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(M11.1) Familial chondrocalcinosis
More details coming soon
151 306 in individuals diagnosis familial chondrocalcinosis confirmed
5 646 deaths with diagnosis familial chondrocalcinosis
4% mortality rate associated with the disease familial chondrocalcinosis
Diagnosis familial chondrocalcinosis is diagnosed Women are 0.44% more likely than Men
75 317
Men receive the diagnosis familial chondrocalcinosis
1 922 (2.6 %)Died from this diagnosis.
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75 989
Women receive the diagnosis familial chondrocalcinosis
3 724 (4.9 %)Died from this diagnosis.
Risk Group for the Disease familial chondrocalcinosis - Men aged 75-79 and Women aged 80-84
In Men diagnosis is most often set at age 20-95+
Less common in men the disease occurs at Age 0-19Less common in women the disease occurs at Age 0-14, 20-29
In Women diagnosis is most often set at age 15-19, 30-95+
Disease Features familial chondrocalcinosis
Absence or low individual and public risk
Familial chondrocalcinosis - what does this mean
Familial chondrocalcinosis is an inherited disorder characterized by the deposition of calcium pyrophosphate crystals in the cartilage and other connective tissues, leading to pain and inflammation in the affected joints. it is caused by a mutation in the ankh gene, which is responsible for the production of the enzyme glycosyltransferase-i, which helps regulate the metabolism of calcium pyrophosphate.
What happens during the disease - familial chondrocalcinosis
Familial chondrocalcinosis is a genetic disorder caused by mutations in the ankh gene, which encodes for a protein that is involved in calcium transport. mutations in this gene result in the accumulation of calcium pyrophosphate dihydrate crystals in the cartilage, leading to inflammation, pain, and swelling of the joints. this can eventually lead to joint erosion and destruction, leading to disability.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- X-ray of affected joints
- MRI scan
- Blood tests to check levels of calcium and other minerals
- Urine tests to check for calcium and other minerals
- Genetic testing to identify mutations in the relevant genes
Treatment and Medical Assistance
Main goal of the treatment: Reduce pain and improve mobility
- Rest and physical therapy
- Non-steroidal anti-inflammatory drugs (NSAIDs)
- Corticosteroids
- Intra-articular injections
- Hyaluronan injections
- Viscosupplementation
- Surgery
17 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Familial chondrocalcinosis - Prevention
Familial chondrocalcinosis can be prevented by avoiding activities that may cause joint injury, maintaining a healthy weight, and following a diet rich in calcium and vitamin d. regular exercise, such as walking, can also help to reduce the risk of developing the condition.