Hepatomegaly and jaundice as the presenting symptoms of systemic light-chain amyloidosis: A case report

BACKGROUND Light chain(AL)amyloidosis is a plasma cell dyscrasia characterized by the pathologic production and extracellular tissue deposition of fibrillar proteins derived from immunoglobulin AL fragments secreted by a clone of plasma cells,which leads to progressive dysfunction of the affected organs.The two most commonly affected organs are the heart and kidneys,and liver is rarely the dominant affected organ with only 3.9%of cases,making them prone to misdia-gnosis and missed diagnosis.CASE SUMMARY A 65-year-old woman was admitted with a 3-mo history of progressive jaundice and marked hepatomegaly.Initially,based on enhanced computed tomography scan and angiography,Budd-Chiari syndrome was considered and balloon dilatation of significant hepatic vein stenoses was performed.However,addi-tional diagnostic procedures,including liver biopsy and bone marrow-exami-nation,revealed immunoglobulin kapa AL amyloidosis with extensive liver involvement and hepatic vascular compression.The disease course was progre-ssive and fatal,and the patient eventually died 5 mo after initial presentation of symptoms.CONCLUSION AL amyloidosis with isolated liver involvement is very rare,and can be easily misdiagnosed as a vascular disease.

Membranous nephropathy with systemic light-chain amyloidosis of remission after rituximab therapy:A case report

BACKGROUND About 70%-80%of patients with primary membranous nephropathy(MN)have phospholipase A2 receptor(PLA2R)in renal tissue.Systemic light-chain(AL)amyloidosis is the most common type of amyloidosis.MN complicated with amyloidosis is rare.CASE SUMMARY A 48-year-old Chinese male presented with nephrotic syndrome,positive serum PLA2R antibody,and positive serum and urine IgG-lambda type M-protein,with a normal ratio of serum-free light-chain level.The patient was diagnosed with MN accompanied by AL amyloidosis.He was treated with rituximab with glucocorticoids and CyBorD regimen of chemotherapy.After 21 mo of follow-up,the patient achieved complete remission regarding nephrotic syndrome without adverse effects of chemotherapy.CONCLUSION We report a case of PLA2R-related MN complicated with primary AL amyloidosis only with renal involvement and successfully treated with rituximab,glucocorticoids and chemotherapy.

Submucosal hematoma is a highly suggestive finding for amyloid light-chain amyloidosis:Two case reports

The clinical and endoscopic features of amyloid lightchain(AL) amyloidosis are diverse and mimic various other diseases.Endoscopically,few reports on submucosal hematomas of the gastrointestinal(GI) tract are available in the literature.Here,we report two cases of AL amyloidosis presenting as submucosal hematomas in the absence of clinical disease elsewhere in the body.The 2 cases were referred to our hospital because of hematochezia.The endoscopic findings in both cases were similar in submucosal hematoma formation.However,the clinical courses differed.In the first case,there was no evidence of systemic amyloidosis and the disease was conservatively managed.In the second case,the disease progressed to systemic amyloidosis and the patient died within a short time.We conclude that the endoscopic detection of a submucosal hematoma in the setting of GI bleeding should raise suspicion of AL amyloidosis.Referral to a hematologist should be done immediately for treatment while the involvement is limited to the GI tract.

Extensive Bi-Atrial Remodeling on Hypertensive Patient with Permanent Atrial Fibrillation Delayed Diagnosis of Fatal Cardiac Lambda Amyloidosis

Background: Amyloidosis is a disease characterized by the deposition of fibrillar proteins in tissues. The nature of the protein defines the type of amyloidosis. Cardiac involvement is most often secondary to deposits of transthyretin and immunoglobulin light chains. Treatment depends on the type of amyloidosis. Cardiac light chain amyloidosis is a medical emergency. Aim: To highlight the importance of an early diagnosis of cardiac light chain amyloidosis. Case Presentation: We report the case of an 88-year-old hypertensive female patient with sustained atrial fibrillation and recurrent heart failure, in whom echocardiography showed concentric left ventricle hypertrophy with mildly reduced left ventricle ejection fraction (LVEF) to 45%. Bone scintigraphy was normal. Serum analysis showed increased lambda free light chains. Accessory salivary gland biopsy revealed weak Kappa light chain staining and clear overexpression of lambda light chain deposits. The diagnosis of stage 3B cardiac amyloidosis secondary to lambda light chain myeloma was made. After a multidisciplinary meeting, it was decided to start treatment with DARATUMUMAB + LENALIDOMIDE. Patient’s general condition deteriorated with the occurrence of febrile pancytopenia. Chemotherapy was stopped and management was limited to comfort care until the patient’s death. Conclusion: Cardiac light-chain amyloidosis must be diagnosed early as it can be rapidly fatal.

Systemic Amyloidosis Secondary to Psoriasis: A Rare, Autoimmune and Genetically-Determined Disorder That Is Amenable to Treatment with Cyclosporin A—Cyclosporin A for Psoriasis-Induced Amyloidosis

Background: Systemic secondary amyloidosis (SSA) is associated with chronic inflammatory disorders and/or chronic infections. Patients and Methods: Over the past 10 years;a total of 21 patients, with long-term (17 months) and extensive psoriasis (P) with psoriasis area severity index (PASI) >29, were evaluated. Results: Two patients had nephrotic syndrome (proteinuria 3.9 and 3.6 g/day) and decrease creatinine clearance (46 and 62 ml/minute). Their renal biopsy revealed Congo-red (+) nodular glomerulosclerosis that lacked immune-deposits and resisted wash with K-permanganate wash indicating SSA. Three months subsequent to Cyclosporin A (CyA) therapy with 100 mg twice daily;psoriasis improved in all patients with decrease in (PASI) from 29.5 to 3.5 1. In the 2 patients with SSA;proteinuria decreased to 2.1 and 1.8 g/day and creatinine clearance improved to 51 and 69 ml/minute. Such improvement persisted up to 2 years of follow up and up to 78 months in patients with SSA. Conclusion: psoriasis-induced SSA is an autoimmune disease, with genetic predisposition that is amenable to CyA therapy.

Recent advances in the diagnostic methods and therapeutic strategies of transthyretin cardiac amyloidosis

Cardiac amyloidosis is a progressive disease characterized by the buildup of amyloid fibrils in the extracellular space of the heart.It is divided in 2 main types,immunoglobulin light chain amyloidosis and transthyretin amyloidosis(ATTR),and ATTR amyloidosis is further divided in 2 subtypes,non-hereditary wild type ATTR and hereditary mutant variant amyloidosis.Incidence and prevalence of ATTR cardiac amyloidosis is increasing over the last years due to the improvements in diagnostic methods.Survival rates are improving due to the development of novel therapeutic strategies.Tafamidis is the only disease-modifying approved therapy in ATTR amyloidosis so far.However,the most recent advances in medical therapies have added more options with the potential to become part of the therapeutic armamentarium of the disease.Agents including acoramidis,eplontersen,vutrisiran,patisiran and anti-monoclonal antibody NI006 are being investigated on cardiac function in large,multicenter controlled trials which are expected to be completed within the next 2-3 years,providing promising results in patients with ATTR cardiac amyloidosis.However,further and ongoing research is required in order to improve diagnostic methods that could provide an early diagnosis,as well as survival and quality of life of these patients.

Hepatic amyloidosis in a patient with chronic liver failure:A case report

BACKGROUND Amyloidosis is a rare disorder that can be classified into various types,and the most common type is the systemic light chain type.The prognosis of this disease is extremely poor.In general,amyloidosis mainly affects the kidneys and heart and manifests as abnormal proliferation of clonal plasma cells.Cases in which the liver is the primary organ affected by amyloidosis,as in this report,are less common in clinical practice.CASE SUMMARY A 62-year-old man was admitted with persistent liver dysfunction of unknown cause and poor treatment outcomes.His condition persisted,and he developed chronic liver failure,with severe cholestasis in the later stage that was gradually accompanied by renal injury.Ultimately,he was diagnosed with hepatic amyloidosis through liver biopsy and pathological examination.CONCLUSION Hepatic amyloidosis rarely occurs in the clinic,and liver biopsy and pathological examination can assist in the accurate and effective diagnosis of this condition.

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.

Nodular Pulmonary Amyloidosis with Interstitial Lung Disease—Case Report and Literature Review

Amyloidosis is a rare spectrum of disease which involves deposition of misfolded extracellular proteins (amyloids) in various body organs leading to progressive organ dysfunction. Clinical presentation can be variable depending on the organ involved and type of protein. Amyloidosis can be classified based on quantity, type, and location of these proteins. Amyloid light-chain amyloidosis develops in the bone marrow, producing abnormal forms of light-chain proteins, which cannot be broken down. These proteins transform into amyloid fibrils and form amyloid deposits in different organs. Pulmonary amyloidosis is uncommonly diagnosed since it is rarely symptomatic. Diagnosis of pulmonary amyloidosis is usually made in the setting of systemic amyloidosis;however, it may present as localised pulmonary disease. Localized pulmonary Amyloidosis can present as nodular, cystic, or tracheobronchial amyloidosis. Depending on the degree of the interstitial involvement, it may affect alveolar gas exchange and cause respiratory symptoms. This is a case of a 47-year-old female with background history of interstitial lung disease presenting with progressive shortness of breath. Computed tomography scan revealed bilateral pulmonary nodules. The patient was referred to our thoracic surgery team with the suspicion of bronchogenic malignancy with metastasis. Diagnostic video assisted wedge resection was performed for this patient, and histology confirmed pulmonary amyloidosis of nodular type. Amyloid deposition simulates both inflammatory and neoplastic conditions. Definitive diagnosis requires biopsy confirmation therefore early detection and commencing the patient on appropriate treatment pathway may help in symptomatic relief and better outcome.

Successful treatment of lichen amyloidosis coexisting with atopic dermatitis by dupilumab:Four case reports

BACKGROUND Lichen amyloidosis(LA)is a chronic,severely pruritic skin disease,which is the most common form of primary cutaneous amyloidosis.The treatment of LA has been considered to be difficult.LA may be associated with atopic dermatitis(AD),and in this setting,the treatment options may be more limited.Herein,we report four cases of LA associated with AD successfully treated by dupilumab.CASE SUMMARY In this article,we describe four cases of patients who presented with recurrent skin rash accompanied by severe generalized intractable pruritus,diagnosed with refractory LA coexisting with chronic AD.Previous treatments had not produced any apparent improvement.Thus,we administered dupilumab injection subcutaneously at a dose of 600 mg for the first time and 300 mg every 2 wk thereafter.Their lesions all markedly improved.CONCLUSION Dupilumab may be a new useful treatment for LA coexisting with AD.

Dupilumab for treatment of severe atopic dermatitis accompanied by lichenoid amyloidosis in adults:Two case reports

BACKGROUND Lichenoid amyloidosis(LA)is a subtype of primary cutaneous amyloidosis characterized by persistent multiple groups of hyperkeratotic papules,usually on the lower leg,back,forearm,or thigh.LA may be associated with several skin diseases,including atopic dermatitis(AD).The treatment of LA is considered to be difficult.However,as there is some overlap in the etiopathogenesis of LA and AD,AD treatment may also be effective for LA.CASE SUMMARY Case 1:A 70-year-old man was diagnosed with severe AD with LA based on large dark erythema and papules on the trunk and buttocks and dense hemispherical millet-shaped papules with pruritus on the extensor side of the lower limbs.He had a long history of the disease(8 years),with repeated and polymorphic skin lesions.Given the poor efficacy of traditional treatments,this patient was recommended to receive dupilumab treatment.At the initial stage,300 mg was injected subcutaneously every 2 wk.After 28 wk,the drug interval was extended to 1 mo due to the pandemic.Follow-up observations revealed that the patient reached an Eczema Area Severity Index of 90(skin lesions improved by 90%compared with the baseline)by the end of the study.Moreover,Investigator's Global Assessment score was 1,and scoring atopic dermatitis index and numeric rating scale improved by 97.7%and 87.5%compared with the baseline,respectively,with LA skin lesions having largely subsided.Case 2:A 30-year-old woman was diagnosed with severe AD with LA,due to dense and substantial papules on the dorsal hands similar to changes in cutaneous amyloidosis,and erythema and papules scattered on limbs and trunk with pruritus,present for 25 years.After 16 wk of dupilumab treatment,she stopped,and skin lesions completely subsided,without recurrence since the last follow-up.CONCLUSION Dupilumab shows rational efficacy and safety in the treatment of severe AD with LA,in addition to benefits in the quality of life of the patients.

Cardiac amyloidosis presenting as pulmonary arterial hypertension:A case report

BACKGROUND Pulmonary hypertension is a rare cardiopulmonary disease,with an insidious onset that usually worsens rapidly.Amyloid light chain(AL)amyloidosis is a rare systemic disease caused by extracellular deposition of pathologic,insoluble,and proteinaceous fibrils in organs and tissues;however,it is difficult to diagnose given its varied and nonspecific symptoms.To date,rare cases of amyloidosis with pulmonary hypertension have been reported.Of note,the optimal treatments for cardiac amyloidosis complicated with pulmonary hypertension remain unclear.CASE SUMMARY We report a case of a 51-year-old woman who presented with progressively worsening dyspnea.Transthoracic echocardiography indicated severe pulmonary hypertension.Twenty-seven months after first admission,the patient returned with symptoms of progressive heart failure.A myocardial tissue sample stained with Congo red was positive,and the patient was ultimately diagnosed with AL amyloidosis with cardiac involvement.CONCLUSION Although pulmonary hypertension may be idiopathic,it is frequently associated with other conditions.In rare cases,pulmonary hypertension can be a complication of AL amyloidosis,which should be seriously considered in any adult presenting with nonspecific signs or symptoms of cardiac distress.

Screening for Transthyretin Cardiac Amyloidosis in Patients with Bilateral Carpal Tunnel Syndrome: Identifying Missed Opportunities for Early Detection and Treatment

Purpose: Transthyretin cardiac amyloidosis (ATTR-CA) has been linked to many extra-cardiac manifestations including bilateral carpal tunnel syndrome (CTS). The aim of this study is to analyze patients with bilateral CTS to identify patients with high-risk features or “red flags” for ATTR-CA, identify if systematic screening was done for ATTR-CA and define opportunities for improved detection. Methods: Out of >5000 patients with bilateral CTS evaluated in a single tertiary care center in Southeast Michigan (2010-2016), we retrospectively studied a focused population of patients: men > 50 years and women > 60 years old with bilateral CTS and atrial fibrillation (n = 295). Baseline demographic, comorbidities, and electrocardiographic and echocardiographic findings were analyzed. A high-risk group suspicious for ATTR-CA was identified as patients with bilateral CTS, atrial fibrillation, and concomitant “red flags” including heart failure and left ventricular hypertrophy. Results: Out of 295 patients, 51.2% were female, 75.6% were White, and 22.4% were African American. Upon comparing the high-risk group (n = 67) with the remaining study population (n = 228), both diagnosis of ATTR-CA and mortality were higher among the high-risk group (7.5% vs 0.4% and 43.3% vs 24.6%, respectively, P = 0.003). Conclusions: A substantial number of bilateral CTS patients had additional “red flags” warranting formal evaluation for ATTR-CA;however, systematic evaluation for cardiac amyloidosis was not performed in many patients. This emphasizes that Multidisciplinary collaboration is needed to create a systematic workflow and to raise awareness amongst cardiologists and other physicians for suspecting ATTR-CA in bilateral CTS patients who have additional “red flags”.

Rare manifestation of familial vitreous amyloidosis caused by Gly103Arg transthyretin

AIM:To identify and analyze the genotype of the patients with special ocular manifestations of familial vitreous amyloidosis(FVA)in a Chinese Han family.METHODS:Pars plana vitrectomy(PPV)surgery was performed on a 52-year-old Chinese woman presented with vitreous amyloidosis and progressive visual impairment,without evidence of cardiac,renal,gastrointestinal,central nervous system or peripheral nervous system dysfunction.During the surgery,the patient presented with a gray-white dense and thick cotton woollike change in the vitreous body,accompanied by complete retinal detachment.Additionally,hard,free and movable yellow-white deposits were observed in the posterior pole and surrounding retina,the vitreous and subretinal deposits were examined by Congo red staining and immunohistochemical pathological examination,and whole exome sequencing was performed on blood samples from the patient and her cousin.RESULTS:During the operation,it was discovered that there was a complete detachment of the retina and a significant amount of hard,free-floating yellow-white deposits were observed beneath the posterior pole and surrounding retina.This is an exceedingly rare ocular manifestation.Pathological examination of the vitreous and subretinal deposit specimens revealed positive Congo red staining,as well as elevated vascular endothelial growth factor(VEGF)expression in vascular endothelial cells within the sediment specimens upon immunohistochemical examination.The patient and her cousin both exhibited a heterozygous mutation in Glyl03Arg within the transthyretin(TTR)gene,resulting in a substitution of glycine(Gly)at position 103 with arginine(Arg).CONCLUSION:FVA may present with various ocular manifestations,but panretinal detachment is a rare occurrence.In cases where retinal detachment persists for an extended period of time,amyloid deposits may form under the retina through retinal tears,leading to subretinal deposits that can impede retinal reattachment and negatively impact visual prognosis.Elevated levels of VEGF in the eyes of FVA patients may indicate an overexpression state,necessitating careful postoperative follow-up.The heterozygous mutation Gly103Arg may represent a unique pathogenic site in Chinese individuals.

ABCB4 gene mutation-associated cirrhosis with systemic amyloidosis:A case report

BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive disorders.Primary light amyloidosis is a rare and incurable disease.Here,we report a rare case of liver cirrhosis caused by ABCB4 gene mutation combined with primary light amyloidosis.CASE SUMMARY We report a case of a 25-year-old female who was hospitalized due to recurrent abdominal pain caused by calculous cholecystitis and underwent cholecystectomy.Pathological examination of the liver tissue suggested liver cirrhosis with bile duct injury.Exon analyses of the whole genome from the patient’s peripheral blood revealed the presence of a heterozygous mutation in the ABCB4 gene.Bone marrow biopsy tissues,renal puncture examination,and liver mass spectrometry confirmed the diagnosis of a rare progressive familial intrahepatic cholestasis type 3 with systemic light chain type κ amyloidosis,which resulted in cirrhosis.Ursodeoxycholic acid and the cluster of differentiation 38 monoclonal antibody daretozumab were administered for treatment.Following treatment,the patient demonstrated significant improvement.Urinary protein became negative,peripheral blood-free light chain and urine-free light chain levels returned to normal,and the electrocardiogram showed no abnormalities.Additionally,the patient’s lower limb numbness resolved,and her condition remained stable.CONCLUSION This report presents the diagnosis and treatment of liver cirrhosis,a rare disease that is easily misdiagnosed or missed.

Prevalence and Clinical Implication of t(11;14)in Light-Chain Amyloidosis with or without Coexistent Multiple Myeloma in the Era of Proteasome Inhibitors

Background Light-chain amyloidosis(AL)and multiple myeloma(MM)may coexist in some patients and,although they share some cytogenetic abnormalities,they usually present with different clinical phenotypes.Translocation(11;14)is the most common cytogenetic abnormality in AL,but the prevalence and clinical implication of t(11;14)in patients with AL,with or without coexistent MM,remains unclear.Methods A total of 119 consecutive newly diagnosed AL patients with available fluorescence in situ hybridization(FISH)data were retrospectively included and classified as primary AL alone(pAL-alone)or AL with coexistent MM(AL-MM).Clinical characteristics,FISH profiles,and hematologic and survival outcomes were analyzed.Results There were 53 patients in the pAL-alone group and 66 in the AL-MM group.The prevalence of t(11;14)was significantly higher in the pAL-alone group than the AL-MM group(49.1%vs.26.2%,P=0.012).A significantly higher proportion of the pAL-alone group achieved hematologic response compared with the AL-MM group(60.4%vs.39.4%,P=0.023).Patients with AL-MM experienced significantly shorter hematologic event-free survival(hemEFS)than those with pAL-alone(median,4.8 months vs.44.3 months,P<0.001),as well as significantly shorter overall survival(OS;median,15.2 months vs.not reached,P<0.001).When stratified by the presence or absence of coexistent MM and t(11;14),AL-MM patients with t(11;14)had the worst hemEFS(median,3.8 months,P<0.001)and OS(median,5.4 months,P=0.001).Conclusions Patients with pAL-alone had a higher prevalence of t(11;14)than those with AL-MM.The AL-MM group had poorer outcomes,despite the availability of proteasome inhibitor treatment,with AL-MM patients with t(11;14)showing the worst outcomes.Better diagnostic and treatment approaches are warranted for this population.

Diagnostic and prognostic value of cardiac imaging in amyloidosis

Amyloidosis is an infiltrative disease caused by extracellular protein deposition that has accumulated a lot of scientific production in recent years.Different types of amyloidosis can affect the heart.Transthyretin amyloidosis and light chain amyloidosis are the two most common types of cardiac amyloidosis.These entities have a poor prognosis,so accurate diagnostic techniques are imperative for determining an early therapeutic approach.Recent advances in cardiac imaging and diagnostic strategies show that these tools are safe and can avoid the use of invasive diagnostic techniques to histological confirmation,such as endomyocardial biopsy.We performed a review on the diagnostic and prognostic implications of different cardiac imaging techniques in cardiac amyloidosis.We mainly focus on reviewing echocardiography,cardiac magnetic resonance,computed tomography and nuclear imaging techniques and the different safety measurements that can be done with each of them.

Echocardiographic features of an atypical presentation of rapidly progressive cardiac amyloidosis

We present the case of a 66 year old male who presented with dyspnea and reduced exercise tolerance. Echocardiography demonstrated impaired left ventricular (LV) function and restrictive diastolic function with pronounced concentric left ventricular hypertrophy (LVH) without a history of hypertension and no aortic valve stenosis. Differential diagnostics of concentric LVH are discussed in detail. In the current case, cardiac amyloidosis (AL) amyloidosis was diagnosed and confirmed by serum amyloid P (SAP) scintigraphy and abdominal fat aspiration biopsy. This case shows the rapid decline in clinical condition with progression of cardiac involvement of AL. As discussed in detail, cardiac involvement in AL-amyloidosis generally denotes a poor prognosis, regardless of the method of treatment.

Endoscopic and histopathological features of gastrointestinal amyloidosis

Amyloidosis is a rare disorder, characterized by the extracellular deposition of an abnormal fibrillar protein, which disrupts tissue structure and function. Amyloidosis can be acquired or hereditary, and systemic or localized to a single organ, such as the gastrointestinal (GI) tract. Clinical manifestations may vary from asymptomatic to fatal forms. Primary amyloidosis (monoclonal immunoglobulin light chains, AL) is the most common form of amyloidosis. AL amyloidosis has been associated with plasma cell dyscrasias, such as, mul- tiple myeloma. Secondary amyloidosis is caused by the deposition of fragments of the circulating acute-phase reactant, serum amyloid A protein (SAA). Common causes of AA amyloidosis are chronic inflammatory dis-orders. Although GI symptoms are usually nonspecific, histopathological patterns of amyloid deposition are associated with clinical and endoscopic features. Amyloid deposition in the muscularis mucosae, submucosa, and muscularis propria has been dominant in AL amyloidosis, leading to polypoid protrusions and thickening of the valvulae conniventes, whereas granular amyloid deposition mainly in the propria mucosae has been related to AA amyloidosis, resulting in the fine granular appearance, mucosal friability, and erosions. As a result, AL amyloidosis usually presents with constipation, mechanical obstruction, or chronic intestinal pseudoobstruction while AA amyloidosis presents with diarrhea and malabsorption Amyloidotic GI symptoms are mostly refractory and have a negative impact on quality of life and survival. Diagnosing GI amyloidosis requires high suspicion of evaluating endoscopists. Because of the absence of specific treatments for reducing the abundance of the amyloidogenic precursor protein, we should be aware of certain associations between patterns of amyloid deposition and clinical and endoscopic features.

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.