About Familial normophosphatemic tumoral calcinosis

What is Familial normophosphatemic tumoral calcinosis?

Familial normophosphatemic tumoral calcinosis (FTC) is a rare inherited disorder characterized by the formation of calcium deposits in the skin and other organs. It is caused by mutations in the GALNT3 gene, which is responsible for the production of an enzyme involved in the metabolism of carbohydrates. Symptoms of FTC include calcium deposits in the skin, joints, and other organs, as well as pain, swelling, and stiffness in the affected areas. Treatment typically involves medications to reduce inflammation and pain, as well as surgery to remove the calcium deposits.

What are the symptoms of Familial normophosphatemic tumoral calcinosis?

The most common symptoms of Familial normophosphatemic tumoral calcinosis include:

-Painful, hard lumps (calcinosis) under the skin, usually on the arms, legs, and trunk
-Joint Stiffness and pain
-Muscle weakness
-Fatigue
-Fever
-Weight loss
-Abnormal blood calcium levels
-Abnormal blood phosphorus levels
-Abnormal liver function tests
-Abnormal kidney function tests

What are the causes of Familial normophosphatemic tumoral calcinosis?

The exact cause of familial normophosphatemic tumoral calcinosis is unknown. However, it is believed to be caused by a genetic mutation that affects the body's ability to regulate calcium levels. This mutation is thought to be inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for a person to be affected by the condition.

What are the treatments for Familial normophosphatemic tumoral calcinosis?

1. Surgery: Surgery is the most common treatment for familial normophosphatemic tumoral calcinosis. This involves removing the calcified deposits from the affected areas.

2. Medications: Medications such as bisphosphonates, calcitonin, and corticosteroids may be prescribed to reduce the size of the calcified deposits and reduce pain.

3. Physical Therapy: Physical therapy may be recommended to help improve range of motion and reduce pain.

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

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

What are the risk factors for Familial normophosphatemic tumoral calcinosis?

1. Genetic predisposition: Familial normophosphatemic tumoral calcinosis is an inherited disorder caused by mutations in the GALNT3 gene.

2. Age: The disorder is more common in children and young adults.

3. Gender: Females are more likely to be affected than males.

4. Ethnicity: Familial normophosphatemic tumoral calcinosis is more common in individuals of African descent.

5. Certain medications: Certain medications, such as lithium, can increase the risk of developing familial normophosphatemic tumoral calcinosis.

Is there a cure/medications for Familial normophosphatemic tumoral calcinosis?

There is no known cure for familial normophosphatemic tumoral calcinosis. Treatment typically involves medications to reduce the amount of calcium in the blood, such as bisphosphonates, calcitonin, and phosphate binders. Other treatments may include surgery to remove the calcium deposits, and physical therapy to help manage pain and improve mobility.