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PubMed2005

[From familial Mediterranean fever to amyloidosis].

The progression of familial Mediterranean fever is marked by the recurrence, at varying intervals, of acute flares that regress spontaneously. Prognosis, which depends on the occurrence of amyloidosis, has been transformed by colchicine treatment. Incidence of amyloidosis is higher in certain ethnic groups (Jews from North Africa, Turks) and depends on by the specific MEFV mutation. Amyloid is composed of clusters of protein strands identical to the AA protein of secondary amyloidosis and infiltrates the walls of all arterioles except those of the central nervous system. The earliest and most consistent localization is in the kidney, where it develops over several years and in 4 stages--preclinical (latency), proteinuric, nephrotic and uremic--before concluding in end-state renal failure. Before the advent of colchicine, dialysis and transplantation, only renal amyloidosis caused clinical manifestations and lethal complications; any amyloidosis at any other sites remained latent. Prolonged survival with hemodialysis and kidney transplantation now leaves time for manifestation of these other localizations, such as infiltration into the intestines causing malabsorption, or potentially lethal cardiac lesions. Treatment of familial Mediterranean fever is based on the continuous administration of colchicine, which at the average dose of 1 to 2 mg per day can prevent flares or at least reduce their frequency or intensity. Systematic use of colchicine also prevents the onset of amyloidosis, even in the rare cases where it cannot prevent flares. These data fully justify the systematic use of colchicine for continuous prophylactic treatment from diagnosis and even after kidney transplantation, to prevent recurrence of the grafted kidney or extension to other organs. The curative efficacy of colchicine on flares is debatable, although several studies report positive results against progression of early amyloidosis.

Acute Disease↗

PubMed1998

Duration of pulmonary venous atrial reversal flow velocity and mitral inflow a wave: new measure of severity of cardiac amyloidosis.

Transmitral Doppler flow patterns of patients with cardiac amyloidosis evolve from an early impaired relaxation to an advanced restrictive pattern. This reflects increasing severity of diastolic dysfunction and hence left ventricular filling pressures. The duration of the pulmonary venous atrial reversal flow was recently shown to exceed that of the mitral inflow A wave in patients with left ventricular end-diastolic pressure greater than 15 mm Hg. The objective of this study was to assess the utility of this index as a measure of the severity of cardiac amyloidosis. Comprehensive transthoracic 2-dimensional and pulsed-wave Doppler echocardiograms of the pulmonary venous and transmitral flows were made of 23 patients (10 women) with biopsy-proven diagnosis of primary systemic amyloidosis and of 49 subjects as age-matched normal controls. The amyloidosis group was divided into non-restrictive and restrictive subgroups on the basis of the patients' transmitral inflow deceleration time (>150 and < or =150 ms, respectively). The durations of the pulmonary venous atrial reversal and mitral inflow A wave were measured, and the differences between the flow durations were compared with the control and published data in the nonrestrictive and restrictive groups. The mean duration of the pulmonary venous atrial reversal was significantly longer in the amyloid than the control group (P < .01). The mean duration of the mitral inflow A wave was significantly shorter in the restrictive group than both the nonrestrictive and the control groups (P < .05). The duration of the pulmonary venous atrial reversal exceeded that of the mitral inflow A wave in all patients with cardiac amyloidosis. The difference in duration between pulmonary venous atrial reversal and mitral inflow A wave was significantly greater in the amyloidosis group compared with the normal group, and this index varied significantly within the amyloid group between the abnormal relaxation and the restrictive groups. The difference in the duration between the pulmonary venous atrial reversal and the mitral inflow A wave is a reliable index of diastolic function and can be used to assess the severity of cardiac amyloidosis.

Adult↗

PubMed1988

Oral biopsy and fine needle aspiration biopsy from subcutaneous fat in diagnosis of secondary amyloidosis.

The reliability of oral biopsy (OB) and fine needle aspiration biopsy from subcutaneous fat (FNAB) in the diagnosis of secondary amyloidosis was compared using the specimens taken from 124 patients, 107 adults and 17 children, suffering from long lasting rheumatoid diseases. 41 of the patients (33.0%) were shown to be positive for amyloidosis with one or both methods. OB was positive in 28, FNAB in 33, and both methods in 20 patients. In addition, rectal biopsy (RB) was positive in 14 out of 43 cases, where it had been taken. In 3 patients, this method was positive for amyloidosis, although OB and FNAB were negative. Thus, the total number of patients positive for amyloidosis in this study was 44 (35.5%). The mean duration time of the disease was significantly longer in the adult and child patient groups with amyloidosis than in those without amyloidosis. The diagnostic sensitivity of OB was 64%, and that of FNAB 75%. The results speak for the use of FNAB as the first choice method in the diagnosis of secondary amyloidosis.

Adipose Tissue↗

PubMed1994

Diagnosis and monitoring of amyloidosis.

The diagnosis of systemic amyloidosis is only occasionally suspected on clinical grounds alone and is more often considered when an associated condition, such as a chronic inflammatory disease or monoclonal gammopathy, is present. No blood test is diagnostic of amyloid although routine haematological and biochemical investigations have important roles in defining the underlying disease process in amyloidosis, and evaluating organ function. A number of non-invasive investigations including echocardiography, electrocardiography and soft tissue scintigraphy with bone-seeking tracers give characteristic results in some patients with amyloidosis, but are non-specific. The diagnosis can only be confirmed by demonstrating the presence of amyloid deposits in the tissues. Histology is the traditional method in routine clinical practice and is sensitive for revealing microscopic deposits and permits immunotyping of fibril proteins. Disadvantages are that biopsies are invasive, open to sampling error and can only give limited information on the distribution and extent of amyloid deposits in an individual. Scintigraphic and turnover studies with radioiodinated SAP are new specific methods for confirming the presence of amyloid in tissues, based on the affinity of SAP for all types of amyloid fibril. Labelled SAP scans survey the whole body macroscopically for the presence and anatomical distribution of amyloid in a quantitative manner, and SAP turnover studies provide information on the whole body amyloid load. Although the availability of SAP scintigraphy presently remains restricted, the technique has been used in over 400 patients with amyloid in prospective studies, and has already provided a number of new insights into the natural history of amyloidosis. These include the observation that there is a consistently poor correlation between the quantity of amyloid in an organ and the resulting degree of functional impairment. Amyloid deposits accumulate at rates which vary substantially between different organs in a single subject and between individuals with similar types of amyloidosis, even when the rates of amyloid fibril precursor protein supply are apparently similar. In some patients amyloid accumulation may plateau without any measurable alteration in the precursor supply. In patients with amyloidosis in whom the supply of fibril precursors is reduced, either as a result of therapy directed towards the underlying process or through a natural remission, substantial regression of amyloid frequently occurs. This has been observed in patients with AA, AL and variant TTR-associated amyloidosis, and is usually associated with clinical benefits. In some such cases, however, the function of affected organs may continue to deteriorate despite halting the accumulation of amyloid, presumably because irreversible structural damage has already occurred.(ABSTRACT TRUNCATED AT 400 WORDS)

Amyloid↗

PubMed2003

Amyloidosis in macaques in adler primatological center.

Results of pathomorphological studies of 133 amyloidosis cases in macaques of 3 species (M. mulatta, M. nemestrina, and M. fascicularis) in the Adler Primatological Center are presented. A relationship between the development of amyloidosis and animal age is detected and the incidence of involvement of various organs is determined. Generalized and isolated forms of amyloidosis are described, the most incident of which (36.8%) was hepatic amyloidosis. Simian and human amyloidosis are compared. Amyloidosis in macaques can be used as the model process for studies of amyloidosis in humans.

Amyloidosis↗

PubMed2001

Spontaneous amyloidosis in twelve chimpanzees, Pan troglodytes.

Spontaneous amyloidosis was diagnosed in 11 male and 1 female chimpanzees and confirmed histologically and immunohistochemically. The chimpanzees were > or = 15 years of age when first diagnosed and averaged 22.4 years of age. The average survival time after diagnosis of systemic amyloidosis was 1.86 years with a standard deviation of 4.06 years (n = 7). The chimpanzees with amyloidosis were asymptomatic except for hepatomegaly, which became more detectable with age. Significant increases in clinical chemistry values, as compared with referenced normals and established normals, of blood urea nitrogen (BUN), asparate aminotransferase (AST), gamma-glutamyltransferase (GGT), globulin, total protein, creatinine phosphokinase (CPK), sedimentation rate, and triglycerides were found in animals 7 years of age or older with amyloidosis. These serum chemistry values, while increased in chimpanzees with amyloidosis, were generally within normal limits. Immunohistochemistry for both amyloid A protein and amyloid P component-labeled extracellular amyloid in all chimpanzees with amyloidosis was determined. Amyloid was deposited primarily in the liver. Amyloidosis in the chimpanzee is a chronic, intractable, progressive, fatal disease, and appears to be similar to secondary amy loidosis in other species.

Amyloidosis↗

PubMed1999

Echocardiographic features of primary, secondary and familial amyloidosis.

BACKGROUND: Currently recognized types of amyloidosis include primary, familial and secondary, each of which may affect the heart. There may be differences in the heart response to the deposition of amyloid fibrils in these three forms of the disease. MATERIALS AND METHODS: Over a period of 10 years (1985-95), 28 consecutive patients with primary, 11 with secondary and 17 with familial amyloidosis were studied at the Departments of Cardiology of Laiko and Hammersmith Hospitals. The diagnosis of amyloidosis was confirmed by biopsies of subcutaneous fat, rectum, kidney, bone marrow, gum or sural nerve. Diagnosis of cardiac involvement was based on typical electrocardiographic and echocardiographic findings. RESULTS: The left ventricular fractional shortening (%) was reduced in primary compared with familial or secondary amyloidosis (29.8 +/- 10.2 vs. 36.2 +/- 6.5 vs. 36 +/- 5.9, P < 0.05). The transmitral flow velocity pattern was compatible with abnormal relaxation in most patients in the three groups [primary 16 (57%), familial 11 (64. 7%), secondary 6 (54.5%), P = NS]. Right ventricular systolic dysfunction (right ventricular dP/dt < 220 mmHg s-1 or tricuspid annulus systolic excursion < 10 mm) was present in 8 (28.6%), 2 (11. 8%) and 0 patients. Patients with primary amyloidosis were followed up for 15 +/- 6 months. There were 12 deaths, and repeat echocardiography in the survivors revealed a significant deterioration of left ventricular systolic function (fractional shortening = 23.6% +/- 8.8%, P < 0.05 vs. baseline). CONCLUSION: Primary amyloidosis is characterized by more severe cardiac involvement than the familial or secondary amyloidosis and has an ominous course.

Adult↗

PubMed2001

Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-II gene.

BACKGROUND: Although apolipoprotein A-II (apoA-II) associated amyloidosis has been described in the senescent accelerated mouse (SAM) model of aging, so far there has been no report of human apoA-II amyloidosis except for a recent report of renal amyloidosis resulting from a stop-codon to glycine mutation of apoA-II. The mechanisms of amyloid formation in human apoA-II amyloidosis are not clear. METHODS: A 46-year-old Caucasian male with proteinuria noted at 42 years of age was studied. Renal biopsy revealed amyloid deposition in glomeruli. DNA analysis of genes known to be associated with hereditary renal amyloidosis revealed no abnormalities. To elucidate the type of his amyloidosis, apoA-II gene and plasma apoA-II were examined. RESULTS: DNA analysis revealed heterozygosity for a G to C transversion at the second position of the stop-codon of apoA-II gene, suggesting a stop to serine substitution at codon 78. Western blot analysis and amino acid sequence analysis of the patient's plasma apoA-II showed both normal apoA-II and variant apoA-II with a 21-amino acid residue extension at the C-terminus. CONCLUSIONS: These results indicate that the patient's amyloid fibrils were derived from apoA-II and the amyloidogenesis is likely to be closely linked to the peptide extension at the C-terminus of variant apoA-II. The pathogenesis of human apoA-II amyloidosis is different from that of SAM.

Amino Acid Sequence↗

PubMed2001

Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication.

BACKGROUND: The recent identification of genes responsible for syndromes of periodic fever with amyloidosis has opened the way to a molecular diagnosis of hereditary AA amyloidosis. METHODS: A Belgian woman presented for genetic counseling. Three first-degree relatives had a diagnosis of renal amyloidosis with a history of recurrent fever and inflammatory episodes. Medical records and pathological specimens were obtained from all physicians who had been in charge of her three relatives. Immunohistochemical staining was performed on paraffin-embedded material. A mutation search was performed in the MEFV (Mediterranean fever) and tumor necrosis factor receptor 1 (TNFR1 or TNFRSF1A) genes causing familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively. RESULTS: The family history was consistent with autosomal-dominant transmission of periodic fever with arthralgias, abdominal pain, and eventual AA amyloidosis involving the kidneys, digestive tract, and thyroid. Recurrent amyloidosis in kidney graft was demonstrated in one patient and was suspected in the other. A novel heterozygous mutation (C55S) in TNFRSF1A was identified in the affected patient available for genetic testing but not in the asymptomatic woman requiring counseling. No mutation was detected in MEFV. CONCLUSIONS: We report a novel mutation (C55S) in TNFRSF1A, resulting in autosomal-dominant periodic fever and AA amyloidosis. This condition, known as TRAPS, should be added to the differential diagnosis of hereditary renal amyloidosis, with obvious implications for management and genetic counseling.

Adult↗

PubMed2003

A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis.

BACKGROUND: Variant forms of lysozyme, a ubiquitous bacteriolytic enzyme, are known to lead to hereditary non-neuropathic renal amyloidosis and, so far, three different mutations of the lysozyme gene have been reported. In this study, we report a novel lysozyme variant, Phe57Ile, associated with renal amyloidosis in three patients in one Italian Canadian family. METHODS: The proband was a 52-year-old woman who developed renal failure at the age of 42 years. Renal biopsy demonstrated replacement of glomeruli by amyloid. Her younger sister and her younger daughter who underwent renal transplantation also had renal amyloidosis. The proband's older daughter and her niece were in good health. To elucidate pathogenesis of this hereditary renal amyloidosis, DNA analyses of the lysozyme gene, including single strand confirmation polymorphism, direct DNA sequence, and restriction fragment length polymorphism analyses, were performed. RESULTS: DNA analyses of the lysozyme gene revealed a T to A transversion at the first position of codon 57 of the lysozyme gene in the proband, her sister, and her affected and unaffected daughters, indicating a replacement of Phe by Ile at residue 57. In addition, DNA sequencing demonstrated a C to A transversion at the second position of codon 70, denoting a replacement of Thr by Asn at residue 70, in the proband's sister and her niece. Thus, the proband's sister is compound heterozygous for the Phe57Ile and Thr70Asn alleles. CONCLUSION: Distinctive clinical features in patients of this family are nephropathy due to renal amyloidosis. Our results indicate that the novel lysozyme variant Phe57Ile is associated with renal amyloidosis in this family. From our results, a clear relation between the Thr70Asn polymorphism and renal amyloidosis could not be demonstrated.

Amyloidosis↗

PubMed2006

Autologous stem cell transplantation and IgM amyloidosis.

High dose chemotherapy (HDC) followed by autologous stem cell transplant (ASCT) is an accepted form of treatment for patients with AL amyloidosis. The purpose of the current study is to review the outcomes of IgM AL amyloidosis patients treated with high dose chemotherapy and autologous stem cell transplant and compare them to the outcomes of all AL amyloidosis subtypes treated similarly. We retrospectively reviewed the pretransplant characteristics, conditioning regimens and response to transplant of all twelve IgM AL amyloidosis patients who were transplanted at the Mayo Clinic between May 1999 and August 2005. Transplant related mortality was low at 8%. The overall hematologic response rate was 89%. The organ response rate was 67%. Overall median survival has not been reached as eleven patients are still alive. IgM AL amyloidosis patients appear to have similar outcomes after HDC and ASCT as other subtypes of AL amyloidosis suggesting that this therapy is an acceptable form of treatment for patients with IgM amyloidosis, and should be considered as a first line treatment option.

Aged↗

PubMed2006

Localized oral amyloidosis of the palate.

BACKGROUND: Amyloidosis is a rare disease with multifactorial pathogenesis. Localized amyloidosis affecting the head and neck region is an uncommon and benign process, which has almost no clinical consequences. The most reported characteristic features of localized oral amyloidosis appear as multiple soft nodules of the tongue, lip and cheek. METHODS: We report the case of a 68-year-old woman suffering from a primary localized amyloidosis presenting as a purple patch on the palate. CONCLUSIONS: The presence of systemic amyloidosis or underlying plasma cell dyscrasia have to be ruled out in patients presenting with a diagnosis of amyloidosis of the oral mucosa. If a primary localized amyloidosis is proven, the surgical therapy may be useful to eliminate a functional impairment.

Aged↗

PubMed2001

The hormonal and radiological evaluation of adrenal glands, and the determination of the usefulness of low dose ACTH test in patients with renal amyloidosis.

Amyloidosis is a multisystem disease which may cause organ loss. Renal involvement is the most common clinical problem in amyloidosis, however involvement of endocrin organs is possible. In this study to assess adrenocortical function and to evaluate the usefulness of low dose ACTH test in patients with renal amyloidosis, we determined cortisol, 17-hydroxyprogesteron (17-OHP) and 11-deoxycortisol (11-DOC) responses to both 1 microg and 250 microg Synacthen. We also determined the size of adrenal glands radiologically by using computerized tomography. Twenty one patients with renal amyloidosis and 16 healthy subjects for hormonal evaluation, and 20 patients with renal amyloidosis and 22 healthy subjects for radiologic evaluation were included in the study. In four patients (19%) peak serum cortisol levels following stimulation with the low dose of Synacthen were less than 20 microg/dL (550 nmol/L). Two of them had also subnormal cortisol response to the 250 microg Synacthen stimulation test. Basal and stimulated levels of 11-DOC were lower than those of control values (p=0.000 and p<0.01 respectively). The mean 11-DOC responses to stimulation with 1 microg Synacthen were also significantly lower than the values obtained after the simulation with 250 microg Synacthen (p<0.01 and p=0.000). Cortisol responses to the stimulation with 250 microg Synacthen were also lower than the control responses (p<0.05). 17-OHP responses were similar to the control values in both tests. In the radiological evaluation the mean maximum width of right adrenal glands and the mean anterior and maximum width of left adrenal glands were significantly greater in the patient group (p<0.01). In conclusion, adrenal involvement and adrenal insufficiency is common in amyloidosis. Low 11-DOC levels in amyloidosis is a new finding and further detailed studies is required to explain its cause.

17-alpha-Hydroxyprogesterone↗

PubMed2002

Bronchiectasis-related amyloidosis as a cause of chronic renal failure.

Bronchiectasis is defined as acquired and permanent abnormal dilation and destruction of the bronchial walls. Secondary amyloidosis is a disorder characterized by the deposition of amyloid A (AA) in multiple organs and tissues in the body. End-stage renal disease (ESRD) secondary to bronchiectasis-related amyloidosis has only been mentioned in case reports. Little is known about the complications of bronchiectasis-related amyloidosis and the outcomes in patients who develop ESRD due to amyloid deposition in the kidneys. The aim of this study was to identify the clinical characteristics of this patient group, and to report the outcomes of these cases relative to bronchiechtasis type. We assessed the records of 40 patients with AA-type amyloid nephropathy and ESRD who were on hemodialysis (HD) at Baskent University Hospital between 1997 and 2000. The diagnosis of amyloidosis was based on histopathological findings in kidney, rectum, bone marrow, lymph node, thyroid, bladder, liver, and stomach biopsies. Bronchiectasis was diagnosed on the basis of history and findings on physical examination, chest X-ray, and thoracic high-resolution computerized tomography (HRCT). The patients' records were retrospectively evaluated for cause of secondary amyloidosis, and cases with causes other than bronchiectasis were excluded. Secondary amyloidosis due to bronchiectasis and recurrent pulmonary infection was identified in 40% (16 patients) of the 40 patients. For each of these 16 cases, we recorded patient age, duration of bronchiectasis, duration of HD, amount of lung involvement, and biopsy site(s). The means for age, duration of bronchiectasis, and duration of HD in the 16 patients were 50.6 +/- 13.5 years, 22.18 +/- 12.02 years (range, 6-42 years), and 30.81 +/- 36.94 months (range, 4-144 months), respectively. The most common biopsy site was the rectum (n = 8). Thoracic HRCT revealed cystic bronchiectasis in 8 cases (50%). Four of these 8 patients (25% of the group of 16) died from sepsis within 3-year follow-up period. Two of the four patients who died had bilateral cystic bronchiectasis, and the other two had unilateral cystic bronchiectasis. In the other eight patients in the group, thoracic HRCT showed chronic fibrotic changes in the pulmonary parenchyma and minimal traction bronchiectasis. Four of these patients exhibited apical fibrosis and bronchiectasis (25% of the group of 16), and these radiological findings were considered sequelae of previous tuberculosis infections. In conclusion, chronic respiratory infections and associated bronchiectasis remain a serious problem in Turkey due to insufficient prevention, diagnosis, and treatment. It is important that patients with progressive cystic and diffuse bronchiectasis be followed carefully, as they may develop amyloidosis and ESRD in time. Also, the clinical course in patients with cystic bronchiectasis may be worse than that in other types of bronchiectasis due to complicating pulmonary infections.

Adult↗

PubMed1986

Experimental systemic amyloidosis induced by immunization with syngeneic organ extracts in mice.

Systemic amyloidosis was induced consistently in mice by intramuscular injection of syngeneic organ (liver and kidney) extracts mixed with CFA six times at weekly intervals. Syngeneic organ extract with CFA also induced amyloidosis of a lesser degree. All three strains of mice (C57BL/6, C3H/He, and BALB/c) injected with a syngeneic liver extract mixed with CFA developed systemic amyloidosis; the most prominent amyloid deposition occurred in C57BL/6 (B6) mice, followed by C3H/He and BALB/c. The amyloid substance deposited in these animals was identified as mouse amyloid A protein (AA). Furthermore, an organ specificity of the immunogen in inducing amyloidosis was suggested with liver and kidney extracts. Primed spleen cells of the immunized B6 mice were fractionated by a nylon-wool column and injected to normal recipient mice via the tail vein. Organs of the recipient mice developed systemic amyloidosis 8 wk after the transfer, and the most prominent histological changes occurred in the recipient mice given nylon-wool column adherent spleen cells. Using anti-Thy-1,2; Ly-1; Ly-2, antibody and complement, it was suggested that T cells, especially Ly-1,2,3+ T cell populations in the primed nylon-wool adherent cells, play an important role in the induction of systemic amyloidosis. It was shown further that the amyloidosis-inducing substance in liver extract was composed of unstable proteins or protein-bound substance.

Amyloidosis↗

PubMed1986

Bone marrow morphology and immunology in systemic amyloidosis.

Bone marrow specimens from 45 patients presenting with signs and symptoms of systemic amyloidosis were studied to assess the degree and pattern of plasmacytosis and its clonality, using immunohistologic technics. Twenty-four of 35 patients with primary amyloidosis had monoclonal plasma cells, while 11 had polyclonal plasma cells. Five patients with secondary amyloidosis and five with familial amyloidosis had a mild polyclonal plasmacytosis. The authors' data suggest that there may be two subgroups of patients with primary amyloidosis: those with monoclonal plasmacytosis representing part of the spectrum of plasma cell dyscrasias, and those in which a monoclonal plasmacytosis cannot be documented. Immunohistologic staining of bone marrows in patients with amyloidosis may be of future value in characterizing subtypes of amyloidosis and evaluating their relationship to multiple myeloma.

Amyloidosis↗

PubMed1992

Outcome of patients with secondary amyloidosis in dialysis treatment.

Between the years 1974 and 1987, 37 patients with secondary amyloidosis entered dialysis treatment at our department. All had amyloidosis secondary to chronic arthritic disease (35) or to other chronic inflammatory causes (2). Only two patients were maintained on CAPD throughout follow-up; 12 patients (32%) received a kidney transplant. Survival in dialysis at 1 year was 82%, at 2 years 46%, and at 3 years 37%. Survival of amyloidosis patients transplanted at the Finnish transplant centre within the same period was worse at 1 year, but better at 2 and 3 years, 70%, 62%, and 62% respectively, but the difference was not significant. Populations are not compatible, since patients were selected for transplantation. Infection was a common cause of death, 7/18 (39%) deaths; cardiac deaths were less common, only two myocardial infarctions and one cardiac arrhythmia (17%). Symptoms of cardiac amyloid infiltration indicated a poor prognosis, although it did not necessarily predict death of a cardiac cause. Cardiac infiltration of amyloid was more common in autopsy than previously reported (10 of 13 patients), probably indicating longer duration of amyloidosis in patients treated with renal replacement therapy. Patients who died within follow-up had a shorter interval between the start of primary disease and the development of amyloidosis than those who survived, 11.8 versus 17.7 years (P = 0.041), and also a slightly shorter period between diagnosis of amyloidosis and start of dialysis, 3.0 versus 4.4 years (P = 0.129). This indicates that the rate of progression of amyloidosis determines the development of disease-associated complications, and fast progression may predict serious outcome.

Adult↗

PubMed2004

AL-amyloidosis is underdiagnosed in renal biopsies.

BACKGROUND: Renal amyloidosis is associated with a variety of underlying disease processes. Although amyloid is identical in appearance in these diseases, the precursor proteins are different. Immunofluorescence microscopy has been used as the primary tool in the diagnostic evaluation of the underlying cause of renal AL-amyloidosis. The purpose of this study was to document the sensitivity of immunofluorescence microscopy in AL-amyloidosis. METHODS: We reviewed 36 renal biopsies from patients with amyloidosis collected in two medical centres. All biopsies showed characteristic fibrillary deposits of amyloid on electron microscopy and stained positive with Congo red or Thioflavin-T. RESULTS: Among these 36 patients, immunofluorescence staining for lambda and kappa light chains was negative or equivocal in 14 biopsies. Of these 14 patients, two patients had evidence of AA-amyloidosis. Twelve patients were found subsequently to have a plasma cell dyscrasia or multiple myeloma with monoclonal immunoglobulin and/or free light chains on immunofixation electrophoresis of urine or serum, and with evaluation of the bone marrow. Thus, 12 of 34 patients (35.3%) with proven AL-amyloidosis had negative immunofluorescence staining for kappa and lambda light chains. CONCLUSIONS: The data demonstrated the low sensitivity of immunofluorescence microscopy in the detection of AL-amyloidosis in the kidney and underscore the need to pursue additional diagnostic studies to identify this problem.

Amyloidosis↗