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At a glance

The Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome is a rare genetic disorder usually present at birth or surely noticed within the first year of life. Arthropathy typically develops between 3 and 8 years of age and is resistant to anti-inflammatory medications. The arthropathy principally involves large joints such as elbows, hips, knees, and ankles. Coxa vara occurs in 50 to 90% of cases. A noninflammatory constrictive pericarditis (30%) may be present in the first or second decade of life and may lead to pericardial effusion.

Synonyms

Arthropathy-Camptodactyly Syndrome; Congenital Familial Hypertrophic Synovitis; Familial Fibrosing Serositis; Pericarditis-Arthropathy-Camptodactyly Coxa-Vara Syndrome.

History

This condition was first described in 1986. A variant has been suggested in 1999 in which congenital cataracts may be present at birth.

Genetic inheritance

Autosomal recessive; locus resides on chromosome 1q25-q31.

Pathophysiology

Synovial cell hyperplasia, fibrosis of pericardium.

Diagnosis

Histologic examination of synovium shows prominent fibrosis and cell infiltration. Radiologic evidence of flattened metacarpal and metatarsal heads as well as flattened proximal ossification centers are pathognomonic of this medical condition. Normal erythrocyte sedimentation rate (ESR) is present.

Clinical aspects

Childhood-onset noninflammatory arthritis. Congenital finger flexion contractures are characteristic of this medical condition. Constrictive pericarditis and pleuritis may occur especially when associated with severe effusion. It may lead to organ function restriction. Sedimentation rate is normal. Elbow and wrist contractures may be associated.

Precautions before anesthesia

Assess temporomandibular involvement (if any), neck movements, and mouth opening with the anticipation of unexpected difficult airway management. It is essential to evaluate the presence of pericardial and pleural effusion with chest radiography, echocardiography, ECG.

Anesthetic considerations

Arthritis usually affects the large joints and hands, and contractures may be present. It could be affecting patient during positioning. Pericardial and/or pleural effusion may be present. If so, the anesthetic must be tailored to avoid affecting preload and heart rate.

Pharmacological implications

Intraoperative supplementation of corticosteroids must be considered in patients receiving chronic therapy.

References

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Bulutlar  G, Yazici  H, Ozdogan  H, Schreuder  I. A familial syndrome of pericarditis, arthritis, camptodactyly and coxa vara. Arthritis Rheum 29:436–438, 1986.  [PubMed: 3964320]
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Kakkar  RM, Soneji  S, Badhe  RR, Desai  SB. Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: Important differential for juvenile idiopathic arthritis. J Clin Imaging Sci 3:24, 2013.  [PubMed: 24083061]
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Verma  UN, Misra  R, Radhakrisnan  S,  et al: A syndrome of fibrosing pleuritis, pericarditis and synovitis with infantile contractures of fingers and toes in 2 sisters: “Familial fibrosing serositis.” J Rheum 22:2349, 1995.  [PubMed: 8835575]

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