Clinical characteristics of patients with systemic amyloidosis involved in digestive tract / 中华消化杂志

Objective:To study the clinical characteristics and endoscopic manifestations of patients with systemic amyloidosis involved in digestive tract.Methods:Clinical and endoscopic features, biopsy locations and positive rate of patients with systemic amyloidosis involved in digestive tract at Peking Union Medical College Hospital from December, 1991 to December, 2004 (1991 to 2004 diagnosed group, 18 cases) and from March 17th, 2009 to November 4th, 2020 (2009 to 2020 diagnosed group, 47 cases) were retrospectively analyzed and compared. Independent sample t test, Mann-Whitney U test and chi-square test were used for statistical analysis. Results:Among 47 patients in 2009 to 2020 diagnosed group, 41 were primary amyloid light chain (AL) amyloidosis, and the age of onset was older than that of 1991 to 2004 diagnosed group ((57.15±9.10) years old vs. (50.75±10.90) years old), and the time from disease onset to diagnosis was shorter than that of 1991 to 2004 diagnosed group ((13.48±11.72) months vs. (26.38±23.02) months), and the differences were statistically significant ( t=2.08 and -2.13, P=0.048 and 0.047). There was no significant difference in time from disease onset to diagnosis between patients with gastrointestinal manifestations at disease onset and patients without gastrointestinal manifestations at disease onset (10.5 months (6.0 months, 17.3 months) vs.14.0 months (5.8 months, 25.0 months), P>0.05). Among primary AL amyloidosis patients in 2009 to 2020 diagnosed group, weight loss was the most common clinical symptom, the proportion of patients was 87.8%(36/41); secondary was gastrointestinal bleeding, among which 18 patients (43.9%) were stool occult blood test positive and 4 patients (9.8%) were with melena or bloody stool. The endoscopic features of patients with biopsy-confirmed digestive tract involvemen vary, including mucosa hemorrhage and oozing of blood in 4 cases, fragile mucosa and easy to bleed in 3 cases, and 4 cases with bulged mucosa and all the 4 cases of biopsy at bulged mucosa was positive. Gingiva and tongue were the most common biopsy locations and the positive rate of biopsy was ≥60.0%. Rectal mucosa biopsy was performed in 15 patients and 6 were Congo red staining positive. Heart or kidney biopsy was performed in 3 and 6 patients, and the number of positive cases was 2 and 4, respectively. Conclusions:Weight loss and gastrointestinal bleeding are the common gastrointestinal symptoms of primary AL amyloidosis. The common endoscopic manifestations included mucosal bleeding, fragile and bulged mucosa. Biopsy at multiple locations according to experience may help earlier diagnosis and treatment.

Systemic amyloidosis manifestation in a patient with psoriatic arthritis

Abstract Systemic amyloidosis secondary to psoriatic arthritis is rare, and published data are based mainly on case reports and are associated with increased mortality. This is the report of a patient with long-term psoriatic arthritis and chronic sialadenitis, who showed an inadequate response to therapy. The diagnosis of secondary amyloidosis was attained through biopsies of genital skin lesions. Although very rare, it is important that dermatologists and general practitioners consider the possibility of amyloidosis in patients with chronic inflammatory diseases, since an early intervention can be implemented, and thus, the prognosis of this condition can be improved.

Función de la amiloidosis en la neuropatía periférica de los pacientes con anemia drepanocítica / Function of amyloidosis in peripheral neuropathy of patients with sickle cell anemia

Introducción: El estado inflamatorio que acompaña la anemia drepanocítica puede asociarse a amiloidosis sistémica, complicación que ha sido comunicada en esta enfermedad, que también puede afectar los nervios periféricos por el proceso vaso-oclusivo crónico en esta. Objetivos: Evaluar la función de la amiloidosis en el desarrollo de la neuropatía periférica en un grupo de pacientes con hemoglobinopatía SS. Métodos: Para determinar si la amiloidosis participa en el desarrollo de neuropatía periférica en los pacientes con drepanocitosis se estudiaron 45 sujetos mediante evaluación clínica, biopsia de grasa abdominal y estudio de conducción nerviosa, evaluándose si existía relación entre ambos trastornos. Resultados: Se encontraron signos de neuropatía predominantemente sensitiva. Las alteraciones del estudio de conducción fueron constantes, comprobándose que la existencia de amiloidosis aumentó la frecuencia y la severidad de la neuropatía en estos pacientes. La biopsia de nervio peroneo demostró amiloidosis en dos casos. Conclusiones: Los resultados indican que la amiloidosis se relaciona con el desarrollo de neuropatía periférica en los pacientes con anemia drepanocítica(AU)

Introduction: The inflammatory condition that accompanies sickle cell anemia can be associated to systemic amyloidosis, a complication of this disease which can also affect the peripheral nerves because of its chronic vaso-occlusive process. Objectives: To assess the function of amyloidosis in the development of peripheral neuropathy in a group of patients with hemoglobinopathy SS. Methods: In order to determine if amyloidosis takes part in the development of peripheral neuropathy in patients with sickle cells disease, 45 subjects were studied by means of clinical evaluation, biopsy of abdominal fat and a study of nervous conduction, being evaluated if there was any relation between both disorders. Results: Signs of predominantly sensitive neuropathy were found, and the alterations of the study of conduction were constant, being verified that the existence of amyloidosis increased the frequency and the severity of neuropathy in these patients. Peroneal nerve´s biopsy demonstrated that amyloidosis was present in two cases. Conclusions: The results indicate that amiyloidosis is related to the development of peripheral neuropathy in patients with sickle cell anemia(AU)

Paciente joven con disfonía: un caso de amiloidosis poco habitual / Young patient with dysphonia: a case of unusual amyloidosis

La amiloidosis es una enfermedad caracterizada por el depósito extracelular de fibrillas compuestas por subunidades de bajo peso molecular de una variedad de proteínas. Puede ser clasificada según su distribución y según la proteina fibrilar constituyente. La prevalencia varía según el área geográfica estudiada y el pronóstico depende del tejido u órgano afectado. Presentamos el caso de un varón jóven con disfonía de larga evolución sin otros síntomas acompañantes en cuya nasofibroscopía se observaron una tumoración en regíon laríngea. En la anatomía patológica se observó material hialino congofílico compatible con amiloide. Se realizó además una biopsia rectal donde también se observó material amiloide. Debido a la poca sintomatología y a la ausencia de compromiso de un órgano que comprometa la vida, en este paciente se optó por un manejo conservador.

Amyloidosis is a disease characterized by extracellular deposition of fibrils made of lowmolecular weight subunits of a variety of proteins. It can be classified according to itsdistribution and the fibrillar protein constituent. The prevalence varies by thegeographical area studied and the prognosis depends on the tissue or organ concerned.We present the case of a young man with longstanding dysphonia without otheraccompanying symptoms whose nasofibroscopy showed a tumor in the laryngeal region.In the pathological material, hyaline congophillic material compatible with amyloid wasobserved. A rectal biopsy was also performed and amyloid material was also observed.Due to the few symptoms and the absence of organ involvement that compromises life,we opted for a conservative management in this patient.

Amiloidosis sistémica con compromiso cutáneo asociada a mieloma múltiple: presentación de un caso / Systemic amyloidosis with cutaneous involvement associated with multiple myeloma: a case report

Las amiloidosis son un grupo de enfermedades que se caracterizan por el depósito extracelular de material amiloide en órganos y tejidos, afectando su función normal. Se clasifican según la proteína fibrilar involucrada y, de acuerdo a su distribución, en localizada o sistémica.Presentamos una paciente con amiloidosis sistémica asociada a mieloma múltiple con compromiso esofágico y cutáneo. El interés de la presentación radica en la importancia del reconocimiento de las lesiones cutáneas características, para realizar diagnóstico precoz de esta patología.

Amyloidosis is a group of diseases characterized by the extracellular deposition of amyloid in organs and tissues affecting their normal function. They are classified by the fibrillar protein involved and, according distribution, in localized or systemic. A female patient with systemic amyloidosis associated with multiple myeloma and esophageal and cutaneous involvement is reported. Interest of this presentation is the importance in recognizing the characteristic skin lesions to make an early diagnosis of this disease.

A Case of Primary Systemic Amyloidosis Confirmed by Various Diagnostic Tools and Repeated Skin Biopsies / 대한피부과학회지

Amyloidosis is a group of disorders resulting from the extracellular deposition of amyloid fibrils in tissues and organs. Primary systemic amyloidosis may be myeloma-associated or idiopathic. It involves the kidney, heart, liver, peripheral nerves, autonomic nervous system and skin. We report a case of a 76 year-old woman with primary systemic amyloidosis who suffered from ecchymotic purpura on the periorbital, flexural area with hemorrhagic bulla, and macroglossia for two years. She showed typical symptoms of AL amyloidosis, and while primary systemic amyloidosis was suspected from electrophoresis results, no amyloid was found in the skin, tongue, and bone marrow. Upon her admission due to panperitonitis from diverticulitis, she was diagnosed with primary systemic amyloidosis after amyloid deposition was confirmed in the skin and colon biopsy. She had been treated with bortezomib, but she expired from methicillin-resistant Staphylococcus aureus septic shock.

Primary systemic amyloidosis: Three different presentations.

Primary systemic amyloidosis is a rare disease. We report three cases of primary systemic amyloidosis, one case with multiple myeloma and two cases without any hematological abnormality. Purpuric lesions were the only presenting symptoms of the patient with multiple myeloma and only on investigation, myeloma was detected. Bone marrow biopsy and serum and urine electrophoresis were normal in remaining two cases. These two patients presented with typical waxy lesions on face. Cutis verticis gyrata was present in one case and carpal tunnel syndrome was seen in other case as an additional diagnostic clue. Macroglossia was present in all three cases. Diagnosis was confirmed in all three cases by biopsy using haematoxylin and eosin staining and Congo red staining. Polarized microscopy was not done because of unavailability.

Generalized Primary Amyloid Lymphadenopathy

Systemic amyloidosis is a disease that displays deposition of insoluble polymeric protein fibrils in tissues and organs. We report here on a case of a 64-year-old woman who initially presented with multiple enlarged lymph nodes. Computed tomography showed multiple enlarged lymph nodes in the mediastinal, lower cervical, supraclavicular, axillary and abdominal areas. Excision biopsy of the cervical lymph nodes and the subsequent histopathology showed amorphous eosinophilic material deposits, and these revealed apple-green birefringence on a polarizing microscopic examination on the Congo-red stained slide. The patient was diagnosed with amyloidosis and she received chemotherapy consisting of melphalan and dexamethasone. During chemotherapy, she was diagnosed with breast cancer. After modified unilateral radical mastectomy, the dexamethasone was restarted and this therapy resulted in stable disease.

Amiloidose sistêmica primária AL: relato de caso e considerações associadas / Primary systemic AL amyloidosis: case report and associated considerations

Amiloidose não é uma única doença, e sim, uma condição presente em um grupo de doenças que tem em comum a deposição extracelular patológica de proteínas insolúveis em órgãos ou tecidos. Todas as fibrilas amiloides compartilham uma mesma estrutura secundária, a conformação em folha -pregueada, e um componente não fibrilar idêntico, a pentraxina amiloide sérica P (APS). Relatamos o caso de um paciente com 62 anos, portador de amiloidose sistêmica do tipo AL. O diagnóstico foi constatado através de exames histopatológicos e de imagens. Após diagnóstico, paciente foi submetido a seis ciclos de quimioterapia com vincristina, adriamicina e dexametasona (VAD). Após o qual, foi realizado manutenção com ciclofosfamida, 600mg por um dia, e dexametasona, 40mg por quatro dias repetidos a cada 28 dias. Paciente evoluiu com melhora da sintomatologia e retorno às suas atividades habituais.

Amyloidosis is a condition inherent to a group of diseases, which exhibit the common feature of pathological extracellular deposition of insoluble proteins in organs or tissues. All amyloid fibrils share the same secondary structure, the ?-pleated sheet conformation, and a nonfibrillar identical component, the serum amyloid pentraxin (SAP). We report a 62-year-old man with systemic AL amyloidosis. Diagnosis was made through histopathology and imaging. The patient underwent 6 cycles of vincristine, adriamycin and dexamethasone (VAD), with maintenance with cyclophosphamide 600mg for 1 day and dexamethasone 40mg/day for 4 days every 28 days. The patient was relieved of his symptoms and returned to his daily activities.

A Case of Systemic Amyloidosis with Pancreatic Involvement Mimicking Autoimmune Pancreatitis / 대한소화기학회지

Systemic amyloidosis is a disorder characterized by extracellular deposition of amyloid in various organs and tissues including the kidney, heart, and liver. However, pancreatic involvement is rare, and has not been reported in Korea. Systemic amyloisosis involving pancreas needs to be differentiated from several pancreatic diseases because of diffuse pancreatic enlargement and partial stricture or obstruction of main pancreatic duct. Recently, we experienced a 60-year old man who was suspected as autoimmune pancreatitis or infiltrative disorders on imaging studies, and finally diagnosed as systemic amyloidosis involving pancreas and liver on biopsy examination. We report the case with review of the relevant literatures.

Manifestaciones osteoarticulares por amiloidosis sistémica / Osteoarticular manifestations by systemic amyloidosis

La amiloidosis es un grupo de enfermedades cuyo común denominador es el depósito extracelular de fibrillas insolubles derivadas de proteínas en órganos y tejidos. De acuerdo a su etiología y al tipo de proteína depositada existen varias clases de amiloi-dosis. A pesar que la incidencia de amiloidosis sisté -mica secundaria (AA) ha disminuido notoriamente con el advenimiento de drogas modificadoras de la enfermedad (DMARD) y terapia biológica, continúa siendo el tipo de amiloidosis más frecuentemente observada por el reumatólogo. En este artículo revisamos la historia, clasificación, epidemiología, diagnóstico y tratamiento de la amiloidosis sistémica haciendo énfasis en las manifestaciones osteoar-ticulares que produce la enfermedad y en las distintas enfermedades reumatológicas que pueden originar una amiloidosis secundaria (AA). Así mismo publicamos un material fotográfico recopilado durante 20 años en diferentes centros de reumatología del país que es de gran ayuda para realizar el diagnóstico clínico de esta infrecuente patología.

Amyloidosis is a generic term that refers to the extracellular tissue deposition of fibrils composed of low molecular weight subunits of a variety of proteins. Amyloidosis classification depends on its etiology and subtype of protein involved. Systemic secondary amyloidosis (AA) is the most frequent subtype seen on rheumatology services because rheumatoid arthritis is currently the most frequent cause of AA, although its incidence has been declined because a better treatment of rheumatoid arthritis with disease-modifying anti-rheumatic drugs (DMARD). In this review we provide a general overview of the pathogenesis, clinical manifestations, diagnosis, and treatment of the systemic amyloidosis, emphasizing on the rheu-matic manifestations of these disorders. Besides, we present a photographic material obtained in the last 20 years in several rheumatologic centers in our country that it has a crucial role in the diagnosis and follow-up of this infrequent pathology.

A Case of Primary Systemic Amyloidosis in a Patient with Multiple Myeloma / 대한피부과학회지

Primary systemic amyloidosis is associated with plasma cell dyscrasia, such as multiple myeloma. The amyloid fibrils in the disease are composed of amyloid light (AL) protein that is derived from immunoglobulin L chain. Cutaneous manifestations are presented in about 20~40% of patients with mainly petechia, purpura on flexural area of the body and waxy, translucent papulonodules. We report a case of primary systemic amyloidosis associated with multiple myeloma occurring in a 76-year old woman who had suffered from ecchymotic purpura on periorbital and flexural area with hemorrhagic bulla for one year. She also had macroglossia with grouped papulonodules on her tongue, and peripheral neuropathy. The final diagnosis was confirmed by positive PAS, Congo-red stain and specific serum/urine electrophoresis. She had been treated with several cycles of chemotherapy; however, she expired from various complications of the disease, such as congestive heart failure, renal failure, and secondary bacterial infection.

Systemic Amyloidosis after Operation of Gastric Cancer

Systemic amyloidosis after gastric cancer surgery is a very rare phenomenon. Less than ten such cases have been reported in the international literature. Although systemic amyloidosis has been reported to be associated with lymphoma, multiple myeloma, and renal cell carcinoma, its association with gastric cancer remains unclear. We report a case of a 64-year-old male who developed systemic amyloidosis 24 months after a Billroth-I gastrectomy for gastric cancer, and provide a brief review of the literature.

A case of systemic amyloidosis involving liver, kidney and peritoneum after cholecystectomy / 대한내과학회지

Amyloidosis is a heterogenous group of often fatal disorders characterized by extracellular deposition of a proteinaceous material with a unique fibrillar form in various tissues and organs. Deposition of amyloid may cause widespread dysfunction of the involved organs. Recently, we experienced a case of 40-year-old male patient with nephrotic syndrome, uncontrolled ascites and jaundice, which developed after cholecystectomy. We confirmed systemic amyloidosis involving kidney, liver and peritoneum by kidney and liver and peritoneum biopsy. The case that, having about a month of incubation period after cholecystectomy, amyloidosis occurred in a healthy man before the operation, and that amyloid was deposited in the peritoneum site incised during the operation provides grounds that amyloidosis may be triggered by cholecystectomy. Given the rarity of this case, the following is a report of this case and a review of the relevant literatures.

A Case of Systemic Amyloidosis

Systemic amyloidosis is an uncommon disease characterized by deposits of fibrillar aggregates of monoclonal immunoglobuloin light chains in vital organs. This amyloid deposit cause cardiac or renal dysfunction and ultimately, death. Cardiac amyloidosis may be asymptomatic or important causes of progressive heart failure and refractory arrhythmia. Cardiac involvement from AL amyloidosis is rapidly fatal. The amyloidoses are classified according to the biochemical nature of the fibril-forming protein. Cardiac amyloidosis is common in primary (AL) and heterofamilial amyloidosis and very rare in the secondary (AA) form. As we experienced a case of systemic amyloidosis affected heart, liver and kidney, which was confirmed by histology. We present a 57-year-old female case with literature review.

A Case of Primary Systemic Amyloidosis Predominantly Presenting Nephrotic Syndrome and Peripheral Neuropathy / 대한신장학회잡지

Primary systemic amyloidosis is a progressive disease that is frequently fatal. Nephrotic syndrome is present in almost one-third, congestive heart failure in one-quarter, and peripheral neuropathy in one-sixth of patients at the time of diagnosis. If heart or renal failure are presented, survival rate is poor. We experienced a case of a 66 year-old female patient who had complained lower leg edema and paresthesia of extremities for about 5 months. The laboratory findings were consistent with nephrotic syndrome, but the lower leg edema was non-pitting and the cause of paresthesia was unknown. We performed kidney and nerve biopsy and confirmed a case of primary systemic amyloidosis. In this case, presence of postural hypotension, probable cardiac involvement and relatively long spikes along the outside of the glomerular capillary loops on methenamine silver stain is suggestive of poor prognosis. We can predict chronic renal failure and congestive heart failure in the course of this case. We report a case of primary systemic amyloidosis predominantly presenting nephrotic syndrome and peripheral neuropathy with review of related literatures.

Primary system amyloidosis / 대한피부과학회지

Amyloidosis is a disease complex associated with deposition of inscluble fibrillar protein in vnrious tissues of the body. Since the term, amyloidosis was first introduced by Virchow in 1853, there have been many reports in English literature, but only a few cases of iriinary systemic amyloidosis have been reported in Korea. A 56-year-old male was seven for facial purpuras, macroglossia, myilgia and arthralgia for 5 years. Histologically, the skin biopsy specimen showed amorphous, faintly eosinophilic and fissured masses of amyloid in the upper dermis that demonstrated characteristic green brefringence on Congo red staining when viewed under polarized light. Electron microscopic exanintion showed that nonbranching and nonanastomosing straigh. fibrils are irregularly arranged arouned tlie collagen fibers. Therefore, he was diagncsed with primary systemic amyloidsis by the characteristic clinical, histopathologic and ultrastructural findings.

Primary Systemic Amyloidosis involved the Conjunctiva

Amyloid may involve the conjunctiva without deposits of the skin of the eyelid in primary localized amyloidosis, but extremely rare in primary systemic amyloidosis. We describe the clinicopathologic features of a case of primary systemic amyloidosis which invloved the conjunctiva and larynx. A 58-years-old woman presented a conjuctival mass of the left eye. Slit lamp microscopy showed a pinkish, flat elevated mass on the bulbar conjunctiva, fornix, and upper tarsal conjunctiva. There was no history of antecedent ocular or systemic diseases. She had undergone total laryngectomy for laryngeal amyloidosis. Microscopically, a pale amorphous eosinophilic material was deposited in the subcojunctival tissue. The deposit showed metachromasia with crystal violet, and dichroism and birefringence in polarized light following Congo red staining. Electron microscopically amyloid was comprised of linear add non-branching fibrils, which were about 11nm in width.