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 1,099 records · Page 61Linked to original sources
PubMedDate not supplied

[Systemic amyloidosis associated with common variable hypogammaglobulinemia and intestinal lymphoid nodular hyperplasia].

Common variable hypogammaglobulinemia syndrome with lymphoid nodular hyperplasia of the intestine forms part of the so-called hypogammaglobulinemic enteropathies. It is characterized by decreased serum immunoglobulins, recurrent respiratory tract infections and chronic diarrhea. The development of systemic amyloidosis is infrequent, but it can be explained by the multiple infections in this setting. The case of a 47-years old woman with hypogammaglobulinemic enteropathy, who developed systemic amyloidosis is presented. It was manifested as a nephrotic syndrome. The previously published reports include 12 cases of common variable hypogammaglobulinemia with systemic amyloidosis. Half of them presented nephrotic syndrome as a manifestation of their amyloidosis. It is important to keep in mind this complication in these patients' follow-up in order to increase the doses of gammaglobulin. That is the way to compensate their additional losses because of the nephrotic syndrome that they usually develop.

Agammaglobulinemia↗
PubMed1977

The clinical significance of senile cardiac amyloidosis: a prospective clinico-pathological study.

The heart was screened for amyloid deposits in an unselected post-mortem series of 244 patients over 60 who had been admitted to a geriatric department. Cardiac amyloidosis was found in 121 cases (49-6 per cent) but was limited to minor atrial involvement in 55 (22-5 per cent). The prevalence and severity of cardiac amyloidosis were significantly related to age and sex, females having the higher prevalence (56 per cent compared with 37 1/2 per cent). Cardiac amyloidosis was also significantly correlated with the occurrence of atrial fibrillation and of cardiac failure during the period of admission to hospital. Cardiac amyloidosis showed no significant correlations with other factors studied which included ECG evidence of left ventricular hypertrophy, ischaemia and bundle branch block, pathological evidence of cardiac enlargement or ischaemia, diagnosis of malignant disease, generalized wasting and the occurrence of digitalis toxicity.

Age Factors↗
PubMed1977

[Secondary amyloidosis in Hodgkin's disease].

One case with secondary amyloidosis is described, manifested by a nephrotic syndrome, 13 years after the establishment of lymphogranulomatosis in a male, ages 46. Amyloidosis diagnosis with biopsy, after a long-term remission in a patient with a relatively restricted lymphogranulomatosis is of certain interest. The diagnostic difficulties of secondary amyloidosis in Hodgkin disease are discussed as well as the mechanism origination and the role of certain medicaments in amyloidosis origination and treatment.

Amyloidosis↗
PubMed1997

Detection of Epstein-Barr virus in primary cutaneous amyloidosis.

To determine the association of Epstein-Barr virus (EBV) with primary cutaneous amyloidosis (PCA), a retrospective study was conducted on skin tissue from 27 Chinese patients with lichen amyloidosus and macular amyloidosis. In situ hybridization with oligonucleotide probes was used to detect the expression of EBV-encoded RNAs (EBERs). Eleven of 27 cases (40.7%) were found to contain the EBV genome. No EBV genome was detected in the skin of the control groups, including three cases of secondary cutaneous amyloidosis, two cases of primary systemic amyloidosis, and four cases of lichen simplex chronicus. Our study showed no correlation between the presence of EBV in PCA patients and the patients' age, sex, clinical type or severity of the skin lesions. Although our results suggest that EBV may be associated with some cases of PCA, the true aetiological role of EBV in PCA remains unknown.

Adult↗
PubMed1997

Apolipoprotein E and alpha 1-antichymotrypsin in dialysis-related amyloidosis.

Dialysis-related amyloidosis as represented by carpal tunnel syndrome is a serious complication of long-term dialysis treatment of patients with chronic renal failure. beta 2-microglobulin has been identified as a structural component of the amyloid deposits, but other factors also are associated with amyloid formation. We recently demonstrated the presence of apolipoprotein E and alpha 1-antichymotrypsin in the amyloid deposits. We therefore analyzed how polymorphic variants of both genes were related to the onset of amyloidosis. Among the apolipoprotein E genotypes, allele epsilon 2 represented a protective factor that delayed the onset of disease. In contrast, polymorphic alpha 1-antichymotrypsin alleles had no effect on the onset of amyloidosis. Thus, the apolipoprotein E epsilon 2 allele can be added to the list of factors that determine the onset of dialysis-related amyloidosis, which include patient age at initiation of dialysis therapy, dialysis duration, and the dialysis membrane used.

Amyloidosis↗
PubMed1976

Amyloidosis of the stomach: report of an unusual case and review of the literature.

Amyloidosis confined to the stomach is a rare occurrence; the second reported case is presented. Involvement of the stomach with widespread "primary" and "secondary" amyloidosis, the amyloidosis of multiple myeloma, and the familial forms is a common pathologic finding; the involvement is seen clinically less often. The incidence, clinical presentation, diagnosis, pathological findings and treatment are reviewed. The diagnosis should be kept in mind in all patients who have signs or symptoms compatible with peptic ulcer disease or gastric carcinoma. This is especially important for those with multiple myeloma, chronic debilitating diseases or a family history that predisposes them to the development of amyloidosis.

Adenocarcinoma↗
PubMed1997

Heart rate variability in patients with secondary amyloidosis.

Heart rate variability (HRV) is increasingly being used to evaluate the function of the autonomic nervous system. Although autonomic dysfunction has been described in primary amyloidosis patients, this has not been established for patients with secondary amyloidosis. This study examines the autonomic function of 23 biopsy-proven secondary amyloidosis patients (10 male, 13 female) and compares it with 19 healthy (8 male, 11 female) sex- and age-matched controls (Group III), using frequency- and time-domain HRV analysis. The study group was further divided according to renal function; Group I (14 nonuremic patients with serum creatinine level < 1.4 mg/dl) and Group II (9 uremic patients with serum creatinine level > 1.4 mg/dl). In time domain analysis, standard deviation and mean of the standard deviation of all normal R to R intervals, and standard deviation of the average normal R to R interval were significantly lower in Groups I and II as compared to Group III. In frequency domain analysis, low frequency power (LF), representing sympathetic function, was significantly lower in Groups I and II as compared to Group III, but high frequency power (HF), representing parasympathetic function, and the LF/HF ratio, as an index of sympathovagal balance, were not different among the groups. In conclusion, in patients with secondary amyloidosis, sympathetic components of heart rate variables decreased before the onset of uremia and the change became more prominent with the appearance of uremia despite not reaching statistical significance.

Adult↗
PubMed1998

Primary systemic amyloidosis with delayed progression to multiple myeloma.

BACKGROUND: Primary systemic amyloidosis (AL) and multiple myeloma both are clonal plasma cell proliferative disorders. Although 10-15% of patients with myeloma have coexisting primary amyloidosis, it is unusual for patients with primary amyloidosis to progress to myeloma at a later date. The authors describe a case series of six patients in whom such progression occurred. METHODS: A computerized search was done of the medical records of all patients seen at the Mayo Clinic between January 1, 1960 and December 31, 1994 with a diagnosis of AL. Of 1596 patients with AL, 6 patients (age range, 60-74 years; median age, 68 years) with biopsy-proven AL were reviewed in whom delayed (at least 6 months after the diagnosis of AL) progression to multiple myeloma occurred. RESULTS: At the time of the diagnosis of AL, none of the six patients had evidence of multiple myeloma. The dominant manifestation of AL was peripheral neuropathy in three patients and cutaneous AL, renal AL, and amyloid arthropathy in one patient each. The diagnosis of multiple myeloma was made 10-81 months after the diagnosis of AL, based on the demonstration of multiple osteolytic lesions (4 patients) or marked bone marrow infiltration (> or = 50%) by plasma cells (5 patients). Two patients had received chemotherapy (melphalan and prednisone) for AL. Five patients received chemotherapy (four patients) or high dose methylprednisolone (one patient) after the diagnosis of multiple myeloma. Five patients died, and the median actuarial survival after the diagnosis of multiple myeloma was 20 months. Multiple myeloma was the cause of death in four patients; one patient died of systemic amyloidosis. In 2 patients death occurred within 3 months. CONCLUSIONS: AL occasionally progresses to overt multiple myeloma. These cases usually occur in patients without significant cardiac or hepatic AL who live long enough to develop multiple myeloma.

Aged↗
PubMed1998

Dose-intensive melphalan with blood stem-cell support for the treatment of AL (amyloid light-chain) amyloidosis: survival and responses in 25 patients.

AL (amyloid light-chain) amyloidosis is an uncommon plasma cell disorder in which depositions of amyloid light-chain protein cause progressive organ failure and death in a median of 13 months. Autologous stem-cell transplantation is effective therapy for multiple myeloma and therefore, we evaluated its efficacy for AL amyloidosis. Patients with adequate cardiac, pulmonary, and renal function had stem cells mobilized with granulocyte-colony stimulating factor and were treated with dose-intensive intravenous melphalan (200 mg/m2). Response to therapy was determined by survival and improvement of performance status, complete response or persistence of the clonal plasma cell disorder, and change in the function of organs involved with amyloid at baseline. We enrolled 25 patients with a median age of 48 years (range, 29-60), all of whom had biopsy-proven amyloidosis with clonal plasma cell disorders. Twenty-two (88%) were Southwest Oncology Group performance status 1 or 2 within a year of diagnosis, and 16 (64%) had received no prior therapy. Predominant amyloid-related organ involvement was cardiac (n = 8), renal (n = 7), hepatic (n = 6), neuropathic (n = 3), and lymphatic (n = 1). Fifteen patients had one or two organ systems involved, whereas 10 had three or more involved. With a median follow-up of 24 months (12-38), 17 of 25 patients (68%) are alive, and the median survival has not been reached. Thirteen of 21 patients (62%) evaluated 3 months posttransplant had complete responses of their clonal plasma cell disorders. Currently, two thirds of the surviving patients (11 of 17) have experienced improvements of amyloid-related organ involvement in all systems, whereas 4 of 17 have stable disease. The improvement in the median performance status of the 17 survivors at follow-up (0 [range, 0-3]) is statistically significant versus baseline (2 [range, 1-3]; P < . 01). Significant negative prognostic factors with respect to overall survival include amyloid involvement of more than two major organ systems and predominant cardiac involvement. Three patients have experienced relapses of the clonal plasma cell disorder at 12 and 24 months. Dose-intensive therapy should currently be considered as the preferred therapy for patients with AL amyloidosis who meet functional criteria for autologous transplantation.

Adult↗
PubMed1998

[Massive hepatic amyloidosis: a case of hepatic failure and haemorrhagic pancreatitis of fatal evolution].

Hepatic involvement is frequently in systemic amyloidosis but major clinical symptoms due to portal hypertension or liver failure are rare. To date all treatment modalities proven in these patients have failed. Thus, prognosis is dismal with progressive deterioration in liver function. We describe a patient with massive liver involvement by primary amyloidosis, manifested by severe intrahepatic cholestasis. Up to now 25 similar case have been reported in the English literature. In this subset of patients the most frequently recorded cause of death was renal failure accelerated by hyperbilirrubunemia. In our patient a downhill course was characterized by fatal renal hepatic failure after an hemoperitoneum, probably as a delayed complication of liver biopsy. Although not all authors agree, an added risk of bleeding after liver biopsy have been pointed out in hepatic amyloidosis. This kind of problem recommends the use of tissue other than liver, or a transjugular hepatic biopsy for diagnostic purposes. Also, of interest in the present cause is the autopsy findings of pancreatitis associated to pancreatic amyloidosis, a complication which have been described in previous reports.

Acute Disease↗
PubMed1998

Primary localization amyloidosis of the sublingual gland.

We here in present a very rare case of primary localized amyloidosis with amyloid A protein of the sublingual gland. It presented a tumorous appearance on the left oral floor. Pretreatment with potassium premanganate made biopsy specimens unstained by Congo red. Immunohistochemical staining for AA protein was positive. Systemic amyloidosis was ruled out based on clinical and laboratory examinations. The gastric and the labial salivary glands biopsy showed no amyloid deposits. As far as we know, this is the first case of primary localized amyloidosis with amyloid A protein of the oral cavity, and tumor-formed amyloidosis of the sublingual gland.

Amyloidosis↗
PubMedDate not supplied

Amyloidosis in rheumatoid arthritis. A study of 48 histologically confirmed cases.

In a group of 269 patients with rheumatoid arthritis histological examination demonstrated amyloidosis in 48 cases, viz. in 7 post mortem cases, in 28 rectal biopsies, in 12 renal biopsies and in one liver biopsy. Examination for amyloidosis was carried out in all patients who had proteinuria, otherwise in non-selected patients with definite rheumatoid arthritis. Even through rectal biopsy is a valuable screening method, it should not be overestimated, because in 12 patients with renal biopsy positive for amyloid, the foregoing rectal biopsies had been negative. According to our experience the most valuable method for diagnosis of amyloidosis in rheumatoid patients is renal biopsy, whereas synovial biopsy is the least conclusive. This paper, according to our knowledge, is the first report on observations of a regression of the inflammatory activity of rheumatoid arthritis and nephrotic syndrome as well as a complete morphological regression of amyloidosis.

Adult↗
PubMed1997

Transthyretin amyloidosis: a new mutation associated with dementia.

Familial transthyretin (TTR) amyloidosis commonly presents with peripheral neuropathy and involvement of visceral organs. In contrast, signs of central nervous system (CNS) involvement are exceptional. We report that members of a kindred affected by a slowly progressive dementia, seizures, ataxia, hemiparesis, and decreased vision without neuropathy have TTR amyloid deposits in the leptomeninges, the brain parenchyma, and the eye. This condition, previously labeled oculoleptomeningeal amyloidosis, is linked to a mutation at codon 30 of TTR gene, resulting in the substitution of valine with glycine in this family, TTR amyloid deposits were present in the leptomeninges, especially the leptomeningeal vessels, and in the subependymal regions of the ventricular system where they disrupted the ependymal lining and resulted in amyloid-glial formations protruding into and narrowing the ventricular system. Hydrocephalus and atrophy and infarction of cerebral and cerebellar cortexes were also present. Review of the literature shows that amyloid deposition in the leptomeninges is not uncommon in TTR amyloidoses clinically characterized by peripheral neuropathy and lack of CNS signs. The present kindred, which presented exclusively with signs of CNS involvement, expands the phenotype of TTR amyloidosis and raises questions concerning the mechanisms determining phenotypic expression in TTR familial amyloidosis.

Amyloid Neuropathies↗
PubMed2005

Current therapeutic strategies in cardiac amyloidosis.

Amyloidosis is a systemic disease in which clinical manifestations are caused by the replacement of normal tissue with insoluble amyloid fibrils. Cardiac involvement causes a restrictive cardiomyopathy and is associated with poor functional outcomes. Cardiac magnetic resonance imaging and measurement of B-type natriuretic peptide are particularly helpful in distinguishing restrictive cardiomyopathy from constrictive pericarditis, but a tissue biopsy is required to make the diagnosis of amyloidosis. Although standard treatment options for congestive heart failure may provide symptomatic relief in cardiac amyloidosis, prognosis remains dismal. Judicious diuretic use remains the mainstay of therapy, but achieving optimal fluid balance is difficult because patients are usually "preload dependent." Angiotensin-converting enzyme inhibitors in low doses are often helpful but may lead to orthostatic hypotension, particularly in patients who also have involvement of the autonomic nervous system. beta Blockers may be useful if given relatively early in the disease process, but should be used with caution in patients with advanced disease because they may exacerbate symptoms. Therapy aimed at the underlying disease process in primary systemic amyloidosis is based on treatment regimens used in multiple myeloma, such as melphalan and prednisone. These offer limited benefit when cardiac involvement is significant, but newer treatments, including the novel anthracycline 4'-iodo-4'-deoxydoxorubicin, potentially combined with autologous stem cell transplantation, offer some hope for the future.

Journal Article↗
PubMed2003

D18G transthyretin is monomeric, aggregation prone, and not detectable in plasma and cerebrospinal fluid: a prescription for central nervous system amyloidosis?

Over 70 transthyretin (TTR) mutations facilitate amyloidosis in tissues other than the central nervous system (CNS). In contrast, the D18G TTR mutation in individuals of Hungarian descent leads to CNS amyloidosis. D18G forms inclusion bodies in Escherichia coli, unlike the other disease-associated TTR variants overexpressed to date. Denaturation and reconstitution of D18G from inclusion bodies afford a folded monomer that is destabilized by 3.1 kcal/mol relative to an engineered monomeric version of WT TTR. Since TTR tetramer dissociation is typically rate limiting for amyloid formation, the monomeric nature of D18G renders its amyloid formation rate 1000-fold faster than WT. It is perplexing that D18G does not lead to severe early onset systemic amyloidosis, given that it is the most destabilized TTR variant characterized to date, more so than variants exhibiting onset in the second decade. Instead, CNS impairment is observed in the fifth decade as the sole pathological manifestation; however, benign systemic deposition is also observed. Analysis of heterozygote D18G patient's serum and cerebrospinal fluid (CSF) detects only WT TTR, indicating that D18G is either rapidly degraded postsecretion or degraded within the cell prior to secretion, consistent with its inability to form hybrid tetramers with WT TTR. The nondetectable levels of D18G TTR in human plasma explain the absence of an early onset systemic disease. CNS disease may result owing to the sensitivity of the CNS to lower levels of D18G aggregate. Alternatively, or in addition, we speculate that a fraction of D18G made by the choroid plexus can be transiently tetramerized by the locally high thyroxine (T(4)) concentration, chaperoning it out into the CSF where it undergoes dissociation and amyloidogenesis due to the low T(4) CSF concentration. Selected small molecule tetramer stabilizers can transform D18G from a monomeric aggregation-prone state to a nonamyloidogenic tetramer, which may prove to be a useful therapeutic strategy against TTR-associated CNS amyloidosis.

Amino Acid Sequence↗
PubMed1999

Influence of surgery on renal amyloidosis.

It is well known that renal amyloidosis (RA) leads to ESRD in a few years. This evolution may be accelerated by several factors such as steroids, renal vein thrombosis, infections or surgery. We report 22 patients (14M,8F) mean age = 41.6 years (13-72) with RA in whom surgery revealed or aggravated renal disease. The group I includes 15 patients with no previous history of renal disease and who developed oedema few days after surgery with acute renal failure in 5 of them. Proteinuria was present in all the cases with a nephrotic syndrome in 10. Percutaneous kidney biopsy (KB) showed renal amyloidosis in all patients (AA+ = 8 cases, AA- = 3 cases). Only 9 patients were followed-up (mean period = 40 months): 2 patients are stationary; 1 is on complete remission 2 are on HD and 4 died. The group II includes 7 patients with a previous history of nephropathy (Histologically proven amyloidosis: 3 CRF = 1, Oedema: 3). All these patients developed oedema few days after surgery with acute RF in 4 patients. KB performed in all of them showed RA (AA+ = 33, AA- = 1). 6 patients were followed up for a mean period of 11 months: 5 died, 1 patient is on HD. The influence of surgery on renal amyloidosis is often unforeseeable. It may have no effect on renal disease, but very often it reveals RA and sometimes dramatically aggravates the course of the disease with occurrence of irreversible CRF. The pathogenic role of surgery on RA is discussed.

Journal Article↗
PubMed2000

An Elderly Man With Progressive Dyspnea on Exertion and Atrial Fibrillation as Manifestations of Senile Cardiac Amyloidosis.

Senile cardiac amyloidosis is a form of amyloidosis seen more commonly in the elderly population. It was previously believed to have no functional significance, but more recent studies suggest that it is an important cause for cardiovascular morbidity and mortality in the elderly. The diagnosis may be challenging and it is important to have a high suspicion for this disease in the proper clinical setting. A patient with cardiac amyloidosis is presented in this paper to illustrate the clinical context in which one should consider this diagnosis. Information regarding diagnostic evaluation and a brief review of senile cardiac amyloidosis is presented. (c)2000 by CVRR, Inc.

Journal Article↗
PubMed1992

Amyloidosis cutis dyschromica. DNA repair reduction in the cellular response to UV light.

BACKGROUND: Amyloidosis cutis dyschromica, a special type of primary cutaneous amyloidosis, is assumed to be a congenital disorder and sun exposure is thought to be the major causal factor. Herein we report a case of this rare disease and DNA repair characteristics of UV damages in the fibroblasts derived from the patient. OBSERVATIONS: A 24-year-old Japanese woman showed hyperpigmented and hypopigmented xerotic lesions in sun-exposed skin since she was 10 years old; deposits of amyloid material were detected in the papillary dermis. The fibroblasts were hypersensitive to UV-B, but not so sensitive to UV-C. Unscheduled DNA synthesis of the patient's cells after UV-C exposure was lower than that of normal cells at 3 hours and both reached the same level at 6 hours. After UV-B exposure, unscheduled DNA synthesis of the patient's cells was lower than that of normal cells at least until 6 hours after UV exposure. CONCLUSION: Although the origin of amyloidosis cutis dyschromica is unknown, hypersensitivity to UV-B with possible DNA repair defects is suggested to be the cause of this disease.

Adult↗