What are the other Names for this Condition? (Also known as/Synonyms)

• CACP Syndrome
• Familial Fibrosing Serositis
• Pericarditis-Arthropathy-Camptodactyly Syndrome

What is Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome? (Definition/Background Information)

• Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP Syndrome) is a rare condition which causes joint abnormalities that begin at birth or during early childhood
• The name comes from the main symptoms, including permanent bending of the fingers (camptodactyly), joint disease (arthropathy), and changes in the hip joint resulting in shortened legs and a possible limp (coxa vara)
• Some people with CACP also have too many cells between their joints (synovial hyperplasia) and too much fluid around the heart (pericardial effusion) or lungs (pleural effusion)
• Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome is caused by a mutation in the PRG4 gene. This gene is responsible for making a protein that lubricates the joints. The condition is inherited in an autosomal recessive manner
• CACP may be at first confused with juvenile idiopathic arthritis because the two diseases have similar symptoms
• Diagnosis is based on clinical findings (symptoms which the doctor notices on a physical exma) and a biopsy of the fluid between the joints (synovial fluid). Genetic testing can confirm the diagnosis
• Treatment options such as physical therapy and pain medication focus on relieving symptoms of the disease
• The medication for juvenile idiopathic arthritis is not helpful for those with CACP

(Source: Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome? (Age and Sex Distribution)

• Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome? (Etiology)

Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome is caused by a change (mutation) in the PRG4 gene.

• This gene provides the instructions for making lubricin, a protein (part of synovial fluid) that lubricates the joints
• In other words, lubricin works like oil in a hinge and is needed so the joints can bend easily without a lot of force or causing damage to the bones.  Lubricin also works as an lubricant between the two layers of the thin sac which surrounds the heart (pericardium)
• The pericardium holds the heart in place and helps it work properly
• In addition lubricin keeps the thin coverings of tendons (tendon sheaths) from sticking to the thin fibrous coverings (sheaths) of muscles and organs as well as controls cell growth of special cells (synovial fibroblasts) which are part of the thin covering (synovial membrane) surrounding the synovial fluid within joints
• The condition is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the PRG4 gene in each cell

(Source: Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome?

The signs and symptoms of Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome may include:

• Arthritis
• Arthropathy
• Congenital finger flexion contractures
• Constrictive pericarditis
• Coxa vara
• Flattened metacarpal heads
• Flattened metatarsal heads
• Generalized morning stiffness
• Synovial hypertrophy
• Wrist flexion contracture

(Source: Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome Diagnosed?

• Diagnosis of Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome is based on clinical findings (symptoms which the doctor notices on a physical exma) and a biopsy of the fluid between the joints (synovial fluid)
• Genetic testing can confirm the diagnosis

(Source: Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome?

The complications of Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome may include:

• Immobility, difficulty in walking
• Heart and lung abnormalities

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome Treated?

• At present there is no cure or specific treatment for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP Syndrome)
• Treatment options such as physical therapy and pain medication focus on relieving the symptoms of the disease. Hip joint replacement surgery may also be an option
• The medication for juvenile idiopathic arthritis is not helpful for those with CACP Syndrome

(Source: Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome be Prevented?

Currently, Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome? (Outcomes/Resolutions)

• The prognosis of Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome:

Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome is also known by the following names:

• Congenital Familial Hypertrophic Synovitis
• Jacobs Syndrome
• PAC Syndrome

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/