13. A case report of the first hereditary transthyretin cardiac amyloidosis diagnosed in Vietnam
Nội dung chính của bài viết
Tóm tắt
Amyloid cardiomyopathy is a cardiovascular disease characterized by infiltration of amyloid into the heart muscle and other organs in the body, triggering impaired function of the heart and other organs. There are three main subtypes of amyloidosis including primary or AL amyloidosis, secondary or AA amyloidosis and hereditary or familial amyloidosis. Hereditary amyloidosis is less common, caused by an autosomal-dominant mutation most frequently in the transthyretin gene and has a more favorable prognosis.1,3 In this paper, we will be looking into a rare case of hereditary transthyretin amyloid disease with a genetic mutation (mutant TransThyRetin Amyloidosis - ATTRm), the first to be reported in Vietnam. That is a 47-year-old Vietnamese man with various clinical manifestations, including gastrointestinal disturbances (diarrhea, watery stool), periorbital purpura, macroglossia, autonomic neuropathy (dizziness, orthostatic hypotension, limb numbness, faint), and cardiovascular symptoms (dyspnea, leg edema, severe heart arrhythmias). The patient has a notable family history of many members appeared to have shown signs of the same disease and passed on without a diagnosis. A multimodality team in hematology, nuclear medicine, genetics, dermatology, and cardiology was assigned to the patient. We concluded that the patient was suffering from a form of ATTRm with a different genetic mutation from the common gene mutation in the world. Our patient is currently enrolled in a research program with a pharmaceutical manufacturer providing specific treatment and free medication. He is responding well to treatment and has shown signs of improvement.
Chi tiết bài viết
Từ khóa
ATTR, amyloidosis, polyneuropathy, case report, c.209G>T (p.Ser70Ile)
Tài liệu tham khảo
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