amyloidosis as seen in Swedish patients with FAP as well as in patients with FAP from Japan and Portugal, and patients of Swedish descent with FAP from the United States.

Aged↗
PubMed1992

Surgical management of advanced ocular adnexal amyloidosis.

Ocular adnexal amyloidosis is characterized by amyloid deposition within the deep connective tissue layers of the eyelids, conjunctiva, and anterior orbit. Management of advanced cases has traditionally been unsatisfactory, with either no surgery offered because of fear of hemorrhage or an en bloc resection performed of the entire involved area. We present two cases of advanced periorbital amyloidosis successfully managed by preserving the anatomic planes of the eyelids and meticulously debulking the deposits with a spooned curette. Lax eyelid tendons and aponeuroses were simultaneously repaired, and no sacrifice of eyelid tissues was necessary. One patient remained asymptomatic for 2 years after surgery before developing early reaccumulation in the lower eyelids. The other patient required additional eyelid debulking and ptosis revision 8 months after surgery, but was in stable condition at follow-up 2 years after surgery. This technique offers safe, easily repeatable, nondestructive treatment for advanced periocular amyloidosis.

Amyloidosis↗
PubMed1982

Management of amyloidosis of the larynx and trachea.

Amyloidosis involving the upper portion of the respiratory tract is an uncommon disorder that may occur as an isolated phenomenon or, more unusually, as part of a systemic amyloidosis. This case of a 66-year-old man with amyloidosis of the larynx and trachea illustrates some recently developed concepts and techniques in the diagnosis and management of this problem.

Aged↗
PubMed1977

Agammaglobulinemia, plasma cell dyscrasia, and amyloidosis in a 12-year-old child.

A 12-year-old boy suffered from recurrent respiratory infections, an immune deficiency characterized by the complete absence of IgG, IgA, IgD, and the salivary "secretory component" associated with a plasma cell dyscrasia. Rectal and kidney biopsy specimens showed amyloid deposits. Amyloidosis has been extensively studied by several groups of investigators in patients with plasma cell dyscrasia in general, and in patients with lambda-Bence Jones proteinuria in particular, but the finding of a monocional serum IgM-lambda component in an agammaglobulinemic child with Bence Jones proteinuria and amyloidosis represents a puzzling clinical syndrome. Searching for monoclonal components in patients with amyloidosis, even if they are agammaglobulinemic, is important. We also discuss here the "mixed type" of amyloid deposition and its relation to the recurrent infections and the plasma cell dyscrasia in this patient.

Agammaglobulinemia↗
PubMed1977

Systemic amyloidosis in cystic fibrosis.

We report two siblings with cystic fibrosis and systemic amyloidosis. The major clinical problem in both cases was recurrent respiratory infection with pulmonary fibrosis and bronchiectasis prior to death at ages 20 and 22 years. Findings from postmortem examinations disclosed diffuse amyloidosis. In addition, amyloid infiltration developed in both patients, with enlargement of the thyroid gland, and one required thyroidectomy. An autopsy review of 17 additional cases of cystic fibrosis failed to disclose any other instances of systemic amyloidosis.

Adult↗
PubMed1985

Amyloidosis as a complication of cystic fibrosis.

Amyloidosis appears to be a rare complication of cystic fibrosis. We discuss three patients with amyloidosis complicating cystic fibrosis to add to the six patients previously recorded. The presenting problem was proteinuria in five patients, thyromegaly in three patients, and hepatosplenomegaly in one patient. The progression of proteinuria to nephrotic syndrome and edema occurred in eight of nine patients and portended a very poor prognosis. The kidneys, adrenal glands, spleen, thyroid gland, liver, heart, and bowel were most frequently involved. Renal involvement is a frequent and devastating complication of amyloidosis in patients with cystic fibrosis.

Adult↗
PubMed1999

Phase II trial of high-dose dexamethasone for previously treated immunoglobulin light-chain amyloidosis.

Immunoglobulin light-chain amyloidosis (AL) is a rare disorder characterized by production of a monoclonal light chain. This insoluble light chain, or a fragment thereof, deposits in tissues as amyloid and results in disruption of organ function and, ultimately, in death. Although melphalan and prednisone are beneficial in approximately 30% of patients with the disease, many patients fail to respond, and the median survival with this disease remains < 2 years. There is a need for new agents for those patients who fail to respond to melphalan-based chemotherapy. A study was undertaken of high-dose dexamethasone in the treatment of 19 patients with AL because of reports of its benefits in previously untreated patients with amyloidosis and its known activity in the management of multiple myeloma, which has many characteristics in common with AL. In this cohort, 3 of 19 patients showed an objective organ response of the disease. The median survival of the entire group was 11.2 months. We conclude that high-dose dexamethasone therapy is of occasional benefit in patients previously treated for amyloidosis. Combining dexamethasone with other therapies may increase the response rate.

Aged↗
PubMed1976

Nodular malignant lymphoma and amyloidosis. A case report.

A case of long-standing, nodular malignant lymphoma of lymphocytic type associated with nephrotic syndrome and systemic amyloidosis is presented. Review of literature revealed only six previously reported cases of systemic amyloidosis complicating non-Hodgkin's lymphomas. Recent studies have revealed that all of the nodular lymphomas are B-lymphocyte malignancies; that nodular lymphomas have high incidence (46-64%) of abnormality of intracellular immunoglobulin synthesis; that abnormality of serum immunoglobulin in such patients in uncommon (0-8%); and that at least one type of amyloid fibrils is made up of immunoglobulin light chains. These findings would suggest that there is an etiologic relationship between nodular lymphoma and systemic amyloidosis.

Amyloidosis↗
PubMed2001

Abdominal fat pad aspiration biopsy for tissue confirmation of systemic amyloidosis: specificity, positive predictive value, and diagnostic pitfalls.

Abdominal fat pad fine-needle aspiration biopsy (FNAB) is considered the method of choice for confirmation of systemic amyloidosis. Due to our impression that positive results are rare in our FNA service, we retrospectively analyzed our results. Forty-five samples collected from 45 patients over 3 yr were reviewed. Of the 7 patients with positive Congo red-stained FNAB specimens, all 7 (100%) had documented amyloidosis. Of the 33 patients with negative Congo red fat samples, 28 (85%) were disease-free. Of the 5 patients with inadequate samples, 2 (40%) were later diagnosed with disease. We demonstrate excellent specificity (100%). The positive predictive value, documented in only a few previous studies, is likewise excellent (100%). Sensitivity is low (58%) and inadequacy is high (11%). Improvement in technique, such as concurrent cell block preparation, may help avoid inadequate specimens. Difficulties in confirming amyloidosis also include interpretation of the Congo red stain (pale-stained amyloid fibrils and collagen birefringence).

Abdomen↗
PubMed1990

Phase II trial of alpha-tocopherol (vitamin E) in the treatment of primary systemic amyloidosis.

Primary systemic amyloidosis (AL) is a rare disorder characterized by deposition of a monoclonal immunoglobulin light chain or fragment thereof, resulting in dysfunction of the heart, kidney, liver, or nerves. Despite the use of melphalan, prednisone, colchicine, and dimethyl sulfoxide (DMSO), no improvement in median survival has been reported in prospective randomized studies. We undertook a study of alpha-tocopherol acetate (vitamin E) in the treatment of 16 patients with AL because of its reported benefits in animal models of senile and secondary amyloidosis as well as reported benefit in the treatment of secondary amyloidosis in humans. None of the patients showed any objective regression of their disease. The median survival of the entire group was 19.4 months. This survival is not superior to that reported with other agents used in this disease. We conclude that alpha-tocopherol is not a valuable agent in the treatment of AL.

Adult↗
PubMed1994

Reversal of nephrotic syndrome due to reactive amyloidosis (AA-type) after excision of localized Castleman's disease.

The patient (TAL), a chronic asymptomatic HBV carrier with HBsAg-anti-HBsAg circulating immune complexes, was admitted to our hospital because of a nephrotic syndrome due to renal amyloidosis. There was no family history of hereditary amyloidosis. Recurrent arthralgias, asthenia, and weight loss were the prominent clinical features. Laboratory test results showing that severe chronic inflammatory activity had been present for 6 years. Interleukin-6 (IL-6) serum concentration was 10 times normal and C-reactive protein was 1.9 mg/ml. A complex immunological picture was also present (immune complex formation, exuberant B-cell reactivity, and decrease in the number of CD4 T cells). A localized form of Castleman's disease (CD) (plasma-cell type) was diagnosed by surgical excision of a giant axillary lymph node. AA amyloid was present in the blood vessels. Within 60 days after excision of the mass, the systemic symptoms subsided, laboratory signs of inflammatory activity disappeared and IL-6 serum concentration returned to normal, thus establishing a causal relationship between the localized Castleman's disease, elevated IL-6 concentration and the chronic inflammation responsible for AA amyloidosis. At 10 months of follow-up, the nephrotic syndrome has reversed, kidney function has slowly ameliorated, and the patient has gained 12 kg. Abdominal fat aspirates drawn to search for amyloid, positive before surgery, were subsequently negative. The latter finding, and the remission of the nephrotic syndrome, provided strong evidence for regression of the amyloid deposits. However, the HBsAg-anti-HBsAg immune complexes and depression of T-helper cell activity persist. This immunological derangement is therefore not a consequence of CD. Chronic stimulation of the immune system due to the patient's inability to eliminate HBV, in the contest of perturbed immunity, may have favored the genesis of the lymphadenopathy.

Adult↗
PubMed1989

Lack of association of a restriction fragment length polymorphism for serum amyloid P gene with reactive amyloidosis.

The prevalence of a recently described restriction fragment length polymorphism using Msp I for the serum amyloid P gene was determined in 5 groups of patients. Patients with reactive (secondary) amyloidosis, juvenile rheumatoid arthritis, related inflammatory conditions, or juvenile rheumatoid arthritis with reactive amyloidosis, and healthy control subjects were found to be polymorphic for 8.8-kb and 5.6-kb gene fragments; they either had one or the other or both fragments. No significant differences were seen between these groups with relation to this polymorphism, and no correlation with the presence of reactive amyloidosis was observed.

Amyloidosis↗
PubMed1979

Serum amyloid A protein in amyloidosis, rheumatic, and enoplastic diseases.

Serum levels of amyloid protein A (SAA) have been shown to be elevated in different types of amyloidosis and in rheumatic diseases by radioimmunoassay using 125 iodine labeled AA and anti-AA. SAA levels were elevated in both primary and secondary amyloidosis, but there were highly significant differences between these levels. In heredofamilial amyloid, SAA levels were within normal limits. While the mean SAA level was elevated in persons over 70 years, the fact that some persons in this age group had normal levels suggested that marked elevation after age 70 may be due to occult inflammatory or neoplastic disease. High SAA levels in patients with rheumatoid arthritis correlated, in most cases, with physician evaluation of disease activity and Westergren ESR. SAA levels in patients with systemic lupus erythematosus were lower than those in patients with rheumatoid arthritis, and most patients with degenerative joint disease had normal levels. Very high levels of SAA were found in patients with neoplastic diseases. Patients with carcinoma of the lung and bowel had much higher levels than patients with carcinoma of the breast. Determination of SAA levels may be of value in evaluating different forms of systemic amyloidosis, assessing the activity of rheumatic disease, and screening for occult inflammatory or neoplastic disease.

Aged↗
PubMed1990

Amyloidosis in Behçet's syndrome.

We investigated the frequency of amyloidosis in 99 consecutive patients (65 men and 34 women) with Behçet's syndrome. Rectal biopsies performed on all patients showed no amyloidosis by polarizing microscopy. The results of urinalyses were normal in all patients. Among 1,130 patients registered in our Behçet's syndrome outpatient clinic, 5 were found to have systemic amyloidosis, all of the AA type.

Adolescent↗
PubMed1993

Primary systemic amyloidosis masquerading as giant cell arteritis. Case report and review of the literature.

Amyloidosis is a rare disease in which a fibrillar protein is deposited in multiple human tissues. Of the 4 subtypes, the most common type involving rheumatic disease features is hemodialysis-associated amyloidosis. Herein we describe an elderly man who presented with symptoms of giant cell arteritis or systemic vasculitis and was found to have amyloidosis as demonstrated on muscle, nerve, and temporal artery biopsy.

Aged↗
PubMed1994

Colchicine treatment of AA amyloidosis of familial Mediterranean fever. An analysis of factors affecting outcome.

OBJECTIVE: To elucidate factors possibly influencing the outcome of colchicine therapy in patients with amyloidosis of familial Mediterranean fever (FMF). METHODS: Retrospective analysis of data abstracted from the charts of all 68 FMF patients with amyloidosis who presented during the study period (1974-1992) with proteinuria (> or = 0.5 gm/24 hours) and creatinine values < or = 2.5 mg/dl, received colchicine, and were followed up for > or = 5 years. RESULTS: At the end of the study period, kidney disease had worsened in 31 patients and remained stable in 22. Proteinuria had regressed in 15 patients. Deterioration was related to initial serum creatinine values > or = 1.5 mg/dl (P < 0.01) and to mean colchicine dosage < or = 1.5 mg/day (P < 0.001). The 3 groups were comparable in terms of initial urinary protein levels, duration of proteinuria, presence of hypertension, occurrence of febrile attacks, sex distribution, and proportion of non-compliant patients. CONCLUSION: The therapeutic dosage of colchicine for amyloidosis of FMF is > 1.5 mg/day. This dosage is effective only in patients with initial serum creatinine levels < 1.5 mg/dl.

Adult↗