OBJECTIVE: To retrospectively analyze the clinical characteristics, prognosis and prognostic factors of patients with light-chain (AL) amyloidosis, so as to provide reference for the diagnosis and treatment of AL amyloidosis. METHODS: Clinical data of 52 patients diagnosed with AL amyloidosis at two hospitals from January 2017 to November 2022 were collected. The clinical characteristics, differences in clinical indexes between the deceased group and the survival group were analyzed. Kaplan-Meier curves were used for overall survival (OS) analysis, and Cox regression models were used to analyze the factors affecting the prognosis. RESULTS: The median age of the 52 patients at diagnosis was 61(41-81) years old, and 63.5% of the patients were male. Heart (69.2%) and kidney (67.3%) were the most involved organs, and 67.3% of the patients had two or more organs involved. Most patients (71.2%) received chemotherapy regimens containing bortezomib, including 5 patients (9.6%) who received treatment with daratumumab in combination with bortezomib. The proportion of male patients (81.0%), the proportion of patients with cardiac involvement (95.2%), and the proportion of patients with Mayo 2012 stage ≥III (95.2%), as well as the levels of hs-cTnI and NT-proBNP in the deceased group were significantly higher than those in the survival group ( P < 0.05). The median OS time of the enrolled patients was 33.4(2.6-60.2) months, with 1-year, 2-year, 3-year and 5-year OS rates of 83.7%, 79.3%, 58.9% and 32.7%, respectively. The Kaplan-Meier survival curve analysis revealed that patients with male gender (P =0.040), NT-proBNP ≥3 600 ng/L ( P < 0.001), Mayo 2012 stage ≥III ( P < 0.001), and cardiac involvement (P =0.008) had poor prognosis and shorter overall survival (OS) time. The multivariate regression analysis showed that Mayo 2012 stage ≥III was an independent risk factor for prognosis. CONCLUSION In recent years, the survival rate of patients with AL amyloidosis has improved significantly, but the 5-year survival rate is still relatively low. Cardiac biomarkers (NT-proBNP and hs-cTnI) and Mayo 2012 stage at diagnosis continue to provide important prognostic information. Bortezomib-based regimens were used as the primary treatment in most patients, and the addition of daratumumab is becoming increasingly common.
Humans ; Retrospective Studies ; Prognosis ; Middle Aged ; Male ; Female ; Aged ; Immunoglobulin Light-chain Amyloidosis/diagnosis* ; Adult ; Aged, 80 and over ; Kaplan-Meier Estimate

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

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

Aged ; Amyloidosis ; diagnosis ; surgery ; Dyspnea ; diagnosis ; surgery ; Hoarseness ; diagnosis ; surgery ; Humans ; Immunoglobulin Light-chain Amyloidosis ; Laryngeal Diseases ; diagnosis ; surgery ; Laser Therapy ; Male ; Tracheal Diseases ; diagnosis ; surgery

OBJECTIVETo evaluate the usage of Mayo staging system in Chinese patients with primary light chain (LC) amyloidosis.

METHODClinical data, treatment and outcome of 162 primary LC amyloidosis patients with Mayo Clinic staging in Peking Union Medical College Hospital from January 2009 to June 2015 were retrospectively analyzed.

RESULTSThe median age of 162 patients with Mayo Clinic 2004 stage was 57 (20-81) y, of them 62.3% were male. The number of patients with stage I to III were 44 (27.2%), 69 (42.6%), and 49 (30.2%), respectively. The median overall survival was not reached, 23 months and 12 months in patients with Mayo Clinic 2004 stage I, II, and III, respectively (P<0.001). Among 128 patients with Mayo Clinic 2012 stage, 48 patients (37.5%), 32 patients (25.0%), 32 patients (25.0%) and 16 patients (12.5%) were staged as Mayo Clinic 2012 stage 1 to 4, and the median OS was not reached, not reached, 13 months and 3 months, respectively (P<0.001).

CONCLUSIONMayo Clinic staging systems had important prognostic value in patients with primary LC amyloidosis.

Adult ; Aged ; Aged, 80 and over ; Amyloidosis ; diagnosis ; Female ; Humans ; Immunoglobulin Light-chain Amyloidosis ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Young Adult

OBJECTIVE: To summarize the specific CT characteristics and the endoscopic findings of primary tracheobronchial amyloidosis (PTBA) for improvement of the diagnostic accuracy.
 METHODS: The imaging features of 6 patients with PTBA were analyzed by multiplanar reconstructed CT and the fiberoptic bronchoscope, and the pathology were summarized retrospectively.
 RESULTS: All PTBA patients received bronchoscopic examination and the definite diagnosis were confirmed by positive staining with Congo red. PTBA presented diffuse thickening of major airway and lumen stenosis in various degrees with scattered hemorrhage of the mucous membrane under CT and bronchoscope, which was more obvious in low part of trachea, main bronchus and lobar bronchus. The mucosa of trachea and bilateral main bronchi were irregular and bumpy with jutting nodes in 5 patients, which was called "wavy path" pattern. Widely nodular or stripy calcifications of airway were found in 4 patients, which was considered as specific imaging features in PTBA and was involved bilateral main bronchi largely. There were obstructive atelectasis in 2 patients, and calcifications of hilus of lung with longitudinal diaphragm lymph nodes in 3 patients, but they were not specific. Ignoring the extensive circumferential thickening of large airway, "wavy path sign" and rail-like calcification was mainly responsible for misdiagnosis of PTBA as endobronchial tuberculosis or other diseases.
 CONCLUSION Attentions to the specific imaging features on multiplanar CT and the endoscopic findings are the fundamentals to avoid the misdiagnosis of PTBA.
Amyloidosis ; diagnosis ; pathology ; Bronchi ; pathology ; Bronchial Diseases ; diagnosis ; pathology ; Bronchoscopy ; Calcinosis ; Constriction, Pathologic ; Diagnostic Errors ; Humans ; Immunoglobulin Light-chain Amyloidosis ; Lung ; pathology ; Pulmonary Atelectasis ; Retrospective Studies ; Tomography, X-Ray Computed ; Trachea ; pathology

OBJECTIVE: To determine clinical features and diagnostic methods for primary tracheobronchial amyloidosis (TBA).
 METHODS: The clinical manifestations and diagnosis of a male patient who had been misdiagnosed for many years were described and analyzed.
 RESULTS: The patient was a 68-year-old male who complained of recurrent cough, expectoration, and progressive dyspnea for more than 30 years. He had been diagnosed with chronic bronchitis, bronchiectasis, and endobronchial tuberculosis in other hospitals and treated with antibiotics frequently and anti-tubercular agents for 3 months. Despite the treatments, the patient's symptoms were progressively worse. Finally, he came to Xiangya Hospital, Central South University, and was clearly diagnosed with primary TBA based on histopathological evidence after bronchoscopy.
 CONCLUSION TBA, a rare disease resulting from abnormal submucosal amyloid deposition in the trachea and bronchi, may display with many different symptoms. TBA is often misdiagnosed with other pulmonary diseases. The use of bronchoscopic techniques is essential for the diagnosis of TBA. Histopathology remains the gold standard for diagnosis of primary TBA. So, for patients with chronic cough of unknown etiology, bronchoscopy should be performed to obtain biopsy samples for the definitive diagnosis.
Aged ; Amyloidosis ; diagnosis ; Bronchi ; pathology ; Bronchial Diseases ; diagnosis ; Bronchiectasis ; Bronchitis, Chronic ; Bronchoscopy ; Delayed Diagnosis ; Humans ; Immunoglobulin Light-chain Amyloidosis ; Male ; Trachea ; pathology ; Tracheal Diseases ; diagnosis ; Tuberculosis

OBJECTIVETo summarize the features of clinical manifestations, laboratory tests and imaging findings of patients with cardiac amyloidosis (CA).

METHODSA total of 60 CA patients (including 41 male and 19 female patients) from 4 centers admitted between May, 2012 and November, 2013 were included in the study. The demographic data, medical history, clinical manifestations, laboratory test data, ECG, cardiac ultrasound, and cardiac magnetic resonance (CMR) imaging of the patients were analyzed.

RESULTSTwo-thirds of the 60 CA patients, were middle-aged or elderly men, and 47% of the patients had AL-CA. The clinical manifestations included exertional dyspnea (73%), pedal edema (47%), hypotension (47%), and hypertrophy of the tongue (22%); abnormal laboratory test results included albuminuria (53%) and liver (15%) and kidney (28%) dysfunction; blood routine, urine and serum immunoglobulin quantification and immunofixation electrophoresis could help the screening of AL-CA. Kidney (53%) and liver (15%) involvement was common, and 86% of AL-CA patients had kidney involvement. Typical ECG characteristics included poor R wave progression (35%), low voltage in limb leads (33%), and a pseudo infarct Q wave (30%); the latter two were more frequent in AL-CA. The characteristics of ultrasound findings included left ventricle thickening (100%), left atrial enlargement (87%) and enhanced echo of the myocardial granules(92%), and diastolic dysfunction was obvious in all the CA patients regardless of the systolic function. The DT and E/e' of the mitral annulus could be used as an index to evaluate diastolic dysfunction in early stage of the disease. Left ventricular (LV) global subendocardial late gadolinium enhancement (LGE, 81%) accompanied by right ventricular (RV) and atrial LGE was the typical characteristic of CMR, and the range of LGE in the RV and the two atria was wider in AL-CA than in non-AL-CA. NT-proBNP (97%) and cardiac troponin (53%) in CA patients were both elevated, which helped in diagnosing and assessing the severity of cardiac involvement, according to which 50% of the patients were found to be at a high risk, 43% at an intermediate risk, and 7% at a low risk.

CONCLUSIONThe combination of the features of clinical, laboratory tests and imaging findings of CA have important diagnostic and prognostic value for CA.

Adult ; Aged ; Amyloidosis ; diagnosis ; pathology ; physiopathology ; Cardiomyopathies ; diagnosis ; pathology ; physiopathology ; Electrocardiography ; Female ; Humans ; Immunoglobulin Light-chain Amyloidosis ; Magnetic Resonance Imaging ; Male ; Middle Aged

OBJECTIVETo analyze the endocardial, myocardial, and epicardial longitudinal systolic strain (LSsys) in the left ventricle (LV) segments and walls in patients with cardiac involvement due to primary amyloidosis (AL-CA) and hypertrophic cardiomyopathy (HCM).

METHODSTwenty patients with biopsy-proven AL-CA, 20 with asymmetric HCM, and 20 age-matched healthy volunteers were analyzed for their clinical characteristics and underwent conventional echocardiography for evaluating LV wall thickness, left atrial and ventricle size, systolic and diastolic function and 2-dimensional velocity vector imaging for evaluating the endocardial, myocardial and epicardial LSsys of the LV segments and walls. AL-CA and HCM patients also underwent cardiac magnetic resonance to evaluate the late gadolinium enhancement (LGE) features.

RESULTSCompared with the control group, AL-CA and HCM groups, with similar clinical symptoms and physical signs, both showed increased LV wall thickness, left atrial diameter, E/A ratio, septal E/e' ratio and the prevalence of granular sparkling. LV segments and walls endocardial LSsys were significantly lower in AL-CA patients than in HCM patients and the control subjects. The endocardial-epicardial LSsys difference in all the left ventricle walls were significantly smaller in AL-CA group than in the control group, but this difference appeared variable in HCM group. The LGE also presented with different features in AL-CA and HCM: AL-CA group showed subendocardial LGE in almost all the LV walls, but HCM group showed patchy LGE with a regional, multifocal distribution.

CONCLUSIONAL-CA is characterized by a significantly reduced endocardial LSsys in the LV segments and an uniform decrease of the endocardial-epicardial LSsys difference in all the LV walls, but the changes in HCM appear variable, and 2-dimensional velocity vector imaging is therefore a useful modality to differentiate AL-CA from HCM.

Amyloidosis ; diagnosis ; Cardiomyopathy, Hypertrophic ; diagnosis ; Diagnosis, Differential ; Diastole ; Echocardiography ; Heart Ventricles ; physiopathology ; Humans ; Immunoglobulin Light-chain Amyloidosis ; Systole

Primary systemic light chain amyloidosis or immunoglobulin light-chain amyloidosis (AL) is the most common type of systemic amyloidosis.AL is a proteotoxic clonal plasma cell disease, a hematological malignancy, characterised by overproduction of immunoglobulin light chains that form characteristic abnormally folded and aggregated, insoluble fibrillar deposits in various organs, including kidneys, heart, liver, and autonomic and peripheral nerves, etc, these processes lead to organ dysfunction and death. Systemic amyloidosis have various types with different causes, thereby its clinical diagnosis and treatment are more difficult. Recent developments on studies that have significantly aided the management of patients with AL include diagnostic techniques for definitive typing of amyloid deposits by using flow cytometry and immunophenotype analysis. These methods can detect abnormalities of bone marrow plasma cell clones, such as CD38(+), CD138(+), CD56(+), CD19(-) in AL patients. The monitoring abnormal plasma cells with immunoglobulin light chain restriction and abnormal plasma cell phenotypic characteristics contributes to the early diagnosis of AL and detection of minimal residual disease after treatment, which greatly improved AL treatment and prognosis. In this review the diagnosis and typing, clinical characteristics, flow cytometry, immunophenotyping of bone marrow cells, immunoglobulin light chain restriction and phenotypic characteristics of abnormal plasma cells of AL are briefly summarized.
Amyloidosis ; diagnosis ; Bone Marrow Cells ; cytology ; Humans ; Immunoglobulin Light-chain Amyloidosis ; Plasma Cells ; cytology