ABSTRACT
Introduction and importance: Systemic lupus erythematosus (SLE) predominantly affects young women and is associated with an increased risk of thrombosis. Antiphospholipid antibody syndrome (APS) may complicate the clinical picture, often leading to recurrent arteriovenous thrombosis. This case report underscores the significance of two unique aspects: the rare occurrence of an atrial thrombus and the presence of antinuclear antibody (ANA)-negative SLE. Case presentation: A 32-year-old woman presented with a history of symmetric polyarticular joint pain, oral ulcers, significant weight loss, and a history of unprovoked popliteal thrombosis and two unexplained abortions. One week prior to admission, she experienced severe headaches and elevated blood pressure. Clinical evaluation revealed several abnormalities, including a systolic murmur, livedo reticularis, and a transthoracic echocardiogram showing severe mitral regurgitation and an atrial thrombus. A transesophageal echocardiogram confirmed the presence of a pedunculated lesion in the right atria, challenging differential diagnosis. Clinical discussion: ANA-negative SLE, though rare, was observed in this patient, highlighting diagnostic complexities. APS compounded the clinical presentation, emphasizing the importance of identifying specific autoantibodies and recurrent thrombotic events. In the case of atrial thrombus, differentiation from other cardiac conditions, such as myxoma or vegetation, is a key. Conclusions: This case underscores the critical importance of recognizing and managing atrial thrombus, a rare but life-threatening complication in patients with systemic lupus erythematosus and antiphospholipid syndrome. Additionally, the diagnostic challenge of ANA-negative SLE warrants careful consideration in patients presenting with characteristic features of the disease.
ABSTRACT
Introduction and Importance: Granulomatous mastitis is a rare inflammatory disorder of the breast, which can be either idiopathic or due to secondary etiology. This disease affects women of reproductive age. The exact pathophysiology underlying idiopathic granulomatous mastitis (IGM) remains unclear, but it is believed to be mediated by immunological processes. Establishing a diagnosis of this condition could be challenging due to the long list of differential diagnoses that it creates. Case Presentation: We report a 24-year-old Syrian female presented to the clinic complaining of a 2-week history of fatigue, fever and chills, swelling, and localized pain in her left breast. Physical examination revealed erythema nodosum, episcleritis, and arthralgia in the wrists, ankles, and elbows. An excisional biopsy was done and a microscopic examination of the lesion confirmed granulomatous perilobular mastitis. Symptoms had resolved after the surgical excision and follow-up evaluation showed no signs of recurrence. Clinical Discussion: IGM typically presents as an enlarging breast mass that can be mistaken for breast cancer or an abscess. The diagnostic approach should consider the presence of extramammary symptoms such as fever, arthralgia, and fatigue. Treatment options include corticosteroids, surgical excision, or steroid-sparing agents, but relapse rates vary. Conclusions: Episcleritis should be considered as a potential extramammary manifestation in cases of IGM. We highlight the importance of recognizing and investigating the potential systemic involvement in patients with IGM. Accurate interpretation of pathological and radiological findings by a multidisciplinary breast team can facilitate the diagnosis and reduce unnecessary interventions.
