Jhawar Nikita, Reynolds Jordan, Nakhleh Raouf, Lyle Melissa
Department of Internal Medicine, Mayo Clinic, 4500 San Pablo Road S, Jacksonville, FL 32224, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic, 4500 San Pablo Road S, Jacksonville, FL 32224, USA.
Eur Heart J Case Rep. 2023 Mar 6;7(3):ytad108. doi: 10.1093/ehjcr/ytad108. eCollection 2023 Mar.
Amyloidosis is a systemic disorder of abnormal protein folding and deposition resulting in a range of symptoms including neuropathy, heart failure, renal disease, and dermatologic findings. The two most common types of amyloidosis that affect the heart are transthyretin (ATTR) amyloidosis and light chain (AL) amyloidosis, which vary in clinical presentation. Skin findings such as periorbital purpura are considered more specific for AL amyloidosis. However, there are rare cases of ATTR amyloidosis causing the same dermatologic findings.
A 69-year-old female presented for evaluation of amyloidosis after cardiac imaging done at the time of a recent atrial fibrillation ablation showed signs of infiltrative disease. On examination, she had periorbital purpura which she reportedly had for years without receiving a diagnosis, as well as macroglossia with teeth indentation. These exam findings, in addition to her transthoracic echocardiogram showing apical sparing, are typically considered characteristic of AL amyloidosis. Subsequent workup revealed the presence of hereditary ATTR (hATTR) amyloidosis with a heterozygous pathogenic variant in the gene producing the p.Thr80Ala mutation.
Spontaneous periorbital purpura is thought to be pathognomonic for AL amyloidosis. However, we describe a case of hereditary ATTR amyloidosis with the Thr80Ala genetic variant presenting initially with periorbital purpura, the first case documented in the literature to our knowledge.
淀粉样变性是一种异常蛋白质折叠和沉积的全身性疾病，会导致一系列症状，包括神经病变、心力衰竭、肾脏疾病和皮肤表现。影响心脏的两种最常见的淀粉样变性类型是转甲状腺素蛋白（ATTR）淀粉样变性和轻链（AL）淀粉样变性，它们的临床表现有所不同。诸如眶周紫癜等皮肤表现被认为对AL淀粉样变性更具特异性。然而，罕见有ATTR淀粉样变性导致相同皮肤表现的病例。
一名69岁女性在近期房颤消融术时进行心脏成像后因淀粉样变性前来评估。检查发现，她有眶周紫癜（据报道已存在数年但未得到诊断）以及有齿痕的巨舌。这些检查结果，加上她的经胸超声心动图显示心尖部未受累，通常被认为是AL淀粉样变性的特征。后续检查发现存在遗传性ATTR（hATTR）淀粉样变性，在产生p.Thr80Ala突变的基因中有一个杂合致病性变异。
自发性眶周紫癜被认为是AL淀粉样变性的特征性表现。然而，我们描述了一例携带Thr80Ala基因变异的遗传性ATTR淀粉样变性病例，最初表现为眶周紫癜，据我们所知这是文献中记录的首例此类病例。
