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At least 1,225 records · Page 68Linked to original sources
PubMed2006

[Original case report of amyloidosis with pleural involvement: the role of echocardiography in the diagnosis].

INTRODUCTION: Amyloidosis is often difficult to diagnose and cardiac involvement worsens the prognosis. CLINICAL CASE: We report the case of a 72-year old man consulting for cardiac failure with pleural effusion. A restrictive cardiomyopathy was discovered by echocardiography, and amyloidosis was then suspected. First histological localization was pleural. Cardiac involvement was confirmed. The diagnosis was supported by digestive and cutaneous localizations. It was an AL amyloidosis. Treatment with melphalan and dexamethasone allowed stabilization during more than six months. DISCUSSION: This is an original case report, because of the first clinical signs (cardiac failure), the histological proof (pleural histology). Echocardiography is particularly helpful in internal medicine.

Aged↗
PubMed2006

[Pseudotumoral gastric amyloidosis].

INTRODUCTION: Localized gastric amyloidosis is rare. It should be considered in differentiation of gastric tumors, in which biopsy is the only means to confirm the diagnosis. CASE REPORT: A 56-year old male patient presented dysphagia and vomiting. A plastic linitis was suggested by endoscopic ultrasonography. Total gastrectomy and clearance of perigastric lymph nodes were performed. The postoperative pathological diagnosis determined the lesion to be localized gastric amyloidosis and no malignant tumor was found. No sign of recurrence has been found one year after surgical resection. DISCUSSION: Currently, surgical resection of pathological tissue and circumambient lymph nodes may be a preferable therapeutic strategy for the localized amyloidosis to prevent possible complications.

Amyloidosis↗
PubMed2006

Among therapy modalities of end-stage renal disease, renal transplantation improves survival in patients with amyloidosis.

The aim of this study was to investigate the results of renal transplantation in amyloidosis patients compared with those on hemodialysis. We compared a group of 25 patients with systemic amyloidosis and end-stage renal disease (ESRD) treated with renal transplantation with a control group of 30 patients with systemic amyloidosis and ESRD treated with hemodialysis. Overall 1-, 2-, and 5-year survival rates were 86.9%, 82.6%, and 78.2%, respectively, for patients, who had renal transplantations versus 60.7%, 50%, and 46.4%, respectively, for patients on hemodialysis treatments (P < .001). Among the control group 15 patients died at 9.4 +/- 7.5 months after starting hemodialysis. Among transplantation group five patients died during follow-up (mean 12.3 +/- 13.6 months); the major cause of death was infection. Only 18 patients experienced recurrences after renal transplantation; their 5-year survival rate was 84.2% versus 50% for patients who had no recurrence (P < .001). Patients with amyloid recurrence also had better long-term survival rates than patients in hemodialysis group (P < .001). In conclusion amyloidotic patients maintained on chronic dialysis have a high mortality rate. Better survival was noted for patients who had renal transplantations despite recurrences. These results encourage transplantation in amyloid renal end-stage disease.

Amyloidosis↗
PubMed2006

Primary localized AA type amyloidosis of urinary bladder: case report of rare cause of episodic painless hematuria.

A 45-year-old diabetic man presented with an episodic history of painless gross hematuria. He had had no previous urinary symptoms or any other medical problems. His physical examination, urine cytology, and computed tomography scan findings were normal. Cystoscopy demonstrated two nodular masses in the urinary bladder with a hemorrhagic mucosal surface. Biopsies revealed amyloidosis, and immunohistochemical staining of the specimens defined the process as amyloid AA (mostly seen in 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.

Amyloidosis↗
PubMed2005

[Nodular primary cutaneous amyloidosis associated with Sjögrens syndrome: presentation of a case].

Nodular primary cutaneous amyloidosis is the least frequent clinical form of the cutaneous amyloidoses. It may be associated with myeloproliferative disorders, as well as with systemic amyloidosis. Its association with other entities, such as Sjögren's syndrome, has recently been described. We present the case of a female patient with Sjögren's syndrome who developed nodular primary cutaneous amyloidosis.

Aged↗
PubMed1997

Signal-averaged electrocardiography in patients with AL (primary) amyloidosis.

One hundred thirty-three patients with biopsy-proven AL amyloidosis were studied with echocardiography, Holter recording, 12-lead electrocardiography, and signal-averaged electrocardiograms. Features from these tests were analyzed in relation to their effect on mortality. Late potentials were more frequent in patients with echocardiographic evidence of cardiac amyloidosis (31%) compared with patients with normal echocardiograms (9%, p < 0.003). One hundred six of the 133 patients died during follow-up, of which 34 were nonsudden cardiac deaths and 33 were sudden deaths. Abnormal echocardiograms and signal-averaged electrocardiograms were each predictive of all-cause cardiac death (p < 0.0001 ) and sudden cardiac death (p < 0.0001). Abnormal signal-averaged electrocardiograms were also independently predictive of sudden death in the subgroup of patients with an abnormal echocardiogram (p < 0.05). Thus late potentials are predictive of sudden death in patients with AL amyloidosis and provide independent prognostic information in patients with echocardiographic evidence of amyloid involvement.

Adult↗
PubMed2002

Usefulness of pulsed tissue Doppler imaging for evaluating systolic and diastolic left ventricular function in patients with AL (primary) amyloidosis.

To clarify whether pulsed tissue Doppler imaging at multiple left ventricular LV sites could help to explain the mechanism of congestive heart failure (CHF) in patients with primary amyloidosis, we examined 86 consecutive patients with primary amyloidosis confirmed by biopsy (group I, 31 patients without cardiac involvement; group II, 31 patients with evidence of heart involvement but no CHF; and group III, 24 patients with heart involvement, clinical CHF, and normal fractional shortening >28%). Peak early diastolic myocardial velocities in group II were significantly lower than those in group I, and the values in group III were also significantly lower than those in group II at most sites. In contrast to diastolic abnormalities, peak systolic wall motion velocities in group III were significantly lower than those in group II, but there were no significant differences between groups I and II. Thus, cardiac amyloidosis is characterized by an initial impairment in early cardiac relaxation, whereas CHF is associated with an impairment of peak systolic wall motion velocities, most prominently seen in the longitudinal axis. This systolic dysfunction can be detected by pulsed tissue Doppler imaging, even when ejection fraction is in the normal range.

Amyloidosis↗
PubMed1996

Electrocardiography and Doppler echocardiography in secondary (AA) amyloidosis.

The fibrils in AL and AA amyloidosis, although similar in appearance, have different biochemical composition and staining characteristics. Whereas electrocardiographic and echocardiographic features of heart involvement in AA amyloidosis resemble those for AL amyloidosis, our findings support the concept that the constituent amyloid fibrils may play a decisive role in the clinical pattern and significance of heart infiltration.

Adult↗
PubMed2000

Chorioretinal involvement in primary systemic nonfamilial amyloidosis.

PURPOSE: To report a case of primary systemic nonfamilial amyloidosis studied by fluorescein angiography and indocyanine green angiography. METHODS: Case report. A 59-year-old woman with primary systemic nonfamilial amyloidosis presented bilateral diffuse deep hemorrhages and pigmentary mottling at the posterior pole. RESULTS: On fluorescein angiography bilateral diffuse areas of hypofluorescence were present. Indocyanine green angiography showed large hypofluorescent areas with hypofluorescent lines in the midperiphery and hyperfluorescent streaks in the peripapillary area. CONCLUSIONS: In this case of primary systemic nonfamilial amyloidosis, diffuse bilateral chorioretinal abnormalities included hemorrhages and pigmentary mottling at the posterior pole, with hypofluorescent areas on fluorescein angiography and indocyanine green angiography, as well as hypofluorescent lines in the midperiphery.

Amyloidosis↗
PubMed2002

Transthyretin Ser-44 mutation in a case with vitreous amyloidosis.

PURPOSE: To report a case of vitreous amyloidosis associated with a transthyretin Ser-44 mutation. METHODS: Interventional case report. A 44-year-old Japanese woman had a 2-month history of visual disturbance in both eyes. The vitreous and conjunctival specimens were subjected to histopathological examination. DNA was isolated from peripheral blood cells of the patient. The transthyretin gene was amplified and directly sequenced. RESULTS: The vitreous and conjunctiva specimens showed typical light microscopic features of amyloidosis. Direct sequencing of the transthyretin gene revealed a single base-pair substitution, which results in an amino acid substitution at position 44, phenylalanine to serine (transthyretin Ser-44). CONCLUSION: Transthyretin Ser-44 may cause vitreous amyloidosis.

Adult↗
PubMed1997

Ptosis secondary to amyloidosis of the tarsal conjunctiva and tarsus.

PURPOSE: To report a case of chronic unilateral ptosis in a 63-year-old, otherwise healthy woman with visual restriction. METHODS: We performed a biopsy on an enlarged tarsal plate that we believed had caused ptosis. A levator aponeurotic advancement was performed subsequently. RESULTS: Histologic and ultrastructural examination of the biopsy specimen disclosed amyloidosis of the tarsal conjunctiva and tarsus. There was no evidence of systemic amyloidosis. CONCLUSION: Localized amyloidosis involving the tarsal conjunctiva and tarsus is a rare cause of chronic eyelid thickening and ptosis.

Amyloidosis↗
PubMed2003

Association of aortic atherosclerosis with cerebral beta-amyloidosis and learning deficits in a mouse model of Alzheimer's disease.

High fat/high cholesterol diets exacerbate beta-amyloidosis in mouse models of Alzheimer's disease (AD). It has been impossible, however, to study the relationship between atherosclerosis and beta-amyloidosis in those models because such mice were on atherosclerosis-resistant genetic backgrounds. Here we report the establishment of AD model mice, B6Tg2576, that are prone to atherosclerosis. B6Tg2576 mice were produced by back-crossing Tg2576 mice, an AD mouse model overexpressing human amyloid beta-protein precursor with the Swedish double mutation, to C57BL/6 mice, a strain susceptible to diet-induced atherosclerosis. An atherogenic diet induced aortic atherosclerosis and exacerbated cerebral beta-amyloidosis in B6Tg2576 mice. Compared with age-matched non-transgenic littermates, B6Tg2576 mice developed significantly more diet-induced aortic atherosclerosis. Unexpectedly, normal diet-fed B6Tg2576 mice also developed fatty streak lesions (early atherosclerosis) in the aorta. The aortic atherosclerotic lesion area positively correlated with cerebral beta-amyloid deposits in B6Tg2576 mice on both atherogenic and normal diets. Furthermore, behavioral assessments demonstrated that B6Tg2576 mice fed an atherogenic diet had more spatial learning impairment than those fed a normal diet. Our results suggest that synergistic mechanisms may be involved in the pathogenesis of atherosclerosis and AD. These findings may have important implications in the prevention and treatment of cardiovascular diseases as well as AD.

Aging↗
PubMed2003

Advanced glycation end products and receptor for advanced glycation end products in AA amyloidosis.

Advanced glycation end products (AGEs) may be involved in either amyloidogenesis or complications related to amyloid. We hypothesized that AGEs may influence the pathogenesis of AA amyloidosis, and investigated the spatial and temporal relationship between AGEs, carboxy methyl lysine (CML), the AGE receptor (RAGE), and AA amyloid in humans and mice. Specimens from patients with AL and ATTR amyloidosis served as a control. Using immunohistochemistry, AGEs, CML, and RAGE were found within amyloid deposits, more commonly in AA amyloid than in AL amyloid and not in ATTR amyloid. Western blotting showed that multiple proteins (between 12 and >60 kd) are modified, but not the AA amyloid fibril protein itself. In the murine model of AA amyloidosis, we found a marked interindividual variability with respect to local and systemic CML levels, as well as to splenic RAGE transcription. Serum levels of CML correlated with the duration of the inflammatory response but not with amounts of splenic RAGE mRNA. Other as yet unidentified variables, especially of the heterogeneous group of AGEs, probably modulate transcription of RAGE and influence amyloidogenesis. CML serum levels, in turn, may prove useful in predicting patients at risk.

Adult↗
PubMed2001

Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis.

Primary amyloidosis is a fatal disorder characterized by low numbers of clonal plasma cells in the bone marrow and the systemic deposition of light chain fragments in the form of amyloid. The molecular pathobiology of amyloidosis is primarily unknown. Recently, a novel karyotypically undetectable t(4;14)(p16.3;q32) translocation has been identified in approximately 20% of multiple myeloma patients. The translocation leads to the apparent deregulation of two genes located on 4p16.3, the fibroblast growth-factor receptor 3 (FGFR3), and the putative transcription factor multiple myeloma SET domain (MMSET), and to the generation of IGH/MMSET hybrid transcripts. In this study, we investigated the presence of the t(4;14) translocation in 42 AL patients using a reverse transcriptase-polymerase chain reaction assay for the detection of IGH/MMSET transcripts. Chimeric transcripts were found in six patients (14%) and were consistent with a 4p16.3 breakpoint involving intron 3 and juxtaposing IGH regions to exon 4. In three of these cases, hybrid transcripts juxtaposing IGH regions to exon 5 were also observed and were probably the result of an alternative splicing skipping exon 4. Because all of the fusion transcripts (six of six) excluded exon 3, the first translated MMSET exon, only putative 5' truncated MMSET proteins could be generated. In conclusion, our results demonstrate that the t(4;14)(p16.3;q32) translocation is a recurrent genetic lesion in primary amyloidosis.

Aged↗
PubMed2000

A feline model of experimentally induced islet amyloidosis.

The study of the pathogenesis of islet amyloidosis and its relationship to the development and progression of type 2 diabetes mellitus has been hampered by the lack of an experimentally inducible animal model. The domestic cat, by virtue of the fact that it is one of the few species that spontaneously develop a form of diabetes mellitus that closely resembles human type 2 diabetes, including the formation of amyloid deposits derived from islet amyloid polypeptide (IAPP), was considered to be an excellent candidate species in which to attempt to develop a nontransgenic animal model for this disease process. To develop the model, 8 healthy domestic cats were given a 50% pancreatectomy, which was followed by treatment with growth hormone and dexamethasone. Once a stable diabetic state was established, cats were randomly assigned to groups treated with either glipizide or insulin at doses appropriate to control hyperglycemia. Cats were maintained on this treatment regimen for 18 months and then euthanized. Based on light microscopic examination of Congo red-stained sections of pancreas, all cats were negative for the presence of islet amyloid at the time of pancreatectomy. At the end of the study all 4 glipizide-treated cats had islet amyloid deposits, whereas only 1 of 4 insulin-treated cats had detectable amyloid. In addition, the glipizide treated cats had threefold higher basal and fivefold higher glucose-stimulated plasma IAPP concentrations than insulin-treated cats, suggesting an association between elevated IAPP secretion and islet amyloidosis. Blood-glycosylated hemoglobin concentrations were not significantly different between the two treatment groups. This study documents for the first time an inducible model of islet amyloidosis in a nontransgenic animal.

Amyloid↗
PubMed2000

Mediastinal amyloidosis.

Systemic amyloidosis is an unusual cause of mediastinal lymphadenopathy. Thoracic surgeons are often called upon to establish a diagnosis in patients with mediastinal lymphadenopathy, so familiarity with mediastinal amyloidosis is valuable. We report our experience with 2 patients, and discuss the diagnostic role of mediastinoscopy and other less invasive biopsy techniques. General anesthesia may pose significant risks in this disease; nonoperative biopsy techniques should be considered if the diagnosis of amyloidosis is suspected.

Aged↗
PubMed2003

APOA1 related amyloidosis: a case report and literature review.

OBJECTIVES: Amyloidosis results from local or systemic extracellular deposition of insoluble protein fibrils and is associated with certain rare mutations in APOA1 encoding apolipoprotein (apo) A-I. DESIGN AND METHODS: In a patient with renal-predominant amyloidosis with neuropathy, we found the APOA1 G26R mutation. CONCLUSIONS: While the spectrum of APOA1 mutations provides no particular mechanistic insights, molecular diagnosis may still be important due to clinical differences between amyloidosis resulting from mutation in APOA1 vs. other genes.

Adult↗
PubMed1997

Long-term survival in systemic amyloid A amyloidosis complicating Crohn's disease.

Systemic AA amyloidosis is a serious and potentially fatal complication of Crohn's disease. Proteinuria is the most common presentation, but the diagnosis can only be confirmed by showing amyloid in the tissues and is often delayed. Recently, scintigraphy has been developed using 123I-serum amyloid P component (SAP) as a noninvasive and quantitative alternative to histology in which this nuclear medicine tracer specifically targets amyloid deposits in vivo. This study investigates 4 patients with Crohn's disease who, despite having only low-grade clinical activity, developed progressive AA amyloidosis and renal failure. One patient died while receiving hemodialysis, but in the other 3 cases, renal transplantation and standard antirejection therapy were associated with remission of inflammatory activity. Serial SAP scintigraphy showed regression of amyloid in 2 of these patients and absence of progression in the other. These case studies show the dynamic but variable behavior of AA deposits in different patients and show the use of radiolabeled SAP for diagnosis and monitoring of amyloidosis in Crohn's disease.

Adolescent↗