Hummel Kelsey, Meawad Hany, Gunning William T, Gohara Amira F
Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA.
City of Hope Laboratories, Duarte, CA 91010, USA.
Diseases. 2021 May 28;9(2):40. doi: 10.3390/diseases9020040.
Light chain amyloidosis (AL) causes irreversible multi-organ damage if not diagnosed early in the disease process. Fat pad biopsy is thought to be a highly sensitive screening test in systemic AL cases, especially if greater than three organs are involved. We present a case of a 64-year-old female who was admitted to the hospital with worsening heart and kidney failure, anasarca, increased free serum lambda light chains, and a negative fat pad biopsy for amyloidosis. Later, she developed asystole, bradycardia, severe hypotension, and respiratory distress. Because X-rays of her calvarium showed multiple osteolytic lesions, a bone marrow biopsy was planned to assess for multiple myeloma. Due to her non-reassuring vitals, the biopsy was not attempted, and she passed away several weeks later. Autopsy findings identified the cause of death as multiple system organ failure due to systemic AL. Through microscopic examination, pathologists found amyloid deposits in her heart, kidneys, rectum, thyroid, adrenals, bone marrow, liver, and spleen. Postmortem fat pad biopsy was negative; however, bone marrow biopsy demonstrated clusters of CD138-positive cells, confirming plasma cell dyscrasia. In cases with a negative fat pad biopsy, an additional superficial or involved organ biopsy should be pursued to establish a diagnosis of amyloidosis if strong clinical suspicion exists.
轻链型淀粉样变性（AL）如果在疾病进程中未早期诊断，会导致不可逆的多器官损害。脂肪垫活检被认为是系统性AL病例中一项高度敏感的筛查试验，尤其是在累及三个以上器官的情况下。我们报告一例64岁女性病例，该患者因心力衰竭和肾衰竭加重、全身性水肿、游离血清λ轻链升高入院，脂肪垫活检结果为淀粉样变性阴性。后来，她出现心搏停止、心动过缓、严重低血压和呼吸窘迫。由于她的颅骨X线显示多处溶骨性病变，计划进行骨髓活检以评估是否患有多发性骨髓瘤。由于她的生命体征不稳定，未尝试进行活检，几周后她去世。尸检结果确定死因是系统性AL导致的多系统器官衰竭。通过显微镜检查，病理学家在她的心脏、肾脏、直肠、甲状腺、肾上腺、骨髓、肝脏和脾脏中发现了淀粉样沉积物。死后脂肪垫活检结果为阴性；然而，骨髓活检显示CD138阳性细胞簇，证实存在浆细胞异常增殖。在脂肪垫活检结果为阴性的病例中，如果临床高度怀疑，应进行额外的浅表或受累器官活检以确诊淀粉样变性。
