Lame Dorela, Pianelli Michelangelo, Kordasti Shahram, Morsia Erika, Olivieri Attilio, Poloni Antonella
AOU Delle Marche, Università Politecnica Delle Marche, 60126 Ancona, Italy.
Hematol Rep. 2024 Mar 4;16(1):125-131. doi: 10.3390/hematolrep16010013.
Sarcoidosis, a multi-organ system disease, often presents insidiously. Thrombocytopenia in sarcoidosis is frequent because of hypersplenism, granulomas infiltrating the bone marrow, or immune thrombocytopenia (ITP). The diagnosis of ITP relies on exclusionary criteria, given the absence of a definitive laboratory diagnostic feature. In the era prior to modern ITP management, sarcoidosis-associated ITP was known to manifest severely, often showing resistance to treatment and an increased risk of mortality. In this case, we present a young male who was admitted to a district hospital's emergency room, displaying symptoms of hematuria, gingival bleeding, and a petechial rash. Blood tests revealed severe thrombocytopenia with a platelet count of 0, while all other metabolic and serological exams returned normal results. Infectious and autoimmune causes were ruled out, and a bone marrow examination excluded any hematological disorder. Initial management, including platelet transfusion and presumptive treatment for ITP with dexamethasone and Human Immunoglobulin IV (IVIG), failed to improve the patient's platelet count or alleviate the hemorrhagic diathesis. Second-line therapy with Rituximab and Methylprednisolone was initiated with no benefit. Considering the hemorrhagic signs and the delayed response of Rituximab, we shifted to third-line therapy with Romiplostim at the maximal dose and continued Methylprednisolone. The platelet count recovered completely after the second Romiplostim administration (over 350 × 10 platelets/L) and Methylprednisolone was rapidly tapered. To further study the causes of thrombocytopenia a total body CT scan was performed and it identified non-homogeneously hypodense tissue in the bilateral hilar area extending medially to the subcarinal area, suggesting possible lymphatic origin and raising suspicion of sarcoidosis. Further investigations, including Angiotensin Converting Enzyme (ACE) titration, bronchoscopy, bronchoalveolar lavage, and EndoBronchial UltraSound-guided TransBronchial Needle Aspiration (EBUS-TBNA), confirmed the diagnosis of sarcoidosis. Despite a mild restrictive insufficiency noted in spirometry, the patient remained asymptomatic with only a mild respiratory insufficiency, and hence, was enlisted for follow-up. As for the ITP, the platelet count remained normal over a year. Notably, while sarcoidosis onset often predates ITP onset by an average of 48 months, in our case the onset of the two diseases was simultaneously. Our case adds valuable information to the limited body of knowledge regarding the treatment of sarcoidosis-associated ITP.
结节病是一种多器官系统疾病，通常隐匿起病。结节病患者常因脾功能亢进、肉芽肿浸润骨髓或免疫性血小板减少症（ITP）而出现血小板减少。由于缺乏明确的实验室诊断特征，ITP的诊断依赖于排除标准。在现代ITP治疗方法出现之前的时代，已知结节病相关的ITP表现严重，常对治疗耐药且死亡风险增加。在本病例中，我们介绍一名年轻男性，他因出现血尿、牙龈出血和瘀点皮疹症状而入住地区医院急诊室。血液检查显示严重血小板减少，血小板计数为0，而所有其他代谢和血清学检查结果均正常。排除了感染和自身免疫性病因，骨髓检查排除了任何血液系统疾病。初始治疗包括血小板输注以及用地塞米松和静脉注射用人免疫球蛋白（IVIG）对ITP进行经验性治疗，但未能提高患者的血小板计数或缓解出血倾向。使用利妥昔单抗和甲泼尼龙进行二线治疗也无效。考虑到出血体征以及利妥昔单抗反应延迟，我们转而采用最大剂量的罗米司亭进行三线治疗，并继续使用甲泼尼龙。在第二次注射罗米司亭后（血小板计数超过350×10⁹/L）血小板计数完全恢复，甲泼尼龙迅速减量。为进一步研究血小板减少的原因，进行了全身CT扫描，结果显示双侧肺门区域有不均匀低密度组织，向内延伸至隆突下区域，提示可能起源于淋巴管，怀疑为结节病。进一步检查，包括血管紧张素转换酶（ACE）测定、支气管镜检查、支气管肺泡灌洗和支气管内超声引导下经支气管针吸活检（EBUS-TBNA），确诊为结节病。尽管肺功能检查显示有轻度限制性通气不足，但患者仅伴有轻度呼吸功能不全，无症状，因此被列入随访。至于ITP，血小板计数在一年多时间内保持正常。值得注意的是，虽然结节病通常比ITP发病平均早48个月，但在我们的病例中，这两种疾病同时发病。我们的病例为关于结节病相关ITP治疗的有限知识体系增添了有价值的信息。
