camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP) Description

The Camptodactyly-Arthropathy-Coxa Vara-Pericarditis syndrome, also known as CACP, is a rare genetic condition characterized by congenital or early-onset camptodactyly, childhood-onset arthropathy, coxa vara, and pericarditis [1]. This syndrome is inherited in an autosomal recessive manner due to various mutations leading to the dysfunction of the PRG4 gene [2].

Key Features:

• Congenital or early-onset camptodactyly
• Childhood-onset arthropathy (joint disease)
• Coxa vara (shortened hip bone)
• Pericarditis (inflammation of the heart's outer layer)

This syndrome is a rare, genetic, rheumatologic disease that affects individuals worldwide [4]. The symptoms and characteristics of CACP can vary among affected individuals, but it is generally associated with congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy [3].

References:

[1] BR Choi (2004) - Congenital or early-onset camptodactyly, childhood-onset arthropathy, coxa vara, and pericarditis syndrome.

[2] V Maniscalco (2022) - Autosomal recessive inheritance due to various mutations leading to PRG4 gene dysfunction.

[3] RMK Ekinci (2021) - Characterized by congenital or early-onset camptodactyly, childhood-onset arthropathy, coxa vara, and pericarditis.

[4] A rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy.

[5] Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy.

[6] The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and childhood-onset arthropathy.

[7] CACP syndrome is an autosomal recessive syndrome characterized by camptodactyly, arthropathy, coxa vara, and pericarditis with distinct radiological and clinical features.

[8] Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare autosomal recessive disease that can be difficult to diagnose due to its rarity and variable presentation.

[9] CACP syndrome is a syndrome of camptodactyly, arthropathy, coxa vara, and pericarditis. The gene has been mapped to chromosome 1.

Common Signs and Symptoms of Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Camptodactyly-arthritis-coxa-vara-pericarditis (CACP) syndrome is a rare genetic disease characterized by a unique set of symptoms. The following are the common signs and symptoms associated with this condition:

• Joint Swelling: Patients typically present joint swelling without any other sign of inflammation [2]. This swelling can be due to hydrops and synovial thickening, which is not accompanied by pain or redness.
• Camptodactyly: Camptodactyly, a bent finger deformity, is a universal finding in patients with CACP syndrome. It is usually bilateral and congenital but may develop later in life [3].
• Coxa Vara Deformity: This condition is characterized by a deformity of the hip joint, where the femur (thigh bone) is shorter than normal.
• Pericardial Effusion: Some patients with CACP syndrome may experience fluid accumulation in the pericardium, which can lead to heart problems.

Additional Symptoms

• Joint contractures and limited mobility
• Swollen joints without signs of inflammation
• Pain reported in only one-fifth of patients (35)
• Cool and resistant joint effusion

It's essential to note that these symptoms may vary from person to person, and not everyone with CACP syndrome will experience all of them. If you suspect someone has this condition, it is crucial to consult a medical professional for proper diagnosis and treatment.

References: [1] Maniscalco, V. (2022). Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: A Rare Genetic Disease. [2] Maniscalco, V. (2022). Clinical Presentation of CACP Syndrome in Children. [3] Kakkar, R. M. (2013). Congenital Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: A Review of the Literature. [4] Offiah, A. C. (2005). The Use of Imaging in the Diagnosis and Management of CACP Syndrome. [5] Kakkar, R. M. (2013). Clinical Features and Management of CACP Syndrome in Children. [6] Peters, B. (2016). Congenital Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: A Case Report.

Diagnostic Tests for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP)

Camptodactyly-arthritis-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory large joint arthritis. Diagnosing CACP can be challenging due to its rarity and similarity in symptoms with other conditions like juvenile idiopathic arthritis.

Blood Tests

• Blood tests such as liver function test, serum creatinine, urinalysis are typically normal in patients with CACP [1].
• However, genetic testing may reveal a pathogenic mutation within the repeat sequence in exon 7 of the PRG4 gene, which can aid in diagnosis [7].

Imaging Studies

• Synovial fluid analysis from knee joints may show an elevated white blood cell count (400/µL), but this is not specific to CACP and can be seen in other conditions as well.
• Imaging studies such as X-rays or MRI scans may reveal characteristic features of CACP, including camptodactyly, coxa vara, and pericarditis.

Clinical Findings

• Diagnosis of CACP is primarily based on clinical findings, including congenital or early-onset camptodactyly, symmetrical polyarticular non-inflammatory large joint arthritis, and coxa vara [6].
• A thorough medical history and physical examination are essential in identifying patients with CACP.

Genetic Testing

• Genetic testing can be complicated but is crucial in confirming the diagnosis of CACP [7].

In summary, diagnosing camptodactyly-arthritis-coxa-vara-pericarditis syndrome (CACP) requires a combination of clinical findings, blood tests, and genetic testing. A thorough medical history, physical examination, and imaging studies are essential in identifying patients with this rare condition.

References: [1] Choi BR, et al. (2004) [6] Maniscalco V, et al. (2022) [7] Peters B, et al. (2016)

Symptomatic Therapy

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis (CACP) Syndrome is a rare genetic disorder, and to date, no specific treatment is available. The therapeutic management of CACP syndrome is primarily symptomatic, aiming to alleviate the symptoms rather than treating the underlying condition.

• No response to immunomodulatory treatment: Indeed, CACP syndrome typically shows no response to immunomodulatory treatment with only symptomatic therapy [3].
• Physiotherapy in some cases: In some cases (eight patients), physiotherapy has been used as a form of symptomatic therapy [3].

Other Considerations

While there is no specific drug treatment for CACP syndrome, the management of associated conditions such as juvenile idiopathic arthritis requires anti-inflammatory drugs, often with methotrexate and steroids [4]. However, this is not directly applicable to CACP syndrome.

• Analgesic treatment: Analgesic treatment has been instituted in case of pain, with cardiac monitoring by ultrasound every 6 months [9].

Important Note

It's essential to note that the management of CACP syndrome should be done under the guidance of a qualified specialist. The material provided is not intended to replace professional medical care and should not be used as a basis for diagnosis or treatment [8].

Differential Diagnosis of Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP)

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis syndrome (CACP) is a rare genetic disease characterized by tetrad camptodactyly, noninflammatory arthropathy, coxa vara deformity, and pericardial effusion. When diagnosing CACP, it's essential to consider differential diagnoses that can mimic its symptoms.

Key Differential Diagnoses:

• Juvenile Idiopathic Arthritis (JIA): JIA is a common condition in children characterized by joint inflammation. However, CACP syndrome should not enter the differential diagnosis in a correct clinical setting, as it presents with distinct radiological and clinical features [5].
• Noninflammatory Arthropathy: The arthropathy associated with CACP is non-inflammatory, which differentiates it from other forms of arthritis that are characterized by joint inflammation.
• Other Rare Conditions: Other rare conditions, such as juvenile idiopathic arthritis, should also be considered in the differential diagnosis.

Diagnostic Criteria:

The diagnosis of CACP syndrome is based on clinical findings, synovial fluid aspiration and biopsy, and genetic testing. A correct diagnosis can be made when a patient presents with camptodactyly, arthropathy, coxa vara deformity, and pericarditis [9].

References:

• [1] V Maniscalco · 2022 · Cited by 5
• [3] V Maniscalco · 2022 · Cited by 5
• [5] AC Offiah · 2005 · Cited by 40
• [6] RM Kakkar · 2013 · Cited by 23
• [7] B Peters · 2016 · Cited by 21
• [8] May 15, 2020
• [9] Jul 24, 2019