Junejo Shoaib, Ali Yasir, Singh Lubana Sandeep, Tuli Sandeep S
Icahn School of Medicine at Mount Sinai-Queens Hospital Center, Jamaica, NY, USA.
Department of Endocrinology, NYC Health and Queens Hospital Center, Jamaica, NY, USA.
Am J Case Rep. 2017 Nov 25;18:1247-1250. doi: 10.12659/ajcr.907041.
BACKGROUND Amyloidosis is the extracellular tissue deposition of plasma proteins, which after conformational changes, forms antiparallel beta pleated sheets of fibrils. Amyloid light-chain (AL) is a type of amyloidosis that is due to deposition of proteins derived from immunoglobulin (Ig) light chains. Gastrointestinal tract (GIT) involvement most often found in amyloid A (AA) amyloidosis type. There have been no reports of obstructive GIT AL amyloid patients having monoclonal gammopathy of undetermined significance (MGUS). Our case is the first case to show two coinciding conditions; one is the association of GIT AL amyloidosis with the incidental finding of a rare type of MGUS (LC-MGUS) and the other is the radiologic presentation of GIT amyloidosis with omental calcification mimicking the GIT malignancy. CASE REPORT A 68-year-old female presented with symptoms of partial bowel obstruction, including intermittent diffuse abdominal pain and constipation. After computed tomography (CT) abdomen and pelvis, an exploratory laparotomy was needed because of suspicion of abdominal carcinomatosis due to diffuse omental calcification. The tissue sent for biopsy surprisingly showed AL amyloidosis. The patient did not report any systemic symptoms. Further workup was advised to inquire about the plasma cell dyscrasia which eventually turned into a very rare version of MGUS knows as light chain MGUS (LC-MGUS). Following adequate resection of the involved structures, the patient was then placed on chemotherapy and successfully went into remission. CONCLUSIONS This case report illustrates that in an era of evidence based medicine, it is important to show through case reports the association of GIT AL amyloidosis with LC-MGUS, as the literature on this topic is lacking. It also points to the importance of timely intervention that can greatly enhance, not only the only the chances of remission but also prevention of further complications such as malignant transformation.
淀粉样变性是血浆蛋白在细胞外组织沉积,这些蛋白经构象改变后形成反平行β折叠片层的纤维。淀粉样轻链(AL)是一种淀粉样变性,由免疫球蛋白(Ig)轻链衍生的蛋白质沉积所致。胃肠道(GIT)受累最常见于淀粉样A(AA)型淀粉样变性。尚无关于阻塞性GIT AL淀粉样变性患者合并意义未明的单克隆丙种球蛋白病(MGUS)的报道。我们的病例是首例显示两种情况同时存在的病例;一是GIT AL淀粉样变性与罕见类型的MGUS(轻链型MGUS,LC-MGUS)偶然发现相关,另一个是GIT淀粉样变性伴大网膜钙化的放射学表现酷似GIT恶性肿瘤。
一名68岁女性出现部分肠梗阻症状,包括间歇性弥漫性腹痛和便秘。腹部和盆腔计算机断层扫描(CT)后,因怀疑弥漫性大网膜钙化导致腹部癌转移而需要进行剖腹探查术。送去活检的组织令人惊讶地显示为AL淀粉样变性。患者未报告任何全身症状。建议进一步检查以询问浆细胞异常增生情况,最终发现为一种非常罕见的MGUS类型,即轻链MGUS(LC-MGUS)。在对受累结构进行充分切除后,患者接受化疗并成功缓解。
本病例报告表明,在循证医学时代,通过病例报告展示GIT AL淀粉样变性与LC-MGUS的关联很重要,因为关于这一主题的文献较少。它还指出了及时干预的重要性,这不仅可以大大提高缓解的机会,还能预防进一步的并发症,如恶性转化。