Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review.
OBJECTIVE
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Ludwig Boltzmann Institute of Osteology, 1st Medical Department and AUVA Trauma Center Meidling, Hanusch Hospital, Vienna, Austria.
Emma
E
Husar-Memmer
Arif
A
Ekici
Ali
A
Al Kaissi
Heinrich
H
Sticht
Bernhard
B
Manger
Georg
G
Schett
Jochen
J
Zwerina
D000328:Adult; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D010003:Osteoarthritis / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography
C499177:COL2A1 protein, human; D024043:Collagen Type II