Xanthoma simulating gouty tophus (case report of atypical cholesterol crystal deposition)

Abstract

The most common clinical manifestation of hyperlipidemia is the formation of xanthomas, which are most often localized subcutaneously, sometimes involving tendons and ligaments, and are usually asymptomatic. A fairly rare manifestation of hyperlipidemia is hypercholesterolemic arthritis caused by cholesterol crystals. In this article, we present a case of atypical xanthoma formation in a patient in the area of the first metatarsophalangeal joint, which resembled a gouty tophus. Taking into account the presence of hyperuricemia in the blood and the “classic” lesion of the first metatarsophalangeal joint, gout was primarily suspected in the patient. The diagnosis of arthritis associated with cholesterol crystals was confirmed using the “gold standard” diagnosis of microcrystalline arthritis-crystal detection using polarization microscopy. This case gives a clear idea of how important it is not to rely solely on the clinical picture when diagnosing gout.

Keywords

case report / cholesterol crystals / hyperlipidemia / gout / tophus / polarization microscopy

References

[1] Hill MF, Bordoni B. Hyperlipidemia. Treasure Island (FL): StatPearls Publishing; 2025.

[2] Coiffier G, Albert J, Robin F, Guggenbuhl P. Acute phospholipid microspherule associated arthritis: Is it rare? Joint Bone Spine. 2017; 84: 537-40.

[3] Morales JK, Jackson SA, Dominguez AM, Thomas TJ, Sreepad B, Sheu AJ, et al. The importance of dermatological detection of xanthomas and xanthelasmas in pediatric patients: A literature review. JAAD Reviews. 2025; 4: 149-55.

[4] Salavastru C, Copaci FI, Vrinceanu D, Sendrea AM, Tiplica GS. Tophaceous Gout - When the Skin Comes First. Acta Dermatovenerol Croat. 2020; 28: 223-7.

[5] Bieber A, Schlesinger N, Fawaz A, Mader R. Chronic tophaceous gout as the first manifestation of gout in two cases and a review of the literature. Semin Arthritis Rheum. 2018; 47: 843-8.

[6] Evidence review for what signs and symptoms indicate gout as a possible diagnosis? Gout: diagnosis and management. London: National Institute for Health and Care Excellence (NICE); 2022.

[7] Oliviero F, Mandell BF. Synovial fluid analysis: Relevance for daily clinical practice. Best Pract Res Clin Rheumatol. 2023; 37: 101848.

[8] Dieppe P, Swan A. Identification of crystals in synovial fluid. Ann Rheum Dis. 1999; 58: 261-3.

[9] Tan M, Mo C, Li F, Zhao Q. The association between serum uric acid and hypertriglyceridemia: evidence from the national health and nutrition examination survey (2007-2018). Front Endocrinol (Lausanne). 2023; 14: 1215521.

[10] Kuwabara M, Borghi C, Cicero AFG, Hisatome I, Niwa K, Ohno M, et al. Elevated serum uric acid increases risks for developing high LDL cholesterol and hypertriglyceridemia: A five-year cohort study in Japan. Int J Cardiol. 2018; 261: 183-8.

[11] Al Aboud AM, Shah SS, Blair K, Al Aboud DM. Xanthelasma Palpebrarum. Treasure Island (FL): StatPearls; 2025.

[12] Mathon G, Gagné C, Brun D, Lupien PJ, Moorjani S. Articular manifestations of familial hypercholesterolaemia. Ann Rheum Dis. 1985; 44: 599-602.

[13] Klemp P, Halland AM, Majoos FL, Steyn K. Musculoskeletal manifestations in hyperlipidaemia: a controlled study. Ann Rheum Dis. 1993; 52: 44-8.

[14] Padhan P, Pradhan P, Mohanty I. Hypercholesterolemic arthritis in a young female. Eur J Rheumatol. 2020; 7: 96- 7.

[15] Sugimoto T, Sakuda T, Hirata S. Cholesterol Crystal-induced Arthritis. Intern Med. 2025; 64: 1946-7.