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.