Discussion
At present, the etiology or pathogenesis for amyloidosis is still unclear. The study of Shientag Lisa J et al. showed that in birds, R52L mutation in the SSA gene might be a genetic factor of hepatic amyloidosis[2]. And all diseases depend on the proportion and interaction of genetics and environment. There is still no report concerning studies on genetic polymorphism in humans for the low incidence rate and poor prognosis. Mahesh Lakmal Gunathilaka et al reported a case of chronic liver damage possibly caused by gasoline[3]. And in terms of environmental factors, the case had been engaged in the automobile repair for a long time. People have pay attention to the association of gasoline with human diseases, including liver disease, as well as the mutation of related genes. For amyloidosis, the early clinical manifestations were atypical, and relevant symptoms were various, and so, we need to inquire the medical history repeatedly, and perform check-ups carefully. In order to reduce the rate of misdiagnosis, it is necessary to be familiar with the diagnostic process of rare diseases based on understanding of common diseases and their etiology. For the treatment of light chain amyloidosis, bortezomib in combination with dexamethasone or cyclophosphamide has been considered, but the prognosis remains poor.
This case is a middle-aged male patient treated in several hospitals for recurrent nausea, abdominal distension, yellowing of the sclera, edema of lower limbs, and poor sleep. During the course of disease, spontaneous splenic rupture occurred for unknown reasons, for which we exerted efforts to found the reasons. The hemogram showed a progressive decline of red blood cells and platelets. The main manifestations for liver function were continuously increased ceramic oxalacetic transaminase and total bilirubin, and decreased albumin and total cholesterol, for blood coagulation function, progressive aggravation. The patient denied histories of hepatitis B, hepatitis C, tuberculosis, malaria, and contact with epidemic water. B- ultrasonography of the liver indicated that the liver was being enlarged. Transient fibrous imaging of the liver showed a median liver hardness of 25.9 kPa and a median fat attenuation of 21. dm /m. The reexamination of hepatitis virus in our hospital showed no abnormality in autoimmune liver antibody and ceruloplasmin. Pathological re-examination of spleen and liver pathology confirmed the diagnosis of light chain amyloidosis with chronic liver failure. The patient is still under follow-up.