A Rare Case of Systemic Cystic Angiomatosis in an Elderly Female Initially Misdiagnosed as Vascular Neoplasm: A Case Report and Literature Review

Abstract

Introduction: Systemic cystic angiomatosis is an exceedingly rare condition characterized by widespread cystic vascular lesions involving multiple organs. Its clinical presentation can be non-specific, often leading to diagnostic challenges. This report discusses the case of a 72-year-old female with a long-standing history of diabetes mellitus who presented with non-specific symptoms, ultimately diagnosed with systemic cystic angiomatosis after an initial misdiagnosis of vascular neoplasia. The role of advanced imaging techniques and a multidisciplinary, individualized management approach is emphasized.

Case report: A 72-year-old female with long-standing diabetes presented with non-specific symptoms, including fatigue, fever, and rashes on the upper limbs. Initial physical examination revealed anemia and severe thrombocytopenia with a leukoerythroblastic blood picture. Despite unremarkable initial imaging studies, a bone marrow biopsy suggested vascular neoplasia. Further evaluation with a positron emission tomography (PET) scan revealed multiple non-avid lytic skeletal areas and cystic liver lesions, leading to a diagnosis of systemic cystic angiomatosis. A conservative management approach with danazol and eltrombopag was adopted. The patient later developed an acute-on-chronic subdural hematoma, a severe complication of the condition.

Conclusion: This case highlights the diagnostic complexity and the necessity for individualized management strategies in systemic cystic angiomatosis. It underscores the importance of considering rare diagnoses when faced with non-specific symptoms and atypical laboratory findings. Advanced imaging techniques, such as PET scans, and a multidisciplinary approach are crucial for accurate diagnosis and effective management of this rare condition.

Keywords: Systemic cystic angiomatosis; advanced imaging; danazol; eltrombopag; individualized management; multidisciplinary approach; positron emission tomography scan; rare diagnoses; subdural hematoma; vascular neoplasia.