| BackgroundImmunoglobulin light-chain(AL)amyloidosis is the most common form of systemic amyloidosis.It is usually caused by plasma cell clone synthesizing light chains undergoing conformational changes that lead to their aggregation and deposition in tissues.If the procedure is not treated in time,it will lead to progressive and irreversible multiple organ damage and dysfunction,leading to death.Therefore,identifying diseases before irreversible organ damage and early diagnosis are critical to improving patient survival and quality of life.MethodsThe clinical manifestations,laboratory tests,treatment and prognosis of 2 patients with immunoglobulin light-chain amyloidosis admitted to our hospital were described in detail.Through the search of databases to search the literature related to the disease from 2014 to 2019,and retrospectively analyzed the clinical data of 55 patients with complete records.ResultsThe clinical data of 55 patients with immunoglobulin light-chain amyloidosis in the literature are as follows:There were 36 male patients and 19 female patients.The mean age at diagnosis was 62±11.52 years,and the median time from onset to diagnosis was 18.2±24.9 months.Organ system involved in the first symptom at the time of treatment:skin soft tissue:18 cases,digestive system:14 cases,urinary system:6 cases,respiratory system:3 cases,circulatory system:3 cases,nervous system:3 cases,in addition,there were other 8 cases showed fatigue,edema,and weight loss.There were 16 cases(29.1%)of pathological immunoglobulin Kappa light chain type.There were 19 patients(34.5%)with AL amyloidosis associated with monoclonal gamma globulin disease.After the diagnosis,the assessment is completed.The affected organs include the heart,kidney,skin soft tissue,digestive tract,liver,and nervous.Among them,there were 10 cases(18.2%)with one affected organ,27 cases(49.1%)with two,and 18 cases(32.7%)with more than three.According to the Mayo clinic amyloidosis staging(2012 edition),21 patients(38.2%)classified as stage ?,26 cases are stage ?(26.3%),5 cases are stage ?(version 9.1%),and 3 cases are stage IV(5.5%).Further,all patients were divided into two categories according to the initial clinical manifestations.The first type was skin AL amyloidosis group(18 cases),which was characterized by skin soft tissue symptoms.The second type was mainly characterized by Other symptoms(37 cases).Statistical analysis indicators include age,gender,median time from onset to diagnosis,immunoglobulin light-chain typing,cardiac involvement index(NT-proBNP,left cardiac ejection fraction,interventricular septum thickness),24-hour urine Statistical analysis of protein quantification,difference between involved and uninvolved free light chain(FLC-diff),number of affected organs,and Mayo clinic staging.The results showed that the number of organ involvement and the degree of ventricular septal thickness in patients with skin AL amyloidosis group was significantly less than that in non-skin group,the difference was statistically significant(P=0.049),and other indicators were not statistically different.Small-sample multivariate risk regression analysis showed that skin soft tissue involvement may be an independent protective factor for the disease.Case reports are as follows:Case 1 The patient was male,59 years old,with recurrent purpura for 2 years and oral blister ulcer for half a year.Two years ago,there was no obvious incentive for the lower abdomen to appear regressive bright red spots and ecchymoses,which gradually affected the trunk,head and face.There was tongue hypertrophy and hard-to-healing oral mucosa,blistering and ulceration of the tongue,mild pain,confusing speech,affecting swallowing and loss of appetite.In the past six months,the patient was consciously tired and weak,with chest tightness after exertion,and occasional left chest pain(which can be relieved by himself),and was admitted for further treatment.Admission examination:The whole body is fragile and meager.There are scattered ecchymoses on the face,neck,underarms,trunk,and groin and gray-white atrophy on the lower abdomen patches.There are oral mucosa,multiple vesicular granules in the tongue,with multiple oral erosions;Giant tongue,diffuse swelling of the tongue,visible scallops.Skin biopsy of the back rash showed that the skin epidermis was hyperkeratotic and coking was incomplete,and a large amount of homogeneous red-stained mass-like material deposition was observed in the dermis layer.Special staining showed PAS(?),Congo red staining:orange-red agglomerate-like substance with apple green birefringence under polarized light.Serum immunofixation electrophoresis revealed a monoclonal band of immunoglobulin Lambda light chain.The serum free immunoglobulin light chain assay showed a Lambda free light chain of 11.9 mg/dl(0.57-2.63mg/dl).Diagnosis:Immunoglobulin light-chain amyloidosis.Case 2 The patient was male,64 years old,and his body was repeatedly purpura for 5 years.The patient developed ecchymosis after a slight collision on the face,neck and back of his hands 5 years ago,which after 7 days after bruising subside on their own.Two years ago,the face and the lower extremities were swollen,and the range of rash was enlarged.In recent months,the patient's whole body has tender skin with large ecchymosis,and the speech is not dear,and the tongue activity is limited.He is admitted to hospital for further treatment.Admission examination:the face,neck,and trunk are scattered with ecchymosis,and the tongue is hypertrophied with seallops.Laboratory examination:urine protein(++++),occult blood(++),24-hour urine Kappa free light chain 2.94mg/dl(<5.1mg/dl)?Lambda free light chain 10.9mg/dl(<5.0mg/dl),renal puncture:amyloidosis with renal sclerosis,the bone marrow biopsy:reduced hematopoiesis,increased granule cells(21%).Biopsy at the lesion showed:uniform deposition of red stained material around the dermis,hair follicles and blood vessels,PAS(?),Congo red(+),erystal violet(?).Diagnosis:Immunoglobulin light-chain amyloidosis.Conclusions1.The symptoms and signs of Immunoglobulin light-chain amyloidosis are complex and diverse,depending on the different organs involved.2.The diagnosis of AL amyloidosis requires tissue biopsy to confirm amyloid deposition(positive Congo red staining),and this deposit is associated with immunoglobulin light chains produced by the proliferation of monoclonal plasma cells.After a definitive diagnosis,a systemic assessment should be actively improved to assess the prognosis.3.Patients with AL amyloidosis have the most common cardiac involvement during organ involvement,followed by skin soft tissue,kidney,digestive tract,nerve and liver.4.The skin and soft tissue lesions of patients with AL amyloidosis are mainly recurrent or long-term purpura,which is the most common in the face and neck.The periorbital ecchymosis can be used as a characteristic lesion.5.The skin manifestation of AL amyloidosis often does not cause the doctors and patients to pay attention to causing untimely medical treatment or misdiagnosis to delay the disease.Therefore,it is necessary to accurately identify the lesions in order to diagnose and treat before multiple organs are involved.6.AL amyloidosis patients with skin manifestations have less ventricular septal infiltration and mean organ involvement than those without skin manifestations,and skin soft tissue involvement may be an independent protective factor for the disease. |
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