Premature Osteoarthritis as Presenting Sign of Type II Collagenopathy: A Case Report and Literature Review

Husar-Memmer E, Ekici AB, Al Kaissi A, Sticht H, Manger B, Schett G, Zwerina J (2013)

Publication Type: Journal article

Publication year: 2013

Journal

Seminars in Arthritis and Rheumatism WB Saunders

Publisher: WB Saunders

Book Volume: 42

Pages Range: 355-60

Journal Issue: 4

DOI: 10.1016/j.semarthrit.2012.05.002

Abstract

Osteoarthritis (OA) is a frequent, chronic, and often disabling disease. Early-onset OA should prompt rheumatologists to search for underlying causes. We describe the clinical presentation and diagnosis of a patient with severe premature OA.We report a patient with severe polyarticular OA starting in young adulthood due to a heterozygous mutation in the COL2A1 gene. We discuss the clinical features, diagnosis, and known mutations of previously reported cases identified through a PubMed literature review.A 43-year-old Caucasian woman of normal stature presented with a 24-year history of symmetrical polyarticular OA involving both large and small joints. At the time of presentation, the patient already underwent 6 joint replacement surgeries. Family history was unremarkable. Clinical, serologic, radiographic, and histologic studies did not reveal any specific cause for this unusual clinical presentation. Genetic analysis revealed a heterozygous COL2A1 mutation (R519C) consistent with the clinical phenotype. Reviewing the literature, we discuss the clinical spectrum of type II collagenopathies emphasizing premature OA as the sole clinical manifestation.Unusual clinical presentations of OA should prompt investigations to search for an underlying cause. Type II collagenopathy should be considered in young adults with severe symmetrical OA even in the absence of other clinical features. A correct diagnosis allows classification and genetic counseling of the patient.

Authors with CRIS profile

Arif Bülent Ekici Institute of Human Genetics Heinrich Sticht Professur für Bioinformatik Bernhard Manger Professur für Rheumatologie und Klinische Immunologie Georg Schett Lehrstuhl für Innere Medizin III

Involved external institutions

Hanusch-Krankenhaus AT Austria (AT)

How to cite

APA:

Husar-Memmer, E., Ekici, A.B., Al Kaissi, A., Sticht, H., Manger, B., Schett, G., & Zwerina, J. (2013). Premature Osteoarthritis as Presenting Sign of Type II Collagenopathy: A Case Report and Literature Review. Seminars in Arthritis and Rheumatism, 42(4), 355-60. https://doi.org/10.1016/j.semarthrit.2012.05.002

MLA:

Husar-Memmer, Emma, et al. "Premature Osteoarthritis as Presenting Sign of Type II Collagenopathy: A Case Report and Literature Review." Seminars in Arthritis and Rheumatism 42.4 (2013): 355-60.

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