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PubMed1997

Intractable diarrhoea associated with secondary amyloidosis in rheumatoid arthritis.

OBJECTIVE: To examine the clinical characteristics of intractable diarrhoea associated with secondary amyloidosis in rheumatoid arthritis (RA). METHODS: Of 179 RA patients with biopsy confirmed secondary amyloidosis, 24 cases (23 women and one man) with intractable diarrhoea lasting for more than one month were retrospectively evaluated. RESULTS: The mean (SD) duration of diarrhoea was 87 (64) days. Prodromal symptoms of gastrointestinal dysfunction (n = 21) and impaired peristalsis (n = 16) were observed. Laboratory data showed hypoproteinaemia (4.7 (0.85) g/dl) caused by malabsorption or protein loss and high values of C reactive protein (17.0 (9.3) mg/dl). Recurrence of intractable diarrhoea (n = 4) and transition from intractable diarrhoea to other gastrointestinal problems of amyloidosis (ischaemic colitis (n = 2) and intestinal pseudo-obstruction (n = 4)) were observed. In 19 patients (25 episodes) the duration of intravenous hyperalimentation at remission (18 episodes) was 68 (52) days. Corticosteroid pulse therapy was administered to 10 patients (11 times) and the time elapsed from the end of corticosteroid pulse therapy to the end of diarrhoea was 18 (14) days. One and five year survival rates after the onset of intractable diarrhoea were 73.4% and 38.9%. Seven of 13 patients (54%) had died as a result of infectious diseases. CONCLUSION: Intractable diarrhoea associated with secondary amyloidosis in RA is a serious clinical entity and the prognosis is poor. Although it is assumed that intravenous hyperalimentation treatment and corticosteroid pulse therapy are favourable regimens for intractable diarrhoea, the patients should be monitored for possible infectious complications.

Adult↗
PubMed2001

Amyloidosis induced, end stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene.

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent attacks of fever and serositis. Amyloidosis is the most significant complication of FMF, leading to end stage renal disease (ESRD). Recently the gene (MEFV) causing this disease was cloned and more than 18 mutations have been identified. The hypothesis that the development of amyloidosis is associated with one of these mutations was tested. METHODS: 23 patients with FMF and ESRD were analysed for their MEFV mutations and correlated with their corresponding rectal and renal biopsies. As case controls 23 patients with FMF free of renal disease, but with similar origin, sex, age, and age at onset of FMF, were chosen. RESULTS: All the patients with ESRD induced by amyloidosis were homozygous for the M694V or M694I mutations. This finding was significantly different from that seen in the control group. CONCLUSIONS: Amyloidosis is highly associated with the 694 substitution in the MEFV gene causing FMF. It seems that genetic predisposition plays a part in the development of this complication of FMF.

Adult↗
PubMed1976

Secondary amyloidosis due to Schistosoma mansoni infection.

Four children with Schistosoma mansoni infection and the nephrotic syndrome with varying degrees of renal dysfunction were found on histological examination to have amyloidosis. In one boy who had no evidence of renal failure complete clinical regression of his nephrotic syndrome and almost complete disappearance of renal amyloid deposits followed adequate treatment of his schistosomal infection. Conditions known to cause secondary amyloidosis were excluded in all four patients. Amyloidosis in association with mansoni infection is probably more common than is currently recognised. Early treatment of the infection, before renal function becomes impaired, may result in regression of the amyloidosis.

Adolescent↗
PubMed2002

Widespread cardiovascular autonomic dysfunction in primary amyloidosis: does spontaneous hyperventilation have a compensatory role against postural hypotension?

OBJECTIVE: To investigate the possible causes of abnormal blood pressure control in light chain related (primary, AL) amyloidosis. DESIGN: Cardiovascular, autonomic, and respiratory response to passive tilting were investigated in 51 patients with primary amyloidosis (mean (SEM) age 56 (2) years) and in 20 age matched controls. Spontaneous fluctuations in RR interval, respiration, end tidal carbon dioxide, blood pressure, and skin microcirculation were recorded during supine rest and with tilting. The values were subjected to spectral analysis to assess baroreflex sensitivity and the autonomic modulation of cardiac and vascular responses. SETTING: Tertiary referral centre. RESULTS: Autonomic modulation of the heart and blood pressure was nearly absent in the patients with amyloidosis: thus baroreflex sensitivity and the low frequency (0.1 Hz) fluctuations in all cardiovascular signals were severely reduced (p < 0.01 or more), as were respiratory fluctuations in the RR interval, and no change was observed upon tilting. Despite reduced autonomic modulation, blood pressure remained relatively stable in the amyloid group from supine to tilting. End tidal carbon dioxide was reduced in the amyloid patients (p < 0.001) indicating persistent hyperventilation; the breathing rate correlated inversely with the fall in blood pressure on tilting (p < 0.05). CONCLUSIONS: In primary amyloidosis, pronounced abnormalities in arterial baroreflexes and cardiovascular autonomic modulation to the heart and the vessels may be partly compensated for by hyperventilation at a slow breathing rate.

Amyloidosis↗
PubMed1992

Renal AA amyloidosis in a patient with Bence Jones proteinuria and ankylosing spondylitis.

A patient with a 10 year history of monoclonal gammopathy of undetermined significance and Bence Jones proteinuria, and a 44 year history of ankylosing spondylitis, developed a nephrotic syndrome secondary to renal amyloidosis. Clinically the amyloidosis was ascribed to Bence Jones proteinuria rather than to the burnt out ankylosing spondylitis. However, histochemical and immunofluorescence staining techniques used to type the amyloid fibrils showed AA amyloidosis, implicating ankylosing spondylitis rather than monoclonal gammopathy as the underlying cause of the patient's systemic amyloidosis and consequent nephrotic syndrome. It is recommended that immunostaining of amyloid become a routine procedure to detect occult or apparently inactive disease.

Amyloidosis↗
PubMed1997

Beta 2 microglobulin haemodialysis related amyloidosis: distinctive gross features of gastrointestinal involvement.

Two cases of beta 2 microglobulin amyloidosis following long term haemodialysis found during necropsy are reported. The patients were 59 and 65 year old Japanese men, respectively. In both cases, systemic distribution of beta 2 microglobulin amyloid deposits was observed. The gastrointestinal tract including the stomach, small intestine, and colon showed the distinctive gross feature of rippled appearance, which was characterised by serosal wrinkles along the muscle layer arrangement. These areas were confirmed to contain deposits of beta 2 microglobulin in the muscularis propria. Although the outline of the muscle layers was preserved, most muscle fibres, encircled by the amyloid deposits, were atrophic or had disappeared microscopically. In neither case could a definite diagnosis of amyloidosis be made while the patient was alive. Interestingly, the oesophagus presented less involvement compared to the remainder of the gastrointestinal tract. In comparison with the AA or AL type of amyloidosis, beta 2 microglobulin haemodialysis related amyloidosis showed a rippled appearance of the serosal rather than mucosal changes, which may explain the difficulty in diagnosing amyloid deposits using biopsies of the gastrointestinal tract.

Aged↗
PubMed2004

Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis.

OBJECTIVES: To report the clinical features of two Japanese brothers with familial leptomeningeal amyloidosis, showing a causative gene abnormality of a transthyretin (TTR) variant Asp18Gly, previously reported only in a Hungarian family. METHODS: The authors reported on a 42 year old man (patient 1) and his 45 year old brother (patient 2), both suffering from subarachnoid haemorrhage (SAH) without and with hydrocephalus, respectively. DNA sequences of the TTR gene were determined in both patients and the patients' clinical features described. A surgical biopsy of the leptomeninges was performed on patient 1. RESULTS: DNA sequence analyses demonstrated the glycine-for-aspartate substitution at position 18 of the TTR variant. Both patients revealed pyramidal tract signs and cerebellar ataxia. Audiometric studies showed bilateral, mild sensorineural hearing loss in the patients whose cerebrospinal fluid (CSF) protein levels increased. T1 weighted MRI after contrast administration showed diffuse leptomeningeal enhancement along the Sylvian fissures and over the surface of the brainstem, cerebellum, and spinal cord. Gradient echo T2* weighted MRI showed superficial siderosis mainly in the cerebellum. A biopsy of the leptomeninges was obtained from the spinal cord of patient 1. While performing the biopsy, the authors observed the varicose, elongating, and fragile veins on the dorsal surface of the spinal cord. Immunohistochemical study revealed marked deposits of TTR derived amyloid on his leptomeninges. CONCLUSIONS: This is the second report of familial leptomeningeal amyloidosis with an Asp18Gly TTR gene mutation, clinically causing only CNS symptoms. Repeated SAH from fragile veins on the dorsal surface of the spinal cord seemed to induce superficial siderosis of the CNS. So far, there have been two reliable hallmarks leading to the diagnosis of leptomeningeal amyloidosis: diffuse leptomeningeal enhancement on contrast MRI and greatly increased CSF protein content. This study has contributed a third hallmark: the presence of superficial siderosis is useful in diagnosing leptomeningeal amyloidosis.

Adult↗
PubMed1996

Myopathy in primary systemic amyloidosis.

OBJECTIVE: To define the natural history of primary systemic amyloidosis when muscle involvement is prominent at presentation. METHODS: A retrospective review was carried out of all patients seen at the tertiary referral practice of the Mayo Clinic between 1 January 1960 and 31 December 1994. All patients with primary systemic amyloidosis and proof of amyloid deposits by muscle biopsy were included for analysis. No patients were lost to follow up. RESULTS: Twelve patients were identified with amyloidosis in muscle. Muscle involvement was the most prominent symptom in patients who had widespread visceral involvement, which included the heart, peripheral nerve, and tongue. Of the 12, three had skeletal muscle pseudohypertrophy. All patients had a demonstrable dysproteinaemia by the finding of free light chain in the serum or urine, a discrete monoclonal peak on serum or urine protein electrophoresis, or a monoclonal population of plasma cells in the bone marrow. Measurement of creatine kinase was not a useful test. Of eight patients treated with chemotherapy based on alkylating agents, three responded. The median survival for the entire group was 12 months. CONCLUSIONS: The finding of a monoclonal protein in a patient with muscle weakness is an important clue to the diagnosis of primary systemic amyloidosis. Most patients have visceral involvement outside the musculoskeletal system. A subset of patients seems to respond to systemic chemotherapy. The overall survival, however, remains poor, with most patients dying of cardiac failure. Immunoelectrophoresis of serum and urine should be a routine diagnostic test during the evaluation of myopathy of unknown cause.

Aged↗
PubMed1999

Pupil abnormality in amyloidosis with autonomic neuropathy.

Darkness pupil diameters, light reflexes, and redilatation times have been recorded with infrared TV pupillometry in 12 consecutive patients with systemic amyloidosis associated with sensory motor and autonomic neuropathy. Nine of the patients had AL amyloidosis, two had familial amyloidosis associated with a transthyretin abnormality, and one was untyped. The pupils were abnormal in all 12 patients. On the basis of redilatation lag without pupillotonia, six patients had bilateral Horner's syndrome and in one of them amyloid deposits were found in a sympathetic ganglion and in the attached sympathetic chain obtained at necropsy. Four patients had bilateral tonic pupils with light-near dissociation and two had abnormally small pupils with reduced light reactions which could not be characterised. It seems that in patients with systemic amyloidosis generalised autonomic neuropathy is strongly associated with pupil abnormality as shown by tonic reactions with light-near dissociation, by redilatation lag, or by reduced size in darkness.

Adult↗
PubMed1986

Destructive bone lesions in primary amyloidosis.

We describe a patient with primary amyloidosis in whom multiple osteolytic lesions caused by amyloid bone tumours developed, and review the clinical features of the 18 cases with primary amyloidosis in whom destructive bone lesions have been reported. In contrast to amyloidosis associated with multiple myeloma, destructive lesions in the primary disease are mainly located to long bones; joint involvement is common, and radionuclide bone scan shows pronounced uptake of 99mTc-PP by the destructive bone lesions. Despite the superficial similarity between the destructive bone lesions associated with primary amyloidosis and multiple myeloma, distinction between these entities on clinical grounds is possible and may be easily confirmed by direct aspiration of the osteolytic infiltrates.

Aged↗
PubMed1994

Systemic amyloidosis and ovarian carcinoma.

A case of ovarian carcinoma and systemic amyloidosis in a 64 year old woman with nephrotic syndrome is reported. Immunohistochemical study of renal and rectal biopsy specimens revealed the presence of amyloidosis AA antigens, consistent with secondary amyloidosis. The absence of chronic inflammatory or infectious disease suggested the presence of a neoplasm. The gynaecological sonogram showed a solid mass located behind the uterus. Laparotomy confirmed a poorly differentiated ovarian carcinoma. The association of systemic amyloidosis and ovarian carcinoma has not to our knowledge been described previously.

Amyloidosis↗
PubMed1983

Amyloidosis of heart and liver: comparison of Tc-99m pyrophosphate and Tc-99m methylene diphosphonate for detection.

A prospective, comparative study was made of the efficacy of technetium-99m pyrophosphate (Tc PYP) and technetium-99m methylene diphosphonate (Tc MDP) in detecting soft-tissue amyloidosis. Tc PYP and Tc MDP scans were obtained within ten-day intervals in seven patients with histologically proven amyloidosis. Tc PYP was a better scanning agent for soft-tissue amyloidosis in all patients. Cardiac and hepatic involvement were proved by autopsy in one patient. Involvement of the heart was confirmed by echocardiography in five patients. The potential use of Tc PYP scanning as a screening test for soft-tissue amyloidosis is discussed.

Adult↗
PubMed2003

Unusual skin manifestation of cutaneous amyloidosis.

A 76-year-old man with a 20-year history of extensive cutaneous amyloidosis is reported. He had asymptomatic symmetric brownish reticulated pigmented patches with well-demarcated borders on his thighs, lower legs, dorsal feet and both arms. The trunk and popliteal fossae were not affected. A skin biopsy specimen showed abundant amyloid deposits in the papillary dermis and reticular dermis. Despite the extensive cutaneous involvement and large amount of amyloid in the deep dermis, no evidence of systemic amyloidosis could be found. Various manifestations of cutaneous amyloidosis are reviewed. We report this case to remind dermatologists of the protean presentations of cutaneous amyloidosis.

Administration, Topical↗
PubMed1987

Visceral involvement of dialysis amyloidosis.

Carpal tunnel syndrome, peripheral arthropathy, erosive spondyloarthropathy and lytic bone lesions have all been associated with dialysis amyloidosis. Recent studies indicate that beta 2-microglobulin is the major constituent protein in this new form of amyloidosis. Dialysis amyloidosis was reported to have a local rather than a systemic involvement, although its full extent is yet to be determined. We investigated 3 patients on maintenance hemodialysis with bilateral carpal tunnel syndrome and amyloid arthropathy and found amyloid depositions in several organs. These findings suggest that, in contrast to what had been thought previously, dialysis amyloidosis could have systemic as well as visceral distribution. The amyloid deposits found were resistant against potassium permanganate treatment and reacted with anti-human beta 2-microglobulin antibody.

Aged↗
PubMed1990

End-stage renal disease in systemic amyloidosis: clinical course and outcome on dialysis.

We studied a group of 48 patients with systemic amyloidosis and end-stage renal disease (ESRD) treated with chronic dialysis to analyze the clinical course and the factors which can influence survival. This group was compared to a control group of 63 nondiabetic patients without amyloidosis with ESRD treated with hemodialysis. The median survival of the experimental group was 52 months; 1-, 2- and 6-year actuarial survival was 72, 62, and 44%, while in the control group it was 95, 91, and 81%, respectively (p less than 0.001). Survival was significantly shorter for patients with amyloidosis who rapidly (less than 3 months) progressed to ESRD or who had an acute deterioration in renal function immediately prior to the need for dialysis. The median survival in these cases was 4 and 1.5 months, respectively. Age, the presence or the degree of renal failure at the moment of diagnosis, and the type of amyloidosis did not affect the survival of these patients. Despite a shorter period of time spent on dialysis, these patients had a similar number of hospital admissions, cardiovascular and infectious events as the control patients, but more gastrointestinal disorders (bleeding and chronic diarrhea) and blood access problems. In conclusion, amyloidotic patients maintained on chronic dialysis have high morbidity and mortality rates. Nevertheless, acceptable survival is predictable in stable patients who progress slowly to ESRD.

Actuarial Analysis↗
PubMed1990

Systemic involvement of dialysis-amyloidosis.

A new type of amyloidosis, predominantly osteoarticular, has recently been recognized in uremic patients on hemodialysis, beta 2-microglobulin being the major constituent protein. Nowadays, it is not clear whether the amyloid deposition is limited to osteoarticular structures or whether it has a systemic character. In order to investigate the extension of dialysis amyloidosis, we studied 26 patients receiving hemodialysis treatment (mean time 12.2 years) for chronic renal failure due to nonamyloid nephropathy and who were affected by symptomatic dialysis amyloidosis. Twenty-two patients developed a carpal tunnel syndrome, and amyloid arthropathy was present in 21. Subcutaneous abdominal fat aspiration, rectal and skin biopsy, and two-dimensional echocardiography were performed in most of the patients, searching for the visceral involvement. Surgical pieces (one stomach and two colon) and three necropsies of symptomatic patients were included in the systemic investigation. Also, we studied five necropsies of patients without articular symptoms. Histological confirmation of amyloid visceral involvement was demonstrated in 15 (58%) of the 26 patients studied. When positive two-dimensional echocardiograms were included, the percentage increased to 81%. No differences in the rate of visceral involvement could be found between the two clinical groups (with and without carpal tunnel syndrome). Two-dimensional echocardiography represents the most useful tool to search for the visceral involvement of beta 2-microglobulin amyloidosis, followed by abdominal fat aspiration and rectal biopsy. Amyloid deposits were resistant to potassium permanganate treatment and reacted with antihuman beta 2-microglobulin (avidin-biotin-peroxidase method).

Aged↗
PubMed1989

The expanding spectrum of a disease. Behçet's disease associated with amyloidosis.

In this report, we present a series of 6 patients with Behçet's disease (BD) associated with amyloidosis whose illnesses date back at least 4 years. In all the cases, nephrotic syndrome heralded the onset of amyloidosis, which was diagnosed by percutaneous kidney biopsies. After the diagnosis of amyloidosis, all subjects received colchicine, and steroids were discontinued. Three patients have benefited from treatment. It was suggested that amyloidosis may be an intrinsic feature of BD or that the suppurative lesions may play a role in the accumulation of amyloid in the tissues. The literature was reviewed and discussed.

Adult↗
PubMed1994

Systemic amyloidosis. A report of 19 cases.

Systemic amyloidosis is a rare disorder and usually occurs in aged persons with a poor prognosis. Certain mucocutaneous symptoms and signs may act as important clues for diagnosis. Skin or tongue biopsy may also provide important information to establish a firm diagnosis. During the past 14-year period, we found 19 cases of systemic amyloidoses: 8 (42%) with primary systemic amyloidosis, 8 (42%) associated with multiple myeloma and 3 (16%) were secondary amyloidosis. Ages of the patients ranged from 52 to 71 years with a mean age of 62 years at diagnosis. Median survival was only 8 months. Mucocutaneous manifestations were found in both primary type and myeloma-associated amyloidosis. In addition to the existence of amyloid in tongue and rectum biopsies in 17 cases and abdominal fat aspiration in 1 case, biopsies from clinically normal-looking skin also showed positive results in 18 out of 19 cases.

Aged↗