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PubMed2000

Genotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis.

OBJECTIVES: Differences in clinical manifestations of familial Mediterranean fever (FMF) between different ethnic groups have been documented. The FMF gene was recently cloned and four missense mutations (Met694Val, Met680Ile, Val726Ala, and Met694Ile) that account for a large percentage of the patients were identified. The results of initial mutation studies have led to the hypothesis that phenotypic variation of the disease may be attributable to the existence of some of these mutations. The purpose of this study was to evaluate whether this phenotypic variation is associated with the existence of particular mutations in Turkish FMF patients living in Turkey. METHODS: Four missense mutations and genotype-phenotype correlation were investigated in 167 Turkish FMF patients. The patients were grouped according to the presence of the Met694Val and the Met680Ile mutations, and 12 clinical parameters were compared between the groups. RESULTS: The presence of the Met694Val mutation was not found to be associated with a severe form of the disease or the development of amyloidosis. Arthritis frequency was found to be lower in the patients with homozygous Met680Ile mutation. CONCLUSIONS: None of the four missense mutations is associated with a severe disease or the development of amyloidosis in Turkish FMF patients living in Turkey. The influence of unknown environmental factors and/or the presence of other genetic changes are necessary to explain the phenotypic variation of the disease and the development of amyloidosis.

Adolescent↗
PubMed1991

Nodular cutaneous amyloidosis.

A nodular cutaneous amyloidosis biopsy specimen from a solitary nodule of a 75-year-old patient was characterized by amino terminal sequence analysis and was proved to be derived from immunoglobulin kIII light chain. Five years after the diagnosis of amyloidosis in the skin was made, a rectal biopsy demonstrated amyloid deposits in a blood vessel. It is suggested that nodular cutaneous amyloidosis is a slowly progressive systemic disease of the AL type, that manifest itself mainly in the skin.

Aged↗
PubMed2006

Acute renal failure and nephrotic range proteinuria due to amyloidosis in an HIV-infected patient.

Amyloidosis is an uncommon cause of renal disease in HIV-positive patients. Diagnosis is challenging, treatment options are limited, and prognosis remains poor. We discuss an HIV-positive patient with acute renal failure and nephrotic range proteinuria. The differential diagnosis included nephropathy due to trimethoprim/sulfamethoxazole, tenofovir, HIV, hepatitis C, heroin, or multifactorial causes. Serum and urine study findings were inconclusive. Rapid clinical deterioration ensued and a renal biopsy was performed. Pathologic examination revealed eosinophilic, amorphous material in the glomerular tufts that stained red-orange with Congo red stain. Immunohistochemical analysis confirmed amyloid A (AA) amyloidosis. AA amyloidosis occurs as a complication of chronic infection or chronic inflammatory disease. It has been reported in intravenous or subcutaneous drug abusers, some of whom were HIV-positive. This case underscores the importance of tissue diagnosis to determine the cause of renal disease in HIV-positive patients. Clinical diagnosis, based on CD4 count, viral load, and degree of proteinuria, may not predict the pathological diagnosis in HIV-positive patients.

Acute Kidney Injury↗
PubMed1990

Primary localized amyloidosis of the nose and paranasal sinuses. A case report with immunohistochemical observations and a review of the literature.

Primary localized amyloidosis of the nose and nasopharynx is a rare disease. We present a case and review seven additional cases from the English literature. The ages of the patients ranged from 8 to 86 years; there was no sex predominance. Symptoms were nasal obstruction, epistaxis, and impaired hearing. Physical examination revealed a nasal mass or glue ears. The lesions were composed of amyloid and chronic inflammatory cells, mainly plasma cells. Ours is the first case of nasal amyloidosis in which the type of amyloid was determined immunohistochemically to be amyloid light chain (AL) lambda. The main treatment was surgical. Recurrences developed. Determination of the biochemical nature of this amyloid clarified its pathogenesis and may influence treatment. Amyloidosis should be considered in the differential diagnosis of nasal obstruction, epistaxis, and glue ears, even in the pediatric age group.

Amyloid↗
PubMed2002

Life-threatening bleeding and acquired factor V deficiency associated with primary systemic amyloidosis.

Acquired factor X deficiency has been described in patients with amyloidosis but acquired factor V deficiency is quite rare. We report here a case of life-threatening bleeding and acquired factor V deficiency associated with primary amyloidosis. A 50-year-old man who had no previous hemorrhagic diathesis was referred to our hospital because of recurrent epistaxis, gingival bleeding and hemospermia. The laboratory examination revealed that both the prothrombin time (PT) and the activated partial thromboplastin time (aPTT) were significantly prolonged, and factor V activities were markedly decreased to 14-39% of the normal value. Other coagulation factors such as fibrinogen, prothrombin, factor VII, factor VIII, factor IX and factor X were subnormal and normal. Transaminases were slightly elevated but serological tests of hepatitis B and hepatitis C were negative. Mild hepatosplenomegaly was noted without sign of liver cirrhosis. The PT and aPTT obtained 8 years ago when he received a cholecystectomy due to cholecystitis were both normal. Specific assays for the detection of factor V inhibitor were repeatedly performed but no factor V inhibitor was found. Furthermore, a significant recovery of the infused factor V was noted shortly after an intravenous administration of 5-10 U fresh frozen plasma, but it did not last more than 6 h. Melena, bleedings into the left shoulder and buttock, and finally mortal retroperitoneal hemorrhage developed despite repeated infusions of large amounts of fresh frozen plasma. Acquired factor V deficiency associated with primary amyloidosis was suspected but histological diagnosis was not obtained because of the severe bleeding tendency. Autopsy revealed hepatosplenomegaly and massive deposits of AL amyloid in the liver, spleen, heart and other parenchymal organs. Perivascular amyloid deposition and factor V deficiency are both thought to be the cause of the severe hemorrhagic tendency seen in this patient.

Amyloidosis↗
PubMed1991

Amyloidosis.

Amyloidosis is a disease involving the fibrillar deposition of proteins in a manner that uniformly leads to the presence of green birefringence on polarization microscopy after staining the involved tissues with Congo red. In the year summarized, a wide range of new information has accumulated about this disease. In this article, attention has been paid to several newly described proteins now known to precipitate into amyloid deposits, including the proteins transthyretin, apolipoprotein A-1, cystatin C, gelsolin, amyloid beta protein, beta 2-microglobulin, scrapie protein, and islet amyloid polypeptide. The number of these amyloid-related proteins has resulted in the need for a revised nomenclature and classification scheme. The results of a recent international symposium addressing this issue are summarized in table form. The varied clinical manifestations of amyloidosis are described according to organ system, with unusual or unique areas of involvement noted. Finally, the treatment of amyloidosis and its prognosis are addressed, and new areas of possible intervention suggested.

Amyloid↗
PubMed2001

Amyloid precursors and amyloidosis in inflammatory arthritis.

Recent data demonstrating the multifunctional role of serum amyloid A (SAA) in the pathogenesis of amyloidosis have yielded important insights into this potentially fatal consequence of chronic inflammation. SAA has been shown to participate in chemotaxis, cellular adhesion, cytokine production, and metalloproteinase secretion and is thus integrally involved in the disease process. In addition to its production by the liver as part of the acute phase response, SAA is also expressed by several pathologic tissues such atherosclerotic plaques, rheumatoid synovitis and in the brains of patients with Alzheimer disease. Its constitutive production in normal tissue suggests a role for SAA in host defense and tissue turnover. Many pathways are involved in the regulation of SAA, and as more becomes known about these, potential therapeutic targets may be identified. However, the prevention of secondary amyloidosis is best achieved by early and adequate treatment of patients with chronic inflammatory disorders. Suppression of the acute phase response and normalization of SAA levels are likely to significantly impact on the incidence of amyloidosis in inflammatory arthritis.

Amyloidosis↗
PubMed1987

Hepatic amyloidosis in an i.v. drug abuser detected by bone scintigraphy.

A case of diffuse hepatic uptake of Tc-99m MDP in an intravenous drug abuser with biopsy-proven hepatic amyloidosis is presented. The association of parenteral drug addiction and amyloidosis, as well as current concepts regarding hepatic uptake of bone seeking radiopharmaceuticals in amyloidosis and its potential clinical implications are discussed.

Adult↗
PubMed1990

Accumulation of Tc-99m MDP in amyloidosis involving the tongue.

Radionuclide bone imaging using Tc-99m phosphates may show accumulation of activity in amyloid deposits. While many sites of amyloidosis have been detected with bone imaging, many reports center on cardiac amyloidosis. The case reported here demonstrates accumulation of Tc-99m MDP in amyloidosis involving the skin and muscle, including the tongue.

Aged↗
PubMed2003

Localized amyloidosis of the cornea secondary to trichiasis: clinical course and pathogenesis.

PURPOSE: To present four cases of localized corneal amyloidosis secondary to trichiasis and to discuss its pathogenesis. METHODS: Medical and pathologic records of four patients with corneal amyloidosis secondary to trichiasis were reviewed retrospectively. Two patients underwent trichiasis surgery and then lamellar keratectomy. One patient underwent trichiasis surgery only, and one patient received keratectomy only. The excised specimens were examined by light and electron microscopy. In two cases, they were stained with antibodies against kappa and lambda immunoglobulin light chains. All patients were followed for evidence of progression or recurrence of the lesions. RESULTS: Three cases presented with blurring of vision and a progressively enlarging vascularized unilateral corneal mass. One case had normal vision and a smaller, nonvascularized mass. All four cases had a history of trichiasis. After trichiasis surgery but before corneal surgery, two patients were followed for 24 and 18 months, respectively, and showed no progression of the corneal lesions. The patient who did not undergo trichiasis surgery had a recurrence of the corneal lesion after lamellar keratectomy. Pathologic examination confirmed amyloid deposition in all three excised specimens with almost no inflammatory cells. Immunohistochemical stains were negative. CONCLUSION: The close correlation between trichiasis surgery and the clinical course of corneal amyloidosis provides further evidence for their association. The pathologic findings in this study do not confirm that the amyloid deposits are light chain proteins (AL).

Adolescent↗
PubMedDate not supplied

The recognition and treatment of amyloidosis in the critical care patient.

Primary amyloidosis is a little understood, often misdiagnosed disease. Characterized by extracellular protein deposits in tissue and vital organs, this disease gives patients a survival period of 13.2 months after diagnosis. Those patients with congestive heart failure have a median survival rate of 4 months after diagnosis. Although primary amyloidosis may be considered rare, the incidence is the same as for Hodgkin disease, chronic granulocytic leukemia, and polycythema vera. This article discusses the pathophysiology, signs and symptoms, and treatment options for primary amyloidosis. Critical care nurses should be aware of this disease to allow their patients the greatest chance of survival.

Aged↗
PubMed1998

Localized amyloidosis of the uterine cervix.

Localized amyloidosis of the uterine cervix is a rare entity. Only seven cases have been reported to date, and all were associated with a primary cervical squamous cell carcinoma; immunohistochemical studies proved the amyloid to be composed of cytokeratin, presumably derived from degenerated tumor cells. We report localized cervical amyloidosis producing a 1-cm nodule in a 28-year-old woman in the absence of systemic amyloidosis or a squamous cell carcinoma. Immunohistochemical stains showed the amyloid to be composed of amyloid-associated protein, a protein produced in chronic inflammatory conditions.

Adult↗
PubMedDate not supplied

Amyloidosis and lymphoproliferative disease in Sjögren syndrome: thin-section computed tomography findings and histopathologic comparisons.

OBJECTIVE: To describe the thin-section computed tomography (CT) findings of Sjogren syndrome accompanying pulmonary amyloidosis and lymphoproliferative disease and to compare these with histopathologic findings. SUBJECTS AND METHODS: The thin-section CT findings of 5 women (age range: 42-59 years, mean age=50 years) with primary Sjogren syndrome accompanying pulmonary amyloidosis and lymphoproliferative disease were reviewed retrospectively by 2 chest radiologists, and decisions on findings were reached by consensus. The pathologic specimens of parenchymal lesions (nodules, dense consolidation, and cystic lesion at CT) obtained using video-assisted thoracoscopic surgery were studied to compare with the thin-section CT findings. RESULTS: Nodules, observed in all 5 patients, were variable in size and ranged from 3 to 24 mm (mean=9.9 mm) in diameter, with lobulated or irregular margins. Nodular calcifications were present in 3 patients. Cysts, which also were observed in all patients, ranged from 4 to 45 mm (mean=18.6 mm) in diameter, with a thin (1-2 mm) or no visible wall. Multiple cysts were observed, especially in the distal portion of narrowed bronchioles. Nodules and cysts showed a random distribution. Mild bronchial wall thickening with bronchial dilatation was seen in all patients, ground-glass opacities were seen in 3, and consolidation was seen in 1. Nodules, consolidation, and bronchial wall thickening at CT were caused histopathologically by the interstitial and peribronchiolar deposition of mixed amyloid and lymphoproliferative cells. Cysts lined with respiratory epithelium contained amyloid deposition and lymphoproliferative cells in their walls. CONCLUSION: Sjogren syndrome accompanying pulmonary amyloidosis and lymphoproliferative disease manifests as multiple, large, thin-walled cysts; multiple nodules; parenchymal opacity; and bronchiectasis. These findings are caused by the interstitial or peribronchial infiltration of mixed amyloid and lymphoproliferative cells.

Adult↗
PubMed1989

Spontaneous rupture of the liver associated with amyloidosis.

Fatal spontaneous rupture of the liver is described in a 46-year-old women with hepatic amyloidosis diagnosed premortem by liver biopsy. An autopsy revealed systemic amyloidosis, with no evidence of an underlying chronic inflammatory condition, infection, or immunocyte dyscrasia. By computerized search, this is only the third reported case of spontaneous rupture of the liver complicating amyloidosis.

Amyloidosis↗
PubMed1993

The liver-spleen scan in systemic amyloidosis: a clue to the diagnosis.

The clinical findings in cirrhosis and systemic amyloidosis may be similar, leading to difficulties in diagnosis. We studied three patients with systemic amyloidosis with a 99mTc sulfur colloid liver-spleen scan. In all three patients, uptake by the spleen was less than the liver, in contrast with the increased splenic uptake seen in patients with cirrhosis. The liver-spleen scan may be a useful tool in differentiating patients with cirrhosis from those with systemic amyloidosis when clinical findings fail to give the proper diagnosis.

Aged↗
PubMed1996

Hepatic amyloidosis presenting with severe intrahepatic cholestasis.

Systemic amyloidosis presenting with jaundice is rare. A case of primary amyloidosis presenting with severe intrahepatic cholestasis is reported. The patient had hepatomegaly, ascites, and a markedly elevated serum alkaline phosphatase level. He had a rapid downhill course resulting in death. Autopsy showed evidence of amyloidosis involving multiple organs, including the liver, kidney, and heart.

Adult↗
PubMedDate not supplied

Secondary amyloidosis in Crohn's disease of childhood.

Secondary amyloidosis is a rare complication of Crohn's disease, especially in pediatric patients. This report describes an 11-year-old child with Crohn's disease who developed intermittent proteinuria and thyroid enlargement at 14 years of age as the initial manifestations of secondary amyloidosis. Deterioration in renal function resulted in her death at 20 years of age. Published reports that discuss the occurrence of systemic amyloidosis in Crohn's disease and the pediatric age group are reviewed.

Adolescent↗
PubMed2001

Primary diffuse tracheobronchial amyloidosis: radiologic findings.

Reports detailing the radiologic features of tracheobronchial amyloidosis are scant and typically describe only the computed tomography findings of this disease. No reports have described the magnetic resonance (MR) findings of tracheobronchial amyloidosis. With this case, the authors describe the radiologic findings in a patient with diffuse tracheobronchial amyloidosis, focusing particularly on the MR and bone scintigraphy findings in this disease.

Amyloidosis↗