Calcium pyrophosphate dihydrate deposition disease

Other Names

CCAL2; Chondrocalcinosis familial articular; Familial articular chondrocalcinosis.

Clinical features

Chondrocalcinosis 2 is a rare disease characterized by the accumulation of calcium pyrophosphate dihydrate (CPP) crystals in and around the joints. A buildup of these crystals can lead to joint pain and damage that is progressive (worsens over time).

Symptoms

Some people with chondrocalcinosis 2 may not have any symptoms of the disease other than showing calcium deposits in and around joints on . Others may experience symptoms such as joint pain and swelling and difficulty moving the joints. These symptoms can be similar to the symptoms of or gout, and they may be described as “pseudoarthritis” or “pseudogout.”

The symptoms can be chronic (occurring all the time) or may occur in sudden episodes. If the pain occurs in episodes, it can last anywhere from several hours to several weeks. In some cases, episodes of pain may cause fevers. The attack may affect only one joint or multiple joints. Joints that are most commonly affected include the knees, wrists, hips, or shoulders. Some people with chondrocalcinosis 2 may experience pain in the back if calcium deposits develop around the bones of the spine.

Cause

Chondrocalcinosis 2 is caused by changes in the ANKH . When a genetic change causes a disease, it is also known as a pathogenic variation. The ANKH gene provides instructions to make a  that may interact with or regulate other proteins involved in the controlling the formation of calcium pyrophosphate (CPP) mineralization. Mineralization is the process by which calcium and phosphorus form crystals to become part of the bone structure. Although the exact function of the ANKH protein is not known, it is known that the pathogenic variation in the ANKH gene allows too many CPP crystals to build up in the cartilage of joints. The buildup of crystals weakens the cartilage and causes it to break down more easily, leading to the joint pain and other symptoms associated with chondrocalcinosis 2.

Inheritance

Chondrocalcinosis 2 is  in an  manner.[4] This means that people with chondrocalcinosis 2 have a disease-causing change (pathogenic variation) in only one copy of the ANKH  in each  of the body. Most genes, including the ANKH gene, come in pairs, and a person inherits one copy of each gene from their mother and the other from their father.

When a person with chondrocalcinosis 2 has children, each child has a:

50% chance to inherit the changed copy of ANKH, meaning they may develop chondrocalcinosis 2

50% chance to inherit the working copy of ANKH, meaning they will not develop chondrocalcinosis 2

In some cases, a person with chondrocalcinosis 2 inherits the disease from an affected parent. In other cases, the pathogenic variation that causes the disease is new () in the affected person, and there is no history of the disease in the family.  However, a person with a new pathogenic variation in the ANKH gene has a 50% chance of passing this disease-causing change on to each of his or her children.

Diagnosis

A diagnosis of chondrocalcinosis 2 is often suspected based on signs and symptoms of the disease, as well as the age the symptoms begin. Doctors may wish to take a thorough personal and  to evaluate for other possible causes of chondrocalcinosis and to determine if there are other family members who may be affected. Specialized testing, such as analysis of the fluid in the joints (synovial fluid), can confirm the diagnosis.  or other  techniques may also be used to identify calcium deposits in the cartilage of joints.

If a doctor suspects that a person has chondrocalcinosis caused by a change (pathogenic variation) in the ANKH ,  may be ordered to confirm the diagnosis and identify other family members who may have the same pathogenic variation.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment

There is currently no cure for chondrocalcinosis 2. However, therapies are available to manage the signs and symptoms of the disease. During episodes of joint pain, stiffness, or swelling, the following treatments may be recommended to relieve symptoms:

Joint aspiration (draining of fluid from the affected joint) injections

Non-steroidal anti-inflammatory drugs (NSAIDs), including aspirin or ibuprofen

For people who have frequent episodes of pain or for whom other medications are not effective, small doses of a medication called colchicine may be recommended. However, this medication has side effects and may not help everyone with chondrocalcinosis 2.

In some cases, people with chondrocalcinosis 2 may be required to wear a splint or brace to prevent too much movement. In other cases,  may be recommended for safe movement of the affected joint.

Prognosis

For some people with chondrocalcinosis 2, medications and other therapies work well to treat signs and symptoms of the disease. For others, the buildup of calcium pyrophosphate dehydrate (CPP) crystals is severe and can cause pain that is not relieved with treatment. At this time there is, unfortunately, no way to prevent or remove the buildup of CPP crystals in the joints. In some cases, the pain associated with chondrocalcinosis 2 can be severe and very disabling.

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Rheumatologic diseases

Arthritis is often used to refer to any disorder that affects the joints. Rheumatic diseases usually affect joints, tendons, ligaments, bones, and muscles. Rheumatologic diseases usually affect joints, tendons, ligaments, bones, and muscles.

Connective Tissue Diseases

Rheumatology and	Connective Tissue Diseases
Ankylosing spondylitis	Arthritis
Arthritis and Rheumatic diseases	Autoimmune diseases
Autoinflammatory diseases	Behçet’s disease
Bursitis	Giant cell arteritis
Gout	Juvenile arthritis
Knee problems	Lupus
Osteoarthritis	Polymyalgia rheumatica
Psoriatic arthritis	Reactive arthritis
Rheumatoid arthritis	Scleroderma
Sjögren’s syndrome	Systemic lupus erythematosus (Lupus)
Tendinitis	Rheumatologic diseases