About calcium gout, familial

What is calcium gout, familial?

Familial articular chondrocalcinosis is a rare inherited metabolic disorder characterized by deposits of calcium pyrophosphate dihydrate crystals (CPPD) in one or more joint cartilages resulting in eventual damage to the joints. Symptoms may develop due to decreased activity of the enzyme nucleoside triphosphate pyrophosphohydrolase. The symptoms of familial articular chondrocalcinosis mimic those of classical gout and may include swelling, stiffness, and pain, usually in one joint. The knee is most commonly affected. Chondrocalcinosis occurs in a hereditary form (familial articular chondrocalcinosis), a form associated with metabolic disorders and a sporadic form. The hereditary forms are subdivided into chondrocalcinosis-1 (CCAL1) and chondrocalcinosis-2 (CCAL2).

What are the symptoms for calcium gout, familial?

The symptoms of CCAL2 usually begin as acute, recurring attacks of pain, Swelling warmth and Redness in one or more joints. Other affected people have swelling, stiffness, and Pain with little or no inflammation. in the joints A knee, wrist, hip, or shoulder is most frequently affected, although any joint of the body may be involved. Acute episodes can last for days to weeks, and symptoms may subside without treatment. Calcium pyrophosphate (CPP) crystal deposits may accumulate around the bones of the spine (vertebrae) and cause back or Neck Pain and/or loss of mobility. Many patients with CPDD develop chronic Arthritis which can resemble osteoarthritis.

What are the causes for calcium gout, familial?

CCAL2 is caused by presumed gain-of-function mutations in the ANKH gene.

The protein produced by the ANKH gene seems to be involved in cellular transport of inorganic pyrophosphate (PPi), and mutations in ANKH have been shown to have a significant effect on the regulation of PPi levels within the cells (intracellular) and outside the cells (extracellular). When ANKH activity is increased, levels of PPi accumulate in cartilage, complex with calcium, and form calcium pyrophosphate (CPP) crystals.

In most cases, CCAL2 is inherited as an autosomal dominant genetic trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

In some individuals, the disorder is due to a spontaneous (de novo) genetic mutation that occurs in the egg or sperm cell. In such situations, the disorder is not inherited from the parents.

The symptoms of CCAL2 are thought to be more severe in those affected individuals who carry two abnormal genes for this disorder (homozygotes), one from each parent. Those who have only one abnormal gene (heterozygotes) are thought to experience less severe symptoms.

What are the treatments for calcium gout, familial?

Treatment for CCAL2 is symptomatic. There is no way to prevent the formation of calcium pyrophosphate crystals or to satisfactorily remove existing crystals from the joints.

Acute attacks of CCAL2 are treated in several ways. Excess fluid may be drained from the affected joint using a needle and syringe. If only one joint is involved, a corticosteroid drug may be injected directly into the affected joint (intra-articular). For those individuals with frequent, recurring acute attacks, colchicine or oral corticosteroids, such as prednisone, may be effective. These medications are also used to treat gout. Other drugs that are frequently used include nonsteroidal anti-inflammatory drugs (e.g., ibuprofen and naproxen sodium) which are commonly prescribed for many types of arthritic conditions.

When corticosteroids, nonsteroidal anti-inflammatory drugs, and colchicine are ineffective, contraindicated, or not well-tolerated, drugs that inhibit the cytokine interleukin 1 alpha might be helpful. There is some evidence that methotrexate and hydroxychloroquine may also be useful, but the effectiveness of these drugs is not well studied.

During an acute attack of arthritis, the affected joint may require rest. Splints, canes, and other devices that protect and support the joint may be prescribed and may require special fitting. Once the episode subsides, rest should be balanced with appropriate exercise that is carefully monitored by a physician or physical therapist.

In some people with CCAL2, surgery may be necessary to repair a joint that is badly damaged. Surgery may be an effective means for reducing pain and enhancing mobility in some people.

Asymptomatic CCAL2 does not require treatment.

Genetic counseling may be of benefit for affected individuals and their families.

What are the risk factors for calcium gout, familial?

There are many risk factors for calcium gout, familial. If you are at risk of developing this condition, you should be aware of what these factors are so that you can prevent yourself from getting it.

There are several risk factors associated with familial gout, including:

1. Family history: The first thing to know about calcium gout is that it is hereditary. This means that if one of your parents has had it, there is a chance that you will get it as well. If you have been diagnosed with the condition, then it is important to tell your children and grandchildren about it so that they can take steps to prevent themselves from developing it as well.

2. Age: Another risk factor for calcium gout is age. The risk of developing familial gout increases as you get older. As people get older, their bodies become less able to process uric acid properly and this leads to an increased risk of developing gout attacks. For this reason, older people who have not yet developed this condition should make sure that they are eating healthy foods and exercising regularly so that they can reduce their chances of getting calcium gout in the future.

3. Gender: Men are more likely than women to develop familial gout.

4. Weight: People who are overweight or obese have an increased risk of developing familial gout.

5. Diet: People who eat a high-purine diet (which includes organ meats and shellfish) have an increased risk of developing hereditary uric acid kidney stones and/or gout.

Joint pain that's worse at night and in the morning,A burning sensation in your joints,Swelling and redness around your joints,Nausea and vomiting,Headache
Calcium oxalate nephrolithiasis,Pseudogout of the kidney,Stones in the urinary tract,Urolithiasis
Allopurinol,Colchicine,Probenecid,Sulfinpyrazone (Anturane)

Is there a cure/medications for calcium gout, familial?

There is no cure for calcium gout or Familial Hypercalcemia with Vitamin D Excess (FHVD). The only treatment that is currently available is to lower the levels of calcium in the blood by taking medications like bisphosphonates, calcitonin, or teriparatide.

Familial Hypercalcemia with Vitamin D Excess (FHVD) is a rare disorder that causes excess amounts of calcium and phosphorus in the body. This can lead to kidney stones, bone pain, and soft tissue calcification. It is caused by a genetic mutation that affects both copies of one specific gene (PNPLA1).

There are several medications used to treat calcium gout, familial. They include:

1. Colchicine: This drug is an anti-inflammatory agent that works by reducing the inflammation and pain of calcium gout. It can take up to four weeks to start working, but it can be taken on an ongoing basis as long as you don't have any side effects from it. The most common side effect associated with using this medication is diarrhea, which should go away after a few days. If you experience any other side effects, such as nausea or headache, stop taking colchicine and call your doctor immediately.

2. Allopurinol: This drug works by lowering uric acid levels in the blood by acting on xanthine oxidase, an enzyme that helps to break down purines into uric acid. This lowers the number of urate crystals formed during a gout attack and reduces their size as well. You need to take allopurinol long-term in order to keep your urate levels in check and prevent future attacks from happening again later on down the road.

Joint pain that's worse at night and in the morning,A burning sensation in your joints,Swelling and redness around your joints,Nausea and vomiting,Headache
Calcium oxalate nephrolithiasis,Pseudogout of the kidney,Stones in the urinary tract,Urolithiasis
Allopurinol,Colchicine,Probenecid,Sulfinpyrazone (Anturane)

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