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1.
Medicine (Baltimore) ; 99(43): e22942, 2020 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-33120855

RESUMO

RATIONALE: Tracheobronchial amyloidosis (TBA) associated with Sjögren syndrome is very rare. Here, we describe a case with this phenomenon, in order to better understand the condition. PATIENT CONCERNS: A 52-year-old woman presented after 6 months of coughing, sputum, and dyspnea. Chest computed tomography revealed thickened bronchial walls, which were irregular on the left side the trachea. She had a history of dry eye and dry mouth of at least 3 years' duration. DIAGNOSES: Sjögren syndrome was diagnosed based on her symptoms, ophthalmological and parotid examination, and immunological and autoantibody tests. The diagnosis of TBA was confirmed by Congo red staining of a tracheal biopsy. INTERVENTIONS: The patient was given glucocorticoids without any other immunosuppressants. OUTCOMES: The symptoms improved after 6 months. LESSONS: TBA associated with Sjögren syndrome is a rare condition. TBA is characterized by amyloid deposition to the trachea in the absence of systemic amyloidosis. Diagnosis requires tissue biopsy with demonstration of amyloid deposition.


Assuntos
Amiloidose/etiologia , Broncopatias/patologia , Síndrome de Sjogren/complicações , Doenças da Traqueia/patologia , Amiloidose/diagnóstico , Biópsia , Broncoscopia/métodos , Tosse/diagnóstico , Tosse/etiologia , Dispneia/diagnóstico , Dispneia/etiologia , Feminino , Glucocorticoides/uso terapêutico , Humanos , Pessoa de Meia-Idade , Síndrome de Sjogren/diagnóstico , Síndrome de Sjogren/tratamento farmacológico , Escarro , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
5.
Z Rheumatol ; 79(7): 660-668, 2020 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-32767072

RESUMO

BACKGROUND: In patients with chronic inflammatory rheumatic diseases various types of amyloidosis diseases can occur. If amyloidosis is suspected a differentiation between local and systemic amyloid deposits needs to be made as well as between AL, AA and other forms of amyloidosis. OBJECTIVE: The aim is the characterization of local and systemic AL amyloidosis in rheumatic diseases, demonstration of diagnostic algorithms and prognostic factors as well as a discussion of the treatment options. MATERIAL AND METHODS: The cohort of patients with amyloidosis at the amyloidosis center in Heidelberg is presented and compared to other amyloidosis cohorts as well as a discussion of the treatment options. RESULTS: A monoclonal gammopathy can be observed in many patients with various rheumatic diseases. In patients with Sjogren's syndrome nodular cutaneous deposits of local AL amyloid can be observed; however, the occurrence of systemic AL amyloidosis has so far been reported only in a few isolated cases of patients with rheumatic diseases. CONCLUSION: In patients with rheumatic diseases, the development of a mostly local AL amyloidosis must also be considered in addition to AA amyloidosis. An early diagnosis is crucial to prevent further deterioration of organ function in patients with clinical indications of a systemic amyloidosis. The differentiation between AA and AL amyloidosis is essential in order to initiate a targeted treatment.


Assuntos
Amiloidose , Gamopatia Monoclonal de Significância Indeterminada , Paraproteinemias , Amiloide , Amiloidose/diagnóstico , Amiloidose/terapia , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina
7.
Rev Assoc Med Bras (1992) ; 66(3): 345-352, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32520156

RESUMO

Cardiac amyloidosis is an infiltrative disease which requires a high degree of clinical suspicion for appropriate diagnosis. Early diagnosis and the definition of the type of amyloidosis play a key role in the early treatment and prognosis of this disease. In this context, the use of cardiac biomarkers such as troponins and NT-proBNT associated with analysis by multimodality imaging methods like echocardiographic techniques such as strain, nuclear medicine, and cardiovascular resonance imaging have an increasing role in patients with cardiac amyloidosis. This article details the role of non-invasive diagnostic methods in patients with cardiac amyloidosis.


Assuntos
Amiloidose/diagnóstico , Biomarcadores , Ecocardiografia , Humanos , Espectroscopia de Ressonância Magnética , Prognóstico , Cintilografia , Tomografia Computadorizada por Raios X
8.
Acta Haematol ; 143(4): 352-364, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32535598

RESUMO

Amyloidosis comprises a diverse group of diseases characterized by misfolding of precursor proteins which eventually form amyloid aggregates and preceding intermediaries, which are deposited in target tissues causing progressive organ damage. In all forms of amyloidosis, vital organs may fail; depending on the specific amyloidosis type, this may occur rapidly or progress slowly. Beyond therapies to reduce the precursor protein (chemotherapy for light chain [AL] amyloidosis, anti-inflammatory therapy in serum A amyloid-osis [AA], and antisense RNA therapy in transthyretin amyloidosis [ATTR]), organ transplantation may also be a means to reduce amyloidogenic protein, e.g., in types of amyloid-osis in which the variant precursor is produced by the liver. Heart transplantation is a life-saving approach to the treatment of patients with advanced cardiac amyloidosis; however, amyloidosis may still be considered a contraindication to the procedure despite data supporting improved outcomes, similar to patients with other indications. Kidney transplantation is associated with particularly favorable outcomes in patients with amyloidosis, especially if the precursor protein has been eliminated. Overall, outcomes of solid organ transplantation are improving, but more data are needed to refine the selection criteria and the timing for organ transplantation, which should be performed in highly experienced centers involving multidisciplinary teams with close patient follow-up to detect amyloid recurrence.


Assuntos
Amiloidose/terapia , Transplante de Órgãos , Amiloidose/diagnóstico , Amiloidose/etiologia , Amiloidose/mortalidade , Gerenciamento Clínico , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico , Amiloidose de Cadeia Leve de Imunoglobulina/etiologia , Amiloidose de Cadeia Leve de Imunoglobulina/terapia , Transplante de Órgãos/efeitos adversos , Transplante de Órgãos/métodos , Resultado do Tratamento
9.
Acta Haematol ; 143(4): 312-321, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32544917

RESUMO

Amyloidosis is a general term for diseases characterised by the deposition of insoluble amyloid fibrils in organs or tissues, leading to organ dysfunction and, in many cases, death. Amyloid fibrils are derived from soluble precursor proteins, with the number of known amyloidogenic proteins increasing over time. The identity of the precursor protein often predicts the disease phenotype, although many of the amyloidoses have overlapping clinical features. Most patients with amyloidosis will require biopsy of an involved organ or tissue to confirm the diagnosis. Cardiac transthyretin amyloidosis, however, may be diagnosed without a biopsy provided stringent criteria are met. Where amyloid is confirmed histologically, the identity of the amyloidogenic protein must be determined, given several of the amyloidoses have disease-specific therapies. Laser capture microdissection and tandem mass spectrometry, LCM-MS, has revolutionised amyloid subtyping, being able to identify the amyloidogenic protein more reliably than antibody-based methods such as immunohistochemistry. Here we summarise the biopsy approach to amyloidosis, as well as the non-biopsy diagnosis of cardiac transthyretin amyloidosis. Proteomic and antibody-based methods for amyloid subtyping are reviewed. Finally, an algorithm for confirming the diagnosis of amyloidosis is presented.


Assuntos
Amiloidose/diagnóstico , Algoritmos , Amiloide/metabolismo , Amiloidose/etiologia , Amiloidose/metabolismo , Amiloidose/terapia , Biomarcadores , Biópsia , Gerenciamento Clínico , Suscetibilidade a Doenças , Humanos , Imuno-Histoquímica , Espectrometria de Massas , Microscopia de Fluorescência , Microscopia Imunoeletrônica , Especificidade de Órgãos , Agregação Patológica de Proteínas , Proteômica/métodos
10.
Medicine (Baltimore) ; 99(26): e20828, 2020 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-32590770

RESUMO

RATIONALE: Pulmonary amyloidosis is a rare respiratory disease characterized by amyloid deposition in the lungs. The clinical manifestations of pulmonary amyloidosis are variable and without specific symptoms. PATIENT CONCERNS: We report a rare case of tracheobronchial amyloidosis to improve our understanding of the disease. DIAGNOSES: The diagnosis of tracheobronchial amyloidosis was finally established by transbronchoscopic lung biopsy and histological examination. INTERVENTIONS: The patient significantly improved with methylprednisolone sodium succinate for injection (40 mg/day) for 5 days and low-dose oral prednisone for 10 days. OUTCOMES: After treatment, discomfort, such as cough, stridor, dyspnea, and chest tightness, disappeared, and he was discharged. The patient was in good clinical condition after 8 months of follow-up. CONCLUSION: This case clearly shows that it is difficult to distinguish tracheobronchial amyloidosis from other diseases with manifestations of cough, dyspnea and chest tightness because of their similar symptoms and imaging findings. Thus, the role of transbronchoscopic lung biopsy and histological examination in the diagnosis of tracheobronchial amyloidosis is very important.


Assuntos
Amiloidose/diagnóstico , Amiloidose/tratamento farmacológico , Biópsia/métodos , China , Tosse/etiologia , Dispneia/etiologia , Glucocorticoides/uso terapêutico , Humanos , Pneumopatias/diagnóstico , Pneumopatias/tratamento farmacológico , Masculino , Hemissuccinato de Metilprednisolona/uso terapêutico , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X/métodos
11.
Acta Haematol ; 143(4): 322-334, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32392555

RESUMO

BACKGROUND: The amyloidoses are a rare and heterogeneous group of disorders that are characterized by the deposition of abnormally folded proteins in tissues ultimately leading to organ damage. The deposits are mainly extracellular and are recognizable by their affinity for Congo red and their yellow-green birefringence under polarized light. Current classification of amyloid in medical practice is based on the amyloid protein type. To date, 36 proteins have been identified as being amyloidogenic in humans. SUMMARY: in clinical practice, it is critical to distinguish between treatable versus non-treatable amyloidoses. Moreover, amyloidoses with a genetic component must be distinguished from the sporadic types and systemic amyloidoses must be distinguished from the localized forms. Among the systemic amyloidoses, AL continues to be the most common amyloid diagnosis in the developed world; other clinically significant types include AA, ALECT2, and ATTR. The latter is emerging as an underdiagnosed type in both the hereditary and wild-type setting. Other hereditary amyloidoses include AFib, several amyloidoses derived from apolipoproteins, AGel, ALys, etc. In a dialysis setting, systemic amyloid derived from ß2 microglobulin (Aß2M) should be considered, although a very rare hereditary variant has also been reported; several amyloidoses may be typically associated with aging and several iatrogenic types have also emerged. Determination of the amyloid protein type is imperative before specific therapy can be implemented and the current methods are briefly summarized. A brief overview of the target organ involvement by amyloid type is also included. Key Messages: (1) Early diagnosis of amyloidosis continues to pose a significant challenge and requires the participation of many clinical and laboratory specialties. (2) Determination of the protein type is imperative before specific therapy can be implemented. (3) While mass spectrometry has emerged as the preferred method of amyloid typing, careful application of immune methods is still clinically useful but caution and experience, as well as awareness of the limitations of each method, are necessary in their interpretation. (4) While the spectrum of amyloidoses continues to expand, it is critical to distinguish between those that are currently treatable versus those that are untreatable and avoid causing harm by inappropriate treatment.


Assuntos
Amiloidose/diagnóstico , Amiloidose/etiologia , Envelhecimento/metabolismo , Amiloide/metabolismo , Amiloidose/metabolismo , Amiloidose/terapia , Biomarcadores , Biópsia , Diagnóstico Diferencial , Gerenciamento Clínico , Suscetibilidade a Doenças , Humanos , Especificidade de Órgãos , Agregação Patológica de Proteínas
12.
Acta Haematol ; 143(4): 343-351, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32408301

RESUMO

Cardiac amyloidosis, the majority of cases of which are due to immunoglobulin light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR), affects different aspects of the heart and cardiovascular system. Amyloid-induced cardiomyopathy, clinically manifesting with heart failure and electrophysiological abnormalities, has distinct characteristics compared to non-amyloid cardiomyopathies. Accordingly, specific management strategies are required. This paper will review the cardiovascular manifestations of patients with cardiac amyloidosis and their suggested treatment strategies, emphasizing the importance of multidisciplinary care.


Assuntos
Amiloidose/complicações , Cardiomiopatias/diagnóstico , Cardiomiopatias/etiologia , Cardiomiopatias/terapia , Amiloidose/diagnóstico , Amiloidose/terapia , Terapia Combinada , Gerenciamento Clínico , Suscetibilidade a Doenças , Testes de Função Cardíaca , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina/complicações , Fenótipo
15.
Am J Kidney Dis ; 76(2): 295-297, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32362418
16.
J Oral Maxillofac Surg ; 78(9): 1572-1582, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32442425

RESUMO

PURPOSE: Localized amyloidosis of the tongue is a benign condition in which surgical management may be considered. The aim of the study was to review the current literature and report a case. MATERIALS AND METHODS: We searched the PubMed database for all relevant articles reporting cases of localized tongue amyloidosis published between 1980 and February 2020. In addition, we updated 1 case diagnosed and treated in our department. RESULTS: A 49-year-old male patient presented with an asymptomatic tongue nodule of the dorsum mimicking median rhomboid glossitis. The results of an incisional biopsy showed an amyloid on Congo red staining and positive findings for the κ light chain by immunohistochemical analysis. The findings of the systemic workup were negative. Therefore, a diagnosis of localized κ light-chain amyloidosis was made. The patient underwent a resection of the lesion, and no recurrence or progression was observed during a period of 18 months. The literature review showed 12 reports describing 21 patients (11 men, 52.3%) with localized tongue amyloidosis. The most common clinical presentation was nodular with a single lesion of the tongue dorsum (15 patients, 71.4%). All cases showed positive findings on Congo red staining. Immunohistochemical analysis findings were available for only 9 patients (42.8%) and showed light-chain amyloidosis. No case showed any systemic involvement or the development of systemic disease. Surgical excision was performed in 9 cases, with recurrence at the site of operation in 2 cases. CONCLUSIONS: Localized amyloidosis of the tongue is a rare disease in which surgical excision may be therapeutic when a multidisciplinary evaluation does not show any systemic disease. We recommend an excision when the lesion is persistent or shows an enlargement or when discomfort is reported. In the case of any further local recurrence, resection may be repeated.


Assuntos
Amiloidose , Doenças da Língua , Amiloide , Amiloidose/diagnóstico , Amiloidose/cirurgia , Biópsia , Humanos , Masculino , Pessoa de Meia-Idade , Língua/cirurgia , Doenças da Língua/diagnóstico , Doenças da Língua/cirurgia
17.
Z Rheumatol ; 79(7): 649-659, 2020 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-32253511

RESUMO

Autoinflammatory syndromes (AIS) are characterized by uniform attacks often with febrile episodes, exanthema, abdominal pain, muscle and joint pain. Patients show markedly elevated levels of the inflammatory serum parameters C­reactive protein (CRP) and systemic amyloid A (SAA) during an attack. The origin of the family of the patient and the duration of the attacks are helpful to find the appropriate diagnosis. Molecular genetic tests are used to confirm the clinical diagnosis of an AIS. Colchicine can prevent attacks of familial Mediterranean fever but not the other forms of AIS. In refractory cases anakinra or canakinumab can be used to control the inflammatory exacerbations. Systemic AA amyloidosis can develop secondary to any insufficiently treated chronic inflammatory disease. Renal involvement is the predominant initial organ dysfunction, which can be detected early on by the evaluation of proteinuria. If AA amyloidosis can be diagnosed early and successfully treated, the renal function and the function of other organs can be preserved for many years. In patients with advanced AA amyloidosis renal failure with the subsequent necessity for dialysis can often no longer be prevented. These patients should be treated to prevent involvement of the stomach, intestines and heart.


Assuntos
Amiloidose , Febre Familiar do Mediterrâneo , Amiloidose/diagnóstico , Amiloidose/terapia , Colchicina , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/tratamento farmacológico , Febre Familiar do Mediterrâneo/genética , Humanos , Proteína Antagonista do Receptor de Interleucina 1 , Síndrome
18.
Acta Haematol ; 143(4): 304-311, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32340017

RESUMO

Amyloidosis is a group of complex diseases caused by extracellular deposition of pathological insoluble fibrillary protein in organs and tissues and may result in severe organ dysfunction. Despite the etiological heterogeneity of systemic amyloidosis, the clinical manifestations of the different forms of amyloidosis largely overlap and depend upon the effected organ. The signs and symptoms that should raise suspicion for the potential diagnosis of amyloidosis are usually nonspecific; therefore, establishing the diagnosis is difficult, and early diagnosis requires clinical suspicion. Light chain (AL) amyloidosis may present with highly specific signs such as macroglossia and periorbital purpura, but these signs are insensitive. Amyloidosis is still underdiagnosed, even though treatments are now available and are effective in improving patient's survival and quality of life. Cardiac amyloidosis is the major determinant of survival, and the earlier it is detected the better the survival. All MGUS patients should be routinely screened for AL amyloidosis by a focused history and physical examination and routine assessment of urine albumin. The aim of this review is to provide clinicians with knowledge about the signs and symptoms that raise the suspicion of amyloidosis, bearing in mind the importance of early diagnosis of this disease.


Assuntos
Amiloidose/diagnóstico , Amiloidose/etiologia , Amiloidose/metabolismo , Amiloidose/terapia , Animais , Diagnóstico Diferencial , Suscetibilidade a Doenças , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico , Amiloidose de Cadeia Leve de Imunoglobulina/etiologia , Amiloidose de Cadeia Leve de Imunoglobulina/metabolismo , Amiloidose de Cadeia Leve de Imunoglobulina/terapia , Masculino , Pessoa de Meia-Idade , Especificidade de Órgãos , Fenótipo
19.
Dtsch Arztebl Int ; 117(10): 159-166, 2020 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-32295695

RESUMO

BACKGROUND: Systemic amyloidosis is a multi-system disease caused by fibrillary protein deposition with ensuing dysfunction of the affected organ systems. Its diagnosis is often delayed because the manifestations of the disease are variable and non-specific. Its main forms are light chain (AL) amyloidosis and transthyretinrelated ATTR amyloidosis, which, in turn, has both a sporadic subtype (wildtype, ATTRwt) and a hereditary subtype (mutated, ATTRv). METHODS: This review is based on pertinent publications that were retrieved by a selective search in PubMed covering the years 2005 to 2019. RESULTS: No robust epidemiological figures are available for Germany to date. Both AL amyloidosis and hereditary ATTR amyloidosis are rare diseases, but the prev - alence of ATTRwt amyloidosis is markedly underestimated. The diagnostic algorithm is complex and generally requires histological confirmation of the diagnosis. Only cardiac ATTR amyloidosis can be diagnosed non-invasively with bone scintigraphy once a monoclonal gammopathy has been excluded. AL amyloidosis can be considered a complication of a plasma cell dyscrasia and treated with reference to patterns applied in multiple myeloma. Despite the availability of causally directed treatment, it has not yet been possible to reduce the mortality of advanced cardiac AL amyloidosis. Three drugs (tafamidis, patisiran, and inotersen) are now available to treat grade 1 or 2 polyneuropathy in ATTRv amyloidosis, and further agents are now being tested in clinical trials. It is expected that tafamidis will soon be approved in Germany for the treatment of cardiac ATTR amyloidosis. CONCLUSION: The diagnosis of amyloidosis is difficult because of its highly varied presentation. In case of clinical suspicion, a rapid, targeted diagnostic evaluation and subsequent initiation of treatment should be performed in a specialized center. When the new drugs to treat amyloidosis become commercially available, their use and effects should be documented in nationwide registries.


Assuntos
Amiloidose/diagnóstico , Amiloidose/terapia , Alemanha , Humanos
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