Journal of Yeungnam Medical Science

Case report

A rare pathogenic variant identified in a heart transplant recipient with hereditary transthyretin amyloidosis: a case report: Myeong Seop Kim, Soo Youn Lee, Kyung-Hee Kim; J Yeungnam Med Sci. 2023;40(Suppl):S98-S104. Published online May 30, 2023; DOI: https://doi.org/10.12701/jyms.2023.00241

Abstract PDF: Hereditary transthyretin (ATTRv) amyloidosis is a rare and complex genetic disorder that can lead to life-threatening cardiac amyloidosis and rapid disease progression. Early diagnosis and treatment with disease-modifying drugs can improve patient outcomes; however, heart transplantation may be necessary in some patients. We present the unique case of a 65-year-old Korean woman diagnosed with ATTRv amyloidosis after experiencing progressive neurological symptoms, followed by heart failure. Despite the absence of significant symptoms of heart failure, subsequent screening revealed cardiac amyloid infiltration, which caused left ventricular hypertrophy and rapid disease progression. The patient underwent successful heart transplantation, and subsequent genetic testing revealed a pathogenic variant, NM_000371.3:c.425T>C (p.Val142Ala), which affects both the nerves and heart and has not been previously reported in Korea. Our report underscores the potential benefits of heart transplantation in managing advanced ATTRv amyloidosis and emphasizes the need for continued research on the genetic heterogeneity of the disease. Clinicians should consider ATTRv amyloidosis in the differential diagnosis of patients presenting with neurological symptoms and heart failure, particularly in those with a family history of the disease.

Case Reports

Secondary amyloidosis complication of Crohn disease treated with infliximab.: Min Joo Song, Hyo Sang Kim, Soyoung Park, Jaekyung Cheon, Sojung Park, Ji Young Yang, Su Kil Park; Yeungnam Univ J Med. 2015;32(2):102-105. Published online December 31, 2015; DOI: https://doi.org/10.12701/yujm.2015.32.2.102

Abstract PDF: Secondary systemic (AA) amyloidosis is a severe complication of progressed Crohn disease (CD) characterized by the deposition of amyloid A in body organs and tissues. Various therapeutic approaches have been recommended, however there is still no effective treatment. Recently, several case reports have demonstrated the effects of anti-tumor necrosis factor-alpha therapy in patients with AA amyloidosis associated with CD. We report on a 35-year-old female patient with CD complicated by AA amyloidosis in the gastrointestinal tract and renal involvement, who was treated with infliximab. The infliximab therapy improved the gastrointestinal symptoms and decreased the serum creatinine.

A Case of Multiple Myeloma with AL Amyloidosis Successfully Treated with Autologous Stem Cell Transplantation: Ha-young Lee, Kyung Hee Lee, Min Kyoung Kim, Hee Soon Cho, Myung Soo Hyun; Yeungnam Univ J Med. 2007;24(2 Suppl):S676-682. Published online December 31, 2007; DOI: https://doi.org/10.12701/yujm.2007.24.2S.S676

Abstract PDF: Myeloma is a disease of neoplastic B lymphocytes that synthesize abnormal amounts of immunoglobulin (Ig) or Ig fragments. Ten to twenty percent of myeloma patients are known to develop clinical evidence of amyloid-light chain(AL) amyloidosis. A high index of suspicion, however, is needed to make a diagnosis of amyloidosis. We report a case of multiple myeloma with AL amyloidosis successfully treated with autologous stem cell transplantation. In our case, the patient presented with longstanding abdominal discomfort and anterior chest pain. Chest X-ray showed several osteolytic changes on ribs. Endoscopic biopsy revealed massive amyloid deposits in the wall of stomach and rectum. Serum/urine protein electroporesis and bone marrow biopsy confirmed the diagnosis of multiple myeloma. At 18 months after high dose chemotherapy and autologous stem cell transplantation(ASCT), the patient maintained a complete response. In patients with multiple myeloma with AL amyloidosis, high dose chemotherapy and ASCT can be effective treatment strategy.

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