Matos Ana, Bordalo Marta, Silva Hugo
Family Medicine, Unidade de Saúde Familiar (USF) Amato Lusitano, Unidade Local de Saúde (ULS) de Amadora/Sintra, Amadora, PRT.
Cureus. 2024 Dec 10;16(12):e75490. doi: 10.7759/cureus.75490. eCollection 2024 Dec.
Sarcoidosis is a rare, multisystemic disease of unknown etiology, characterized by noncaseating granulomas in various organs. The disease often presents with nonspecific symptoms that complicate the diagnosis. We describe the case of a 31-year-old woman who presented to her family doctor with weight loss, cervical lymphadenopathy, parotid edema, and cutaneous lesions, initially raising suspicion of a lymphoproliferative disorder. A thoraco-abdominopelvic CT scan revealed extensive lymphadenopathy and multiorgan involvement, consistent with sarcoidosis. While awaiting outpatient evaluation by internal medicine, the patient developed arthralgias and was subsequently admitted for further investigation. She was ultimately diagnosed with sarcoidosis with multiorgan involvement, including the lymphatic, pulmonary, lacrimal, salivary, hepatic, splenic, and cutaneous systems. Retrospective analysis suggested that parotitis during pregnancy five years earlier was likely the initial manifestation of the disease. This case underscores the importance of early recognition and multidisciplinary management in sarcoidosis, particularly when the disease has widespread systemic involvement and nonspecific symptoms. Family physicians, often the first point of contact, play a crucial role in identifying early signs, ensuring appropriate referrals, and coordinating long-term follow-up.
结节病是一种病因不明的罕见多系统疾病,其特征是各器官出现非干酪样肉芽肿。该疾病常表现为非特异性症状,这使得诊断变得复杂。我们描述了一名31岁女性的病例,她因体重减轻、颈部淋巴结病、腮腺水肿和皮肤病变就诊于家庭医生,最初怀疑是淋巴增殖性疾病。胸腹部盆腔CT扫描显示广泛的淋巴结病和多器官受累,符合结节病表现。在等待内科门诊评估期间,患者出现关节痛,随后入院进一步检查。她最终被诊断为多器官受累的结节病,累及淋巴、肺、泪腺、唾液腺、肝、脾和皮肤系统。回顾性分析表明,五年前怀孕时的腮腺炎可能是该疾病的最初表现。该病例强调了结节病早期识别和多学科管理的重要性,尤其是当疾病有广泛的全身受累和非特异性症状时。家庭医生通常是首诊医生,在识别早期症状、确保适当转诊以及协调长期随访方面发挥着关键作用。