About Familial tumoral calcinosis

What is Familial tumoral calcinosis?

Familial tumoral calcinosis is a rare genetic disorder characterized by the formation of calcium deposits in the skin and other tissues. These deposits can cause pain, swelling, and other symptoms. The exact cause of familial tumoral calcinosis is unknown, but it is believed to be caused by a mutation in the gene that controls calcium metabolism. Treatment typically involves medications to reduce calcium levels and surgery to remove the deposits.

What are the symptoms of Familial tumoral calcinosis?

The most common symptoms of familial tumoral calcinosis include:

-Painful, hard lumps under the skin
-Swelling of the affected area
-Redness and warmth of the affected area
-Stiffness and decreased range of motion in the affected joint
-Fatigue
-Fever
-Weight loss
-Muscle weakness
-Joint Pain and stiffness
-Abnormal calcium deposits in the skin, tendons, and ligaments

What are the causes of Familial tumoral calcinosis?

Familial tumoral calcinosis is a rare genetic disorder caused by mutations in the SLC34A2 gene. This gene is responsible for producing a protein called sodium-phosphate cotransporter 2A (NaPi-2a). Mutations in this gene cause the body to produce too much of this protein, which leads to the buildup of calcium phosphate crystals in the soft tissues of the body. This can cause pain, swelling, and calcification of the affected areas. Other causes of Familial tumoral calcinosis include mutations in the SLC34A3 gene, which is responsible for producing a similar protein called sodium-phosphate cotransporter 3A (NaPi-3a).

What are the treatments for Familial tumoral calcinosis?

1. Surgery: Surgery is the most common treatment for familial tumoral calcinosis. It involves removing the calcium deposits from the affected areas.

2. Medications: Non-steroidal anti-inflammatory drugs (NSAIDs) may be prescribed to reduce inflammation and pain. Corticosteroids may also be prescribed to reduce inflammation.

3. Physical Therapy: Physical therapy can help to improve range of motion and strength in the affected areas.

4. Dietary Changes: Dietary changes may be recommended to reduce the amount of calcium in the diet.

5. Vitamin D Supplements: Vitamin D supplements may be recommended to help the body absorb calcium more efficiently.

6. Calcium Channel Blockers: Calcium channel blockers may be prescribed to reduce the amount of calcium in the blood.

7. Bisphosphonates

What are the risk factors for Familial tumoral calcinosis?

1. Autosomal dominant inheritance
2. Mutations in the GALNT3 gene
3. Age of onset typically between 5 and 15 years
4. Female predominance
5. Presence of multiple, painful, subcutaneous nodules
6. Presence of calcium deposits in the skin, joints, and other organs
7. Elevated levels of calcium and phosphate in the blood
8. Elevated levels of parathyroid hormone in the blood
9. Presence of renal calculi
10. Presence of renal insufficiency

Is there a cure/medications for Familial tumoral calcinosis?

There is no known cure for familial tumoral calcinosis. Treatment typically involves medications to reduce calcium levels in the blood, such as bisphosphonates, calcitonin, and phosphate binders. Other treatments may include physical therapy, dietary changes, and surgery to remove the calcium deposits.