Renal amyloidosis secondary to anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis is extremely rare. Here, we reported a 77-year-old woman with ANCA-associated vasculitis. Renal biopsy with Masson trichrome staining showed pauci-immune crescentic glomerulonephritis, and electron microscopy showed amyloid deposition in the mesangial area. Immunofluorescence revealed kappa light chain and lambda light chain negative. Bone marrow biopsy revealed no clonal plasma cell. Finally, she was diagnosed as ANCA-associated vasculitis with secondary renal amyloid A amyloidosis.
Female ; Humans ; Aged ; Glomerulonephritis/diagnosis* ; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/pathology* ; Antibodies, Antineutrophil Cytoplasmic ; Kidney/pathology* ; Amyloidosis/complications*

Objective: To analyze the clinical characteristics, treatment response, and prognosis of newly diagnosed symptomatic multiple myeloma (MM) patients with systemic light chain amyloidosis (AL) . Methods: The clinical data of 160 patients with newly diagnosed MM treated at the First Affiliated Hospital of Soochow University from January 1, 2017 to October 31, 2018, were retrospectively analyzed. According to the histopathological biopsy results of bone marrow, skin, and other tissues, the patients were divided into two groups according to whether amyloidosis was combined or not, namely, the MM+AL group and the MM group. The clinical characteristics and treatment responses of the two groups were compared. Results: Among the 160 patients with newly diagnosed MM, there were 42 cases in the MM+AL group and 118 cases in the MM group. In terms of clinical features, the involved light chain and non-involved light chain (dFLC) in the MM+AL group was significantly higher than that in the MM group (P=0.039) . After induction treatment, the MM+AL group had a higher overall response rate (85.7%vs 79.7%, P<0.05) and higher excellent partial response (76.2%vs 55.1%, P<0.05) . After a median follow-up of 26 (0.25-41) months, there was no significant difference in the progression free survival and overall survival (OS) between the two groups (P>0.05) . The OS of patients in autologous hematopoietic stem cell transplantation group was better than that in non transplantation group (P<0.05) .The prognosis of patients with cardiac involvement in the MM+AL group was significantly worse than that in the MM group and MM+AL group without cardiac involvement (P<0.001) , with a median OS of only 13 months. Conclusion: The differential diagnosis between the MM+AL and MM groups requires histopathology, particularly for patients with significantly increased dFLC. The overall remission rate of patients in MM+AL group after 4 courses of induction chemotherapy was higher than that in MM group. The prognosis of patients with cardiac involvement in MM+AL group was poor.
Amyloidosis/diagnosis* ; Humans ; Immunoglobulin Light Chains ; Immunoglobulin Light-chain Amyloidosis/therapy* ; Multiple Myeloma/therapy* ; Prognosis ; Retrospective Studies

Amyloidosis ; Biopsy ; Humans ; Liver Cirrhosis/diagnosis*

Abdominal Pain/etiology* ; Amyloidosis/diagnosis* ; Humans ; Immunoglobulin Light-chain Amyloidosis/complications* ; Immunoglobulin lambda-Chains

INTRODUCTION: Rheumatoid arthritis (RA) is one of systemic chronic progressive inflammatory disorders based on immunological disharmonies. Poorly controlled systemic inflammation in RA often leads to renal diseases such as secondary amyloidosis. CASE PRESENTATION: A 30-year-old man complained of swelling and tenderness of multiple joints gradually worsened the past 7 years. His laboratory examination showed anemia, positive rheumatoid factor (RF) and anti-citrullinated protein antibody (ACPA). C-reactive protein (CRP) was 48.7 mg/L (Normal value is <5 mg/L), increase in serum creatinine and protein was +3 in urine. His estimated glomerular filtration rate (e-GFR) was 58.3 mL/min/1.73 m2 Radiologic examinations of joints revealed features that support the diagnosis of rheumatoid arthritis. Renal biopsy was done revealed amyloid deposit. He was diagnosed with rheumatoid arthritis and secondary renal amyloidosis. CONCLUSION: Early proper diagnosis of RA is important and immunosuppressive drugs might slow disease progression by controlling the inflammatory process We discussed the importance of early diagnosis and the use of better treatment in managing RA to prevent renal amyloidosis.
Amyloidosis ; Arthritis, Rheumatoid ; Early Diagnosis

Lung cysts are commonly seen on computed tomography (CT), and cystic lung diseases show a wide disease spectrum. Thus, correct diagnosis of cystic lung diseases is a challenge for radiologists. As the first diagnostic step, cysts should be distinguished from cavities, bullae, pneumatocele, emphysema, honeycombing, and cystic bronchiectasis. Second, cysts can be categorized as single/localized versus multiple/diffuse. Solitary/localized cysts include incidental cysts and congenital cystic diseases. Multiple/diffuse cysts can be further categorized according to the presence or absence of associated radiologic findings. Multiple/diffuse cysts without associated findings include lymphangioleiomyomatosis and Birt-Hogg-Dubé syndrome. Multiple/diffuse cysts may be associated with ground-glass opacity or small nodules. Multiple/diffuse cysts with nodules include Langerhans cell histiocytosis, cystic metastasis, and amyloidosis. Multiple/diffuse cysts with ground-glass opacity include pneumocystis pneumonia, desquamative interstitial pneumonia, and lymphocytic interstitial pneumonia. This stepwise radiologic diagnostic approach can be helpful in reaching a correct diagnosis for various cystic lung diseases.
Amyloidosis ; Birt-Hogg-Dube Syndrome ; Bronchiectasis ; Diagnosis ; Emphysema ; Histiocytosis ; Histiocytosis, Langerhans-Cell ; Lung Diseases ; Lung Diseases, Interstitial ; Lung ; Lymphangioleiomyomatosis ; Neoplasm Metastasis ; Pneumonia, Pneumocystis

Sarcoidosis is a multisystem disease characterized by noncaseating granulomas. Cardiac involvement is known to have poor prognosis because it can manifest as a serious condition such as the conduction abnormality, heart failure, ventricular arrhythmia, or sudden cardiac death. Although early diagnosis and early treatment is critical to improve patient prognosis, the diagnosis of CS is challenging in most cases. Diagnosis usually relies on endomyocardial biopsy (EMB), but its diagnostic yield is low due to the incidence of patchy myocardial involvement. Guidelines for the diagnosis of CS recommend a combination of clinical, electrocardiographic, and imaging findings from various modalities, if EMB cannot confirm the diagnosis. Especially, the role of advanced imaging such as cardiac magnetic resonance (CMR) imaging and positron emission tomography (PET), has shown to be important not only for the diagnosis, but also for monitoring treatment response and prognostication. CMR can evaluate cardiac function and fibrotic scar with good specificity. Late gadolinium enhancement (LGE) in CMR shows a distinctive enhancement pattern for each disease, which may be useful for differential diagnosis of CS from other similar diseases. Effectively, T1 or T2 mapping techniques can be also used for early recognition of CS. In the meantime, PET can detect and quantify metabolic activity and can be used to monitor treatment response. Recently, the use of a hybrid CMR-PET has introduced to allow identify patients with active CS with excellent co-localization and better diagnostic accuracy than CMR or PET alone. However, CS may show various findings with a wide spectrum, therefore, radiologists should consider the possible differential diagnosis of CS including myocarditis, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy, amyloidosis, and arrhythmogenic right ventricular cardiomyopathy. Radiologists should recognize the differences in various diseases that show the characteristics of mimicking CS, and try to get an accurate diagnosis of CS.
Amyloidosis ; Arrhythmias, Cardiac ; Arrhythmogenic Right Ventricular Dysplasia ; Biopsy ; Cardiomyopathy, Dilated ; Cardiomyopathy, Hypertrophic ; Cicatrix ; Death, Sudden, Cardiac ; Diagnosis ; Diagnosis, Differential ; Early Diagnosis ; Electrocardiography ; Electrons ; Gadolinium ; Granuloma ; Heart Defects, Congenital ; Humans ; Incidence ; Magnetic Resonance Imaging ; Myocarditis ; Positron-Emission Tomography ; Prognosis ; Sarcoidosis ; Sensitivity and Specificity

OBJECTIVE: To explore the role of late gadolinium enhancement (LGE) and T1 mapping for detection of cardiac amyloidosis. METHODS: Nine cases of cardiac amyloidosis who had diagnosed by renal biopsy diagnosed type light-chain (AL) amyloidosis and acute heart failure suspected involvement of the heart in Tianjin First Central Hospital from May 2018 to March 2019 were enrolled, and at the same time 14 cases of non-obstructive hypertrophic cardiomyopathy patients, 12 cases of healthy physical examination at the same period were enrolled as the control. All patients underwent Philips 3.0-T including plain scan as cine, T2WI, native T1 mapping and enhanced scan as perfusion, LGE imaging, post T1 mapping. For LGE cardiac magnetic resonance imaging (CMRI), a bolus of 0.1 mL/kg of gadolinium-based contrast followed by a 20 mL saline flush was administered. After a 7-minutes delay, ECG-gated images were acquired in 3 long-axis and a stack of short-axis slices identical to those of cine images using a breath-hold gradient recalled echo phase-sensitive or magnitude only inversion recovery sequence. LGE and T1 mapping CMRI observation, including cardiac function index [left ventricle end-diastolic volume (LVEDV), left ventricle end-systolic volume (LVESV), left ventricular ejection fraction (LVEF), valvular regurgitation], cardiac morphological index [including left ventricular wall thickness, left ventricular weight (LVM)], myocardial histological characteristics and markers N-terminal pro-brain natriuretic peptide (NT-proBNP) and accompanying signs (including pericardial effusion, pleural effusion) were performed. RESULTS: The predominant LGE pattern in amyloidosis was diffuse left ventricular sub endocardial enhancement (3/9), diffuse in left ventricular wall enhancement (3/9), and transmural delayed enhancement in left ventricular (2/9) and non-typical delayed enhancement (1/9). Myocardial T1 was significantly elevated in cardiac AL amyloidosis patients compared to normal subjects and hypertrophic cardiomyopathy (ms: 1 497.3±22.0 vs. 1 273.3±30.1, 1 329.3±42.6, both P < 0.05). Myocardial T1 was increased in AL amyloid before LGE. A post-contrast myocardial T1 was significantly elevated in cardiac AL amyloidosis patients compared to normal subjects and hypertrophic cardiomyopathy (ms: 476.7±44.2 vs. 516.1±41.5, 569.9±12.3, both P > 0.05). Three of 9 amyloidosis patients with review images showing T1 value and cardiac function was no significantly different with the first check (ms: 1 484.8±6.5 vs. 1 497.3±22.0, P = 0.11). CONCLUSIONS One-stop CMRI can improve the diagnosis of cardiac amyloidosis, LGE can display the myocardial scarring and fibrosis, and T1 mapping is sensitive to myocardial edema and diffuse fibrosis. LGE and T1 mapping can improve the diagnostic accuracy, which is very meaningful for diagnosis and follow-up of patients.
Amyloidosis/diagnosis* ; Contrast Media ; Gadolinium ; Heart ; Humans ; Myocardium ; Predictive Value of Tests

BACKGROUND AND PURPOSE: This retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene (TTR), and analyzed their characteristics and geographical distribution in South Korea. METHODS: The included patients had a diagnosis of systemic amyloidosis, clinical symptoms, such as amyloid neuropathy or cardiomyopathy, and confirmation of a TTR gene mutation using genetic analysis recorded between April 1995 and November 2014. RESULTS: The mean age at disease onset was 49.6 years, and the mean disease duration from symptom onset to diagnosis was 3.67 years. Fifteen of the 18 patients were classified as mixed phenotype, 2 as the neurological phenotype, and only 1 patient as the cardiac phenotype. The most-common mutation pattern in South Korea was Asp38Ala, which was detected in eight patients. Thirteen patients reported their family hometowns, and five of the eight harboring the Asp38Ala mutation were from the Gyeongsang province in southeast Korea. The other eight patients exhibited a widespread geographical distribution. A particularly noteworthy finding was that the valine at position 30 (Val30Met) mutation, which was previously reported as the most-common TTR mutation worldwide and also the most common in the Japanese population, was not detected in the present South Korean patients. CONCLUSIONS: South Korean patients with hereditary TTR amyloidosis exhibited heterogeneous TTR genotypes and clinical phenotypes. The findings of this study suggest that the distribution of TTR amyloidosis in South Korea is due to de novo mutations and/or related to the other countries in East Asia.
Amyloid Neuropathies ; Amyloidosis* ; Asian Continental Ancestry Group ; Cardiomyopathies ; Cross-Sectional Studies ; Diagnosis ; Far East ; Genotype ; Humans ; Korea ; Phenotype ; Prealbumin* ; Retrospective Studies ; Valine

We report a rare case of systemic amyloidosis with gastrointestinal and lymph node involvement. A 64-year-old woman was admitted to our hospital with dyspepsia and weight loss. Initial esophagogastroduodenoscopy (EGD) revealed nonspecific findings, and abdominal computed tomography showed necrotizing lymphadenopathy at the porta hepatis. Laparoscopic lymph node biopsy was performed under suspicion of tuberculous lymphadenopathy, but a definite diagnosis was not established. Follow-up EGD performed 6 months later revealed multiple telangiectasia-like lesions at the gastric body, and endoscopic biopsy revealed amyloid deposition. Through additional blood and urine protein electrophoresis, the patient was finally diagnosed with systemic amyloidosis associated with multiple myeloma. She was treated with dexamethasone, thalidomide, and bortezomib; however, she died 3 months after diagnosis because of pneumonia and multiple organ failure.
Amyloidosis ; Biopsy ; Bortezomib ; Dexamethasone ; Diagnosis ; Dyspepsia ; Electrophoresis ; Endoscopy, Digestive System ; Female ; Follow-Up Studies ; Humans ; Lymph Nodes ; Lymphatic Diseases ; Middle Aged ; Multiple Myeloma ; Multiple Organ Failure ; Plaque, Amyloid ; Pneumonia ; Thalidomide ; Weight Loss