[P162] A case of systemic AL Amyloidosis

( Dae Yeon Kim ),( Ji Hyuck Hong ),( Dong Won Lee ),( Tae Hyung Ryu ),( Hyo Hyun Ahn ),( Young Chul Kye ),( Soo Hong Seo ) 대한피부과학회 2017 대한피부과학회 학술발표대회집 Vol.69 No.1

Cutaneous amyloidosis may be classified into two categories: localized cutaneous amyloidosis in which there is no evident systemic involvement, and systemic amyloidosis. AL (Amyloidosis Light-chain) amyloidosis is the most common type of systemic amyloidosis, and occurs as a result of an underlying plasma cell dyscrasia or multiple myeloma. Its clinical manifestations are extremely variable. Periorbital ecchymoses and macroglossia are very strongly suggestive clinical features and multiple vital organ dysfunction is common. Most common adverse effects include heart complications, such as heart failure and irregular heartbeat, affecting more than one third of AL amyloidosis patients. A 79-year-old man was presented with ruptured large bulla on right lower leg and yellowish papules on anterior neck for an unknown period. He had recent history of heart failure and consulted to us for wound care. Multiple ecchymoses were found on face, especially periorbital area, and macroglossia was observed. We took a skin biopsy under the impression of systemic amyloidosis and the diagnosis was confirmed by histopathologic findings. Congo red stain revealed amyloid deposits in dermal vessels. We referred him to hematologic department to evaluate plasma cell dyscrasia including multiple myeloma. Herein, we report an interesting case of an old man who has systemic AL amyloidosis with various typical features.

Clinical features and outcomes of systemic amyloidosis with gastrointestinal involvement: a single-center experience

( A Young Lim ),( Ji Hyeon Lee ),( Ki Sun Jung ),( Hye Bin Gwag ),( Do Hee Kim ),( Seok Jin Kim ),( Ga Yeon Lee ),( Jung Sun Kim ),( Hee Jin Kim ),( Soo Youn Lee ),( Jung Eun Lee ),( Eun Seok Jeon ),( 대한내과학회 2015 The Korean Journal of Internal Medicine Vol.30 No.4

Background/Aims: The gastrointestinal (GI) tract often becomes involved in patients with systemic amyloidosis. As few GI amyloidosis data have been reported,we describe the clinical features and outcomes of patients with pathologically proven GI amyloidosis. Methods: We identified 155 patients diagnosed with systemic amyloidosis between April 1995 and April 2013. Twenty-four patients (15.5%) were diagnosed with GI amyloidosis using associated symptoms, and the diagnoses were confirmed bydirect biopsy. Results: Among the 24 patients, 20 (83.3%) had amyloidosis light chain (AL), three (12.5%) had amyloid A, and one (4.2%) had transthyretin-related type amyloidosis. Their median age was 57 years (range, 37 to 72), and 10 patients were female (41.7%).The most common symptoms of GI amyloidosis were diarrhea (11 patients, 45.8%), followed by anorexia (nine patients, 37.5%), weight loss, and nausea and/ or vomiting (seven patients, 29.2%). The histologically confirmed GI tract site in AL amyloidosis was the stomach in 11 patients (55.0%), the colon in nine (45.0%), the rectum in seven (35.0%), and the small bowel in one (5.0%). Patients with GIinvolvement had a greater frequency of organ involvement (p = 0.014). Median overall survival (OS) in patients with GI involvement was shorter (7.95 months; range, 0.3 to 40.54) than in those without GI involvement (15.84 months; range, 0.0 to 114.53; p = 0.069) in a univariate analysis. A multivariate analysis of prognostic factors for AL amyloidosis revealed that GI involvement was not a significant predictorof OS (p = 0.447). Conclusions: The prognosis of patients with AL amyloidosis and GI involvement was poorer than those without GI involvement, and they presented with more organ involvement and more advanced disease than those without organ involvement.

Direct Oral Anticoagulants in Patients With Cardiac Amyloidosis: A Systematic Review and Meta-Analysis

Lacy Spencer C.,Kinno Menhel,Joyce Cara,Yu Mingxi D. 대한심부전학회 2024 International Journal of Heart Failure Vol.6 No.1

Background and Objectives Atrial fibrillation is common in patients with cardiac amyloidosis. However, the optimal anticoagulation strategy to prevent thromboembolic events in patients with cardiac amyloidosis and atrial fibrillation is unknown. This systematic review and meta-analysis compares direct oral anticoagulants (DOACs) vs. vitamin K antagonists (VKAs) in patients with cardiac amyloidosis and atrial fibrillation. Methods We performed a systematic literature review to identify clinical studies of anticoagulation therapies for patients with cardiac amyloidosis and atrial fibrillation. The primary outcomes of major bleeding and thrombotic events were reported using random effects risk ratios (RRs) with 95% confidence interval (CI). Results Our search yielded 97 potential studies and evaluated 14 full-text articles based on title and abstract. We excluded 10 studies that were review articles or did not compare anticoagulation. We included 4 studies reporting on 1,579 patients. The pooled estimates are likely underpowered due to small sample sizes. There was no difference in bleeding events for patients with cardiac amyloidosis and atrial fibrillation treated with DOACs compared to VKAs with a RR of 0.64 (95% CI, 0.38–1.10; p=0.10). There were decreased thrombotic events for patients with cardiac amyloidosis and atrial fibrillation treated with DOACs compared to VKAs with a RR of 0.50 (95% CI, 0.32–0.79; p=0.003). Conclusions This systematic review and meta-analysis suggests that DOACs are as safe and effective as VKAs in patients with cardiac amyloidosis and atrial fibrillation. However, more data are needed to investigate clinical differences in anticoagulation therapy in this patient population. Background and Objectives Atrial fibrillation is common in patients with cardiac amyloidosis. However, the optimal anticoagulation strategy to prevent thromboembolic events in patients with cardiac amyloidosis and atrial fibrillation is unknown. This systematic review and meta-analysis compares direct oral anticoagulants (DOACs) vs. vitamin K antagonists (VKAs) in patients with cardiac amyloidosis and atrial fibrillation. Methods We performed a systematic literature review to identify clinical studies of anticoagulation therapies for patients with cardiac amyloidosis and atrial fibrillation. The primary outcomes of major bleeding and thrombotic events were reported using random effects risk ratios (RRs) with 95% confidence interval (CI). Results Our search yielded 97 potential studies and evaluated 14 full-text articles based on title and abstract. We excluded 10 studies that were review articles or did not compare anticoagulation. We included 4 studies reporting on 1,579 patients. The pooled estimates are likely underpowered due to small sample sizes. There was no difference in bleeding events for patients with cardiac amyloidosis and atrial fibrillation treated with DOACs compared to VKAs with a RR of 0.64 (95% CI, 0.38–1.10; p=0.10). There were decreased thrombotic events for patients with cardiac amyloidosis and atrial fibrillation treated with DOACs compared to VKAs with a RR of 0.50 (95% CI, 0.32–0.79; p=0.003). Conclusions This systematic review and meta-analysis suggests that DOACs are as safe and effective as VKAs in patients with cardiac amyloidosis and atrial fibrillation. However, more data are needed to investigate clinical differences in anticoagulation therapy in this patient population.

Unusual Combination of Tracheobronchopathia Osteochondroplastica and AA Amyloidosis

Gökhan Klrbas,Canan Eren Dagll,Abdullah Çetin Tanrlkulu,Fetin Ylldlz,Yasar Bükte,Abdurrahman Senyigit,Esen Klyan 연세대학교의과대학 2009 Yonsei medical journal Vol.50 No.5

Tracheobronchopathia osteochondroplastica (TO) is a rare disorder of unknown cause characterized by the presence of multiple submucosal osseous and/or cartilaginous nodules that protrude into the lumen of the trachea and large bronchi. A simultaneous diagnosis of TO and amyloidosis is rarely reported. In this report, a case initially suspected to be asthma bronchiole that could not be treated, was radiologically diagnosed as TO, and also secondary amyloidosis is presented. A 53 years, man patient reported a 3 years history of dyspnea. Pulmonary function tests (PFTs) showed an obstructive pattern. Chest X-rays revealed right middle lobe atelectasis. FOB and CT detected nodular lesions in the trachea and in the anterior and lateral walls of the main bronchi. AA amyloidosis was confirmed by endobronchial biopsy. In the abdominal fat pad biopsy, amyloidosis was not detected. Asthma bronchiole was excluded by PFTs. This case illustrates that it is possible for TO and amyloidosis to masquerade as asthma. TO and amyloidosis should be suspected in patients of older ages with asthma and especially with poorly treated asthmatic patients. Although nodular lesions in the anterior and lateral tracheobronchial walls are typical for TO, a biopsy should be obtained to exclude amyloidosis. Tracheobronchopathia osteochondroplastica (TO) is a rare disorder of unknown cause characterized by the presence of multiple submucosal osseous and/or cartilaginous nodules that protrude into the lumen of the trachea and large bronchi. A simultaneous diagnosis of TO and amyloidosis is rarely reported. In this report, a case initially suspected to be asthma bronchiole that could not be treated, was radiologically diagnosed as TO, and also secondary amyloidosis is presented. A 53 years, man patient reported a 3 years history of dyspnea. Pulmonary function tests (PFTs) showed an obstructive pattern. Chest X-rays revealed right middle lobe atelectasis. FOB and CT detected nodular lesions in the trachea and in the anterior and lateral walls of the main bronchi. AA amyloidosis was confirmed by endobronchial biopsy. In the abdominal fat pad biopsy, amyloidosis was not detected. Asthma bronchiole was excluded by PFTs. This case illustrates that it is possible for TO and amyloidosis to masquerade as asthma. TO and amyloidosis should be suspected in patients of older ages with asthma and especially with poorly treated asthmatic patients. Although nodular lesions in the anterior and lateral tracheobronchial walls are typical for TO, a biopsy should be obtained to exclude amyloidosis.

Incidence, Cause of Death, and Survival of Amyloidosis in Korea: A Retrospective Population-Based Study

Jang Shin Yi,Kim Darae,최진오,전은석 대한심부전학회 2021 International Journal of Heart Failure Vol.3 No.3

Background and Objectives We sought to assess incidence, cause of death, and survival for amyloidosis. We acquired amyloidosis data from the National Health Insurance Service in Korea from 2006 through 2017 (n=2,233; male 53.5%). Methods We calculated the age-standardized incidence rate, analyzed the survival rate (SR) using the Kaplan-Meier method, and analyzed the death risk using Cox proportional hazards methods. Results The mean age was 57.0±16.7 years in males and 56.8±15.6 years in females (p=0.795). The proportion of death was 34.7%. The causes of death were endocrine, nutritional, and metabolic diseases (33.9%), malignant neoplasm (20.8%), and diseases of the circulatory system (9.68%). The overall age-standardized incidence rate was 0.47 persons per 100,000 persons in 2017. Overall, the 10-year SR for amyloidosis was 57.7%. Adjusted hazard ratios were 9.16 among 40s′, 16.1 among 50s′, 30.3 among 60s′, 48.7 among 70s′, 80.1 among people 80 years or older, and 1.21 in the medium-level socioeconomic position group. Conclusions The age-standardized incidence rate of amyloidosis was about 0.5 persons per 100,000 persons in 2017. The 10-year SR of amyloidosis was about 58%. The most common cause of death was endocrine, nutritional, and metabolic diseases. The risk of death from amyloidosis increased with age and medium socioeconomic position. Background and Objectives We sought to assess incidence, cause of death, and survival for amyloidosis. We acquired amyloidosis data from the National Health Insurance Service in Korea from 2006 through 2017 (n=2,233; male 53.5%). Methods We calculated the age-standardized incidence rate, analyzed the survival rate (SR) using the Kaplan-Meier method, and analyzed the death risk using Cox proportional hazards methods. Results The mean age was 57.0±16.7 years in males and 56.8±15.6 years in females (p=0.795). The proportion of death was 34.7%. The causes of death were endocrine, nutritional, and metabolic diseases (33.9%), malignant neoplasm (20.8%), and diseases of the circulatory system (9.68%). The overall age-standardized incidence rate was 0.47 persons per 100,000 persons in 2017. Overall, the 10-year SR for amyloidosis was 57.7%. Adjusted hazard ratios were 9.16 among 40s′, 16.1 among 50s′, 30.3 among 60s′, 48.7 among 70s′, 80.1 among people 80 years or older, and 1.21 in the medium-level socioeconomic position group. Conclusions The age-standardized incidence rate of amyloidosis was about 0.5 persons per 100,000 persons in 2017. The 10-year SR of amyloidosis was about 58%. The most common cause of death was endocrine, nutritional, and metabolic diseases. The risk of death from amyloidosis increased with age and medium socioeconomic position.

Incidence, Diagnosis and Prognosis of Cardiac Amyloidosis

이민호,Seung-Pyo Lee,Yong-Jin Kim,손대원 대한심장학회 2013 Korean Circulation Journal Vol.43 No.11

Background and Objectives: Cardiac involvement is frequent in systemic amyloidosis and is the most important determinant of the clinical outcome. The aims of this study were to assess the incidence and prognosis of cardiac amyloidosis and discuss the diagnostic issues related to cardiac amyloidosis. Subjects and Methods: We retrospectively studied all patients diagnosed with systemic amyloidosis who presented to our institution from January 1999 to December 2011. Results: Of the 129 patients with systemic amyloidosis, cardiac amyloidosis was diagnosed in 62 patients. At the 3 years’ follow-up of the patients with systemic amyloidosis, there was a statistically significant difference in mortality between patients with cardiac amyloidosis and the rest of the patients (58.1% vs. 37.3%, p=0.008). In the Cox proportional hazard model, old age {hazard ratio (HR) 18.336, p=0.006}, elevation of cardiac troponin I (cTNI) (HR 13.246, p=0.020), left ventricular (LV) systolic dysfunction (HR 5.137, p=0.041) and diastolic dysfunction (HR 64.595, p=0.022) were independently associated with survival in cardiac amyloidosis. In the diagnosis of monoclonal gammopathy, serum or urine protein electrophoresis was not sensitive enough to be used clinically compared to serum free light chain assay (35.8% vs. 96.4%). Conclusion: In systemic amyloidosis, cardiac involvement was the most important determinant of the prognosis, and old age, elevation of cTNI, LV systolic dysfunction and diastolic dysfunction were independently associated with survival in cardiac amyloidosis.

류마티스 관절염 환자에서 심장 조직 검사로 확진된 아밀로이드 단백 A 심장 아밀로이드증

황지원 ( Ji Won Hwang ),전은석 ( Eun Seok Jeon ),하정민 ( Jung Min Ha ),이우주 ( Woo Joo Lee ),김은 ( Eun Kim ),윤세효 ( Sehyo Yune ) 대한내과학회 2014 대한내과학회지 Vol.86 No.6

Amyloidosis can be identified by the deposition of amyloid fibrils in biopsy specimens from multiple organs, including the heart, kidney, skin, and bowel. Systemic amyloid protein A amyloidosis (AA amyloidosis) is commonly associated with chronic inflammatory diseases or chronic infectious conditions. Cardiac involvement in AA amyloidosis is found in < 1% of reported cases. Here, we report a case of cardiac AA amyloidosis confirmed by heart biopsy in a 54-year-old-female with a medical history of rheumatoid arthritis and stage 4 chronic kidney disease due to renal amyloidosis. She had suffered from progressive aggravation of dyspnea for 2 years. Infiltrative disease involving the heart was suspected by echocardiography, and the patient was diagnosed with AA amyloidosis involving the heart by cardiac biopsy. This is a rare case of cardiac involvement in a patient with systemic AA amyloidosis associated with rheumatoid arthritis. (Korean J Med 2014;86:739-743)

Case Reports : Primary Localized Cutaneous Nodular Amyloidosis Following Local Trauma

( Dong Yoon Lee ),( Young Jin Kim ),( Ji Yeoun Lee ),( Mi Kyeong Kim ),( Tae Young Yoon ) 대한피부과학회 2011 Annals of Dermatology Vol.23 No.4

Primary localized cutaneous nodular amyloidosis (nodular amyloidosis) is a rare and distinct type of amyloidosis, in which amyloid L deposition is limited to the skin and typically manifested as a tumefactive nodule on the acral sites. However, the definite cause of nodular amyloidosis is still unknown. Although it is relatively well known that the amyloid deposits in nodular amyloidosis originate from immunoglobulin light chains secreted by local plasma cells, traumatic injury to the skin has rarely been recognized as a triggering factor of nodular amyloidosis. Herein, we present a case of a 50-year-old male patient with primary localized cutaneous nodular amyloidosis, which occurred after local trauma, and discuss the relationship between traumatic damage and dermal amyloid L deposition. (Ann Dermatol 23(4) 515~518, 2011)

Imaging Findings and Literature Review of 18F-FDG PET/CT in Primary Systemic AL Amyloidosis

이주희,이가연,김석진,전은석,이경한,김병태,김기현,최준영 대한핵의학회 2015 핵의학 분자영상 Vol.49 No.3

Purpose Although several case reports and case series have described 18F-FDG PET/CT in amyloidosis, the value of 18F-FDG PET/CT for diagnosing amyloidosis has not been clarified. We investigated the imaging findings of 18F-FDG PET/CT in patients with primary systemic AL amyloidosis. Methods Subjects were 15 patients (M:F=12:3; age, 61.5± 7.4 years) with histologically confirmed primary systemic AL amyloidosis who underwent pretreatment 18F-FDG PET/ CT to rule out the possibility of malignancy or for initial workup of alleged cancer. For involved organs, visual and semiquantitative analyses were performed on 18F-FDG PET/ CTimages. In total, 22 organs (10 hearts, 5 kidneys, 2 stomachs, 2 colons, 1 ileum, 1 pancreas, and 1 liver) were histologically confirmed to have primary systemic AL amyloidosis. Results F-FDG uptake was significantly increased in 15 of the 22 organs (68.2 %; 10 hearts, 2 kidneys, 1 colon, 1 ileum, and 1 liver; SUVmax=7.0±3.2, range 2.1–14.1). However, in 11 of 15 PET-positive organs (78.6 %; 10 hearts and the ileum), it was difficult to differentiate pathological uptake from physiological uptake. Definitely abnormal 18F-FDG uptake was found in only 4 of the 22 organs (18.2 %; 2 kidneys, 1 colon, and the liver). 18F-FDG uptake was negative for pancreas and gastric lesions. Conclusions Although 18F-FDG PET/CT showed high uptake in two-thirds of the organs involving primary systemic AL amyloidosis, its sensitivity appeared to be low to make differentiation of pathological uptake from physiological uptake. However, due to the small number of cases, further study for the role of 18F-FDG PET/CT in amyloidosis will be warranted.

A case of panniculitis in multiple myeloma-associated amyloidosis

( Dong Hee Kim ),( Ji Hyun Kim ),( Yong Woo Oh ),( Byeong Hak Seo ),( Yu Sung Choi ),( Ho Seok Suh ) 대한피부과학회 2019 대한피부과학회 학술발표대회집 Vol.71 No.1

Multiple myeloma (MM) is a clonal malignant disease of the plasma cells, characterized by an uncontrolled production of a monoclonal immunoglobulin, anemia, lytic bone lesions and renal failure. Primary amyloidosis can either arise idiopathically or can be associated with plasma cell dyscrasia. MMassociated amyloidosis is found in 12-15% of myeloma patients. Cutaneous involvement of MM-associated amyloidosis may occur as the form of either a neoplastic infiltration or various nonspecific lesions, such as Sweet’s syndrome, pyoderma gangrenosum, vasculitis and bullous disorders. Panniculitis in MM-associated amyloidosis is rarely reported. A 66-year-old woman presented with 10-day history of multiple, tender, erythematous to violaceous nodules on both lower legs and trunk. She was initially diagnosed with MM-associated primary amyloidosis by gastroenterologist 1 month ago. There was no history of trauma or symptoms of infection. Tissue culture for bacteria and fungus were all negative. Laboratory tests showed normal range of blood cell counts, total calcium, serum amylase and lipase. Histopathologic findings showed prominent fat necrosis with calcium deposits and neutrophil dominant inflammatory cell infiltrates in the subcutaneous fat. She was diagnosed with panniculitis in MM-associated amyloidosis and treated with topical corticosteroids. Herein, we report a case of panniculitis in MM-associated amyloidosis.