Clinical characteristics and diagnosis of a rare case of systemic AL amyloidosis: a descriptive study.

Pengguo Chen,Zhibin Gong,Hui Liu,Zhaohan Wang,Jianfang Hu,Jin Qi,Donglin Liu

doi:10.18632/oncotarget.25055

Pengguo Chen, Zhibin Gong + Show 5 more

Open Access

https://doi.org/10.18632/oncotarget.25055

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Abstract

Systemic amyloidosis is a rare disease involving multiple organs. It is difficult to establish diagnosis as the symptoms is diverse and non-specific. And without specific therapy the prognosis is very poor. We analyzed detailed clinical and laboratorial data of a 53-year-old male patient. The characteristic features included refractory pleural effusion, extraordinary hepatomegaly and cardiac failure. The illness lasted 9 months and therapy period spanned 4 months. Fine needle biopsy of liver, lung, heart, pancreas and kidney was performed. Immunohistochemistry, immunofluorescence, Congo staining and hematoxylin and eosin staining were performed. All specimens were stained pink with haematoxylin and eosin staining. Amorphous deposits of eosinophilic material were visible within the Congo red dye stained liver tissue whereas under cross-polarized light pathognomonic apple-green birefringence of amyloid deposits was visible. At last systemic AL amyloidosis diagnosis was confirmed. The report showed an unusual AL amyloidosis case in detail which would be helpful for physician in clinical work.

Highlights

The amyloidosis is rare disease that result from extracellular deposition of amyloid, a fibrillar material derived from various precursor proteins which selfassemble with highly ordered abnormal crossβ-sheet conformation [1]
The amyloidosis is rare disease that result from extracellular deposition of amyloid which contain several minor non-fibrillary constituents, including glycosaminoglycans (GAGs) and serum amyloid P component (SAP)
The specific, highly ordered ultrastructure of amyloid fibrils accounts for their characteristic property of binding Congo red dye in a spatial manner that produces green birefringence when viewed under cross-polarized light

Summary

RESULTS

The amyloidosis is rare disease that result from extracellular deposition of amyloid, a fibrillar material derived from various precursor proteins which selfassemble with highly ordered abnormal crossβ-sheet conformation [1]. Initial laboratory examinations revealed increased serum NT-proBNP level (6943 pg/ml, reference 0–300 pg/ml) and CA125 level (237.5 u/ml, reference 0–35 U/ml) whereas tuberculosis antibody was negative, routine analysis of blood and urine and ESR were within normal limits. The patient was diagnosed as liver cancer or lymphoma and was treated with ursodeoxycholic acid, ginseng, aspartate ornithine and mannitol. Echocardiography demonstrated both ventricles were normal in size along with left ventricular wall thickness increased, ejection fraction reduced (43%) and left atrium enlarged (Figure 1C). Amorphous deposits of eosinophilic material was visible within the Congo red dye stained liver tissue which has a pink-orange color. Immunofluorescence analysis (Figure 4D) showed bright green fluorescence exhibited by hepatic amyloid deposits using the novel luminescent conjugated polymer pentameric formicthiophene acetic acid (pFTAA)

DISCUSSION

Findings

MATERIALS AND METHODS