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J Clin Lipidol. 2019 Jan - Feb;13(1):54-61. doi: 10.1016/j.jacl.2018.10.005. Epub 2018 Oct 24.

Recurrent tendosynovitis as a rare manifestation of a lipid disorder.

Author information

1
Department of Medicine A, Klinikum Ludwigshafen, Ludwigshafen, Germany.
2
Department of Internal Medicine V (Nephrology, Rheumatology, Hypertensiology, Endocrinolgy, Diabetology), Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany.
3
SYNLAB Zentrum für Humangenetik Mannheim, Mannheim, Germany.
4
Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria.
5
Department of Internal Medicine V (Nephrology, Rheumatology, Hypertensiology, Endocrinolgy, Diabetology), Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany; Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria; Synlab Academy, Synlab Holding Deutschland GmbH, Mannheim, Germany.
6
Department of Internal Medicine V (Nephrology, Rheumatology, Hypertensiology, Endocrinolgy, Diabetology), Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany; Mannheim Institute of Public Health, Social and Preventive Medicine, Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany. Electronic address: tanja.grammer@medma.uni-heidelberg.de.

Abstract

A 33-year-old female had suffered from spontaneously recurrent bursitis and tendosynovitis/enthesitis of the patellar and Achilles tendons for about 10 years. The episodes of immobilization increased. Ultrasound imaging of the swollen and painful tendons showed chronic inflammation with neoangiogenesis within the tendons and hypoechoic lesions. Clinical and laboratory tests did not provide evidence for a rheumatic disease. Low density lipoprotein cholesterol was elevated. Biopsies of skin lesions did not confirm the suspicion of cutaneous xanthomas. Genetic testing for familial hypercholesterolemia was negative. Campesterol and sitosterol were elevated 7- to 12-fold and 20- to 38-fold over the upper limit of normal on two occasions. There was no relevant mutation in ABCG5. In ABCG8, we identified a missense mutation c.1267G>A in exon 9 changing glutamic acid 423 into lysine within the transmembrane domain, and an insertion of adenine (c.1487insA) leading to a frameshift and a premature stop codon (Ile497Aspfs*105). The patient had no clinical evidence of premature atherosclerosis. Therapeutic approaches with nonsteroidal antirheumatic drugs, prednisone, statins, and ezetimibe accompanied by a diet poor in plant sterols led to a relief of symptoms. This case report shows that tendon xanthoma along with tendosynovitis, especially on extensor areas, is suspicious for hypercholesterolemia as the underlying cause. The absence of atherosclerotic plaques in the abdominal aorta and in the carotid arteries on ultrasound may suggest that phytosterolemia is not necessarily accompanied by premature vascular disease.

KEYWORDS:

ABCG5/8; Atherosclerosis; Familial hypercholesterolemia; Molecular genetics; Phytosterolemia; Sterols; Tendon xanthoma

PMID:
30459115
DOI:
10.1016/j.jacl.2018.10.005

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