Periorbital purpura can be the only initial symptom of primary light chain amyloidosis:A case report

BACKGROUND Primary light chain amyloidosis is a rare and complex disease with complex clinical features and is highly susceptible to misdiagnosis and underdiagnosis in the early stages.CASE SUMMARY We report a case of a 47-year-old female patient whose only initial symptom was periorbital purpura,which was not taken seriously enough.As the disease progressed,pleural effusion gradually appeared,and after systematic diagnosis and treatment,she was diagnosed with“primary light chain amyloidosis”.She achieved rapid hematological remission after treatment with a daratumumab+bortezomib+cyclophosphamide+dexamethasone regimen.CONCLUSION Periorbital purpura can be the only initial symptom of primary light chain amyloidosis;we should pay attention to the cases where the initial clinical symptoms are only periorbital purpura.

Primary Tracheobronchial Amyloidosis in China:Analysis of 64 Cases and A Review of Literature

Primary tracheobronchial amyloidosis (TBA) is a rare pulmonary disease.A systematic review was performed on 64 cases of primary TBA in China and progress in the diagnosis and treatment of this disease is discussed.The Chinese biological and medical databases from 1970 to 2010 were searched and 75 cases of complete clinical and pathological data were identified.The clinical characteristics of the disease were summarized and longitudinal comparisons were made of diagnostic and treatment methods over time.The results showed that the morbidity associated with primary TBA has increased over recent years.The clinical manifestations were non-specific.Progressive dyspnea, cough and sputum were the most common symptoms.The percentage of patients undergoing computed tomography (CT) scan has increased over the years.The bronchoscopy and transbrochial lung biopsy (TBLB) were usually sufficient to establish the diagnosis.Treatment was reported for a total of 44 cases.Bronchoscopic Nd:YAG laser irradiation, argon plasma coagulation (APC) and drugs administration such as steroids and colchicines were reported to be effective in some patients.It is concluded that the demographic characteristics and clinical manifestations of primary TBA patients in China are largely consistent with findings reported in other countries.Dramatically more cases were reported in recent years, mainly due to the extensive application of bronchoscopy since 1990s.Chest CT scan provides important clues for the diagnosis of the disease.The definite diagnosis was confirmed by bronchoscopic findings and Congo red staining of biopsy specimen.Bronchoscopic Nd:YAG laser irradiation, argon plasma coagulation (APC) and drugs administration, such as steroids and colchicines were reported to be effective in some patients.

Topical halometasone cream combined with fire needle pretreatment for treatment of primary cutaneous amyloidosis:Two case reports

BACKGROUND Primary cutaneous amyloidosis(PCA)is a chronic metabolic skin disease that has a detrimental impact on physical and mental health.It appears as mossy papules and severe itching,which is long-term and recurrent.Traditional treatments are unsatisfactory,especially for refractory cases.Fire needle therapy,which is widely used in China,has shown good clinical efficacy,as well as advantages concerning safety and cost.Clinical reports about fire needle treatment of this disease are few at present.CASE SUMMARY We report two older men who had developed maculopapules with itchiness on the trunk and arms for more than 10-15 years.Due to the dermatopathological findings,PCA was our primary consideration.They received topical halometasone cream and pretreatment with fire needle for 8-16 wk.Both patients showed significant improvement of lesions.Neither patient had recurrence with a minimum of 2 years of follow-up.CONCLUSION Topical halometasone cream and pretreatment with fire needle could be a fast,safe,and economic treatment for PCA.

Primary localized gastric amyloidosis:A scoping review of the literature from clinical presentations to prognosis

Localized gastric amyloidosis(LGA)is a rare disease characterized by abnormal extracellular deposition of amyloid protein restricted to the stomach and it is confirmed by positive results of Congo red staining.Over decades,only a few cases have been reported and studies or research focusing on it are few.Although LGA has a low incidence,patients may suffer a lot from it and require proper diagnosis and management.However,the pathology of LGA remains unknown and no overall review of LGA from its presentations to its prognosis has been published.Patients with LGA are often asymptomatic or manifest atypical symptoms,making it difficult to differentiate from other gastrointestinal diseases.Here,we report the case of a 70-year-old woman with LGA and provide an overview of case reports of LGA available to us.Based on that,we conclude current concepts of clinical manifestations,diagnosis,treatment,and prognosis of LGA,aiming at providing a detailed diagnostic procedure for clinicians and promoting the guidelines of LGA.In addition,a few advanced technologies applied in amyloidosis are also discussed in this review,aiming at providing clinicians with a reference of diagnostic process.With this review,we hope to raise awareness of LGA among the public and clinicians.

Immunophenotypic analysis of abnormal plasma cell clones in bone marrow of primary systemic light chain amyloidosis patients

Background Primary systemic light chain amyloidosis （AL） is a rare plasma cell disease,our purpose was to analyze the immunophenotypic characteristics of the plasma cells in bone marrow in AL patients,and explore whether the detection of abnormal plasma cell clones in bone marrow by flow cytometry （FCM） could be used as an important indicator of AL diagnosis.Methods Fresh bone marrow samples were collected from 51 AL,21 multiple myeloma （MM）,and 5 Waldenstr（o）m＇s macroglobulinemia （WM） patients.The immunophenotype of bone marrow cells were analyzed and compared by FCM using a panel of antibodies including CD45,CD38,CD138,CD117,CD56,and CD19.Results In AL,light chain restriction could be identified in 31 cases （60.9%）,in which the λ light chain restriction was found in 24 cases （77.4%）.In MM,κ light chain restriction was found in 13 cases （61.9%）,and λ light chain restriction in eight cases.CD45 on abnormal plasma cells was negative to weakly positive in both AL and MM,but was positive to strongly positive in WM.In the bone marrow plasma cells of the 51 AL,78.4% were CD56＋,68.6% were CD117＋,and 88.2% were CD19-.While in the 21 MM cases,66.7% were CD56＋,38.1% were CD117＋,and 90.4% were CD19-.The plasmacytoid lymphocytes in the five WM patients were CD19＋ and CD56-,CD117-.Conclusion Detection of abnormal plasma cell clones in bone marrow by FCM is valuable for the diagnosis of AL.

Primary Systemic Amyloidosis Presenting as Skin Vegetations:A Case Report

Introduction:Primary systemic amyloidosis is characterized by clonal plasma cell disorder,and its signs and symptoms are various and complex,damage to the skin and mucous membrane is often more likely to attract attention.Here we reported a case of a 61-year-old male patient who presented with topical mucocutaneous lesion,as well unusual skin vegetations.Case presentation:A 61-year-old man was hospitalized due to repeated burning sensation on his back,multiple ecchymosis,and skin vegetations.Through a series of examinations(mainly including skin histopathology,bone marrow cytology,bone marrow flow cytometry,immunofixation electrophoresis),Primary systemic amyloidosis was diagnosed,but multiple myeloma could not be diagnosed.Subsequently,he received chemotherapy.In the half-year follow-up,there was no significant change in his symptoms and signs.Discussion:In this case,in addition to the typical skin damage of primary amyloidosis,the multiple skin vegetations in the buttocks,abdomen,and arms are particularly noteworthy.According to the histopathology and Immunohistochemistry of the skin vegetation,we infer that the formation mechanism of these skin vegetation is lymphatic obstruction caused by amyloid,which leads to lymphatic dilatation,lymph leakage,and dermal edema.Conclusion:Primary systemic amyloidosis is a rare disease,which is often difficult to diagnose.We should be alert to those atypical skin features so as not to delay diagnosis.

A case of systemic amyloidosis beginning with purpura

Primary systemic amyloidosis is a relatively rare disease, caused when abnormal extracellular deposition of fibrillary protein builds up in a variety of target organs, such as heart, kidneys, lungs liver, and so forth. The symptoms of the disease are usually vague, while many kinds of auxiliary or laboratory examinations especially pathologic biopsy can provide a clue for the diagnosis. Here we described a case who had purpura-like lesions in the initial stage, followed by progressive malfunctions in the kidneys, the heart, the lungs, as wel~ as the liver. The final diagnosis was primary systemic amyloidosis determined by skin pathologic biopsy. And the disease led to a fatal outcome within three months after the diagnosis.