Huge and Multiple Xanthomas Misdiagnosed as Rheumatoid Nodules and Mistreated with Multiple Surgical Excisions over 4 Years, A Case Report

Background: Xanthoma is the iceberg of familial hypercholesterolemia; it’s resemblance to other cutaneous lesions such as rheumatoid nodules might lead to misdiagnosis. We emphasize in this case report the importance of comprehensive clinical and investigatory approach to cutaneous lesions as they could be the only manifestation of systemic diseases, and this helps to avoid delayed management and unnecessary interventions. Aim: Xanthomas as a possible diagnosis for multiple skin nodules, as it can be easily supported by performing simple noninvasive blood tests; the lipid panel. Case report: Female patient, presented with multiple skin lesions and a strong family history of premature coronary artery disease. She was firstly managed with multiple surgical resections as having benign masses, and later was misdiagnosed as having rheumatoid nodules and referred to rheumatology clinic for evaluation, wherein a clinical suspicion of xanthomas originated, and was supported by the severely elevated serum LDL level and a tissue diagnosis of xanthoma. She has been started on statins with regular clinic. Conclusion: The purpose of this case study is to explain the importance of including xanthomas within the differential diagnosis of recurrent skin lesions. Whereas the tissue diagnosis is the gold-slandered investigation, simple noninvasive blood test, serum lipid measurement can be the clue for diagnosis of the hidden fatal but easily controllable disease; familial hypercholesterolemia.