Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome (FHTTC/HHO) is a rare genetic disorder characterized by the accumulation of calcium phosphate deposits in the soft tissues of the body. These deposits can cause pain, swelling, and stiffness in the affected areas. The disorder is caused by mutations in the SLC34A3 gene, which is responsible for the production of a protein involved in phosphate transport. Symptoms of FHTTC/HHO can vary from person to person, but may include bone and joint pain, muscle weakness, fatigue, and difficulty walking. Treatment typically involves medications to reduce phosphate levels in the body, as well as physical therapy and lifestyle modifications.

The main symptom of Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome is the presence of multiple, painful, hard, and sometimes mobile lumps of calcium deposits (calcifications) in the soft tissues of the body, such as the skin, muscles, tendons, and ligaments. Other symptoms may include:

-Pain and Stiffness in the joints
-Muscle weakness
-Fatigue
-Weight loss
-Abnormal blood calcium levels
-Abnormal blood phosphorus levels
-High levels of alkaline phosphatase in the blood
-Abnormalities in the bones, such as thickening of the cortex and increased density of the trabeculae
-Enlargement of the long bones
-Abnormalities in the teeth, such as discoloration

The exact cause of Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome is unknown. However, it is believed to be caused by a genetic mutation that affects the regulation of phosphate levels in the body. This mutation is thought to cause an increase in the production of a hormone called fibroblast growth factor 23 (FGF23), which in turn leads to an increase in phosphate levels in the blood. Other possible causes include mutations in the genes that regulate phosphate metabolism, as well as environmental factors such as diet and lifestyle.

Treatment for Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome typically involves a combination of medications, lifestyle changes, and dietary modifications.

Medications:

- Bisphosphonates: These drugs help reduce the amount of calcium and phosphate in the blood, and can help reduce the size of the calcium deposits.

- Calcimimetics: These drugs help reduce the amount of calcium and phosphate in the blood, and can help reduce the size of the calcium deposits.

- Vitamin D: Vitamin D helps the body absorb calcium and can help reduce the size of the calcium deposits.

- Phosphate binders: These drugs help reduce the amount of phosphate in the blood, and can help reduce the size of the calcium deposits.

Lifestyle changes:

1. Autosomal dominant inheritance
2. Mutations in the FGF23 gene
3. Mutations in the GALNT3 gene
4. Mutations in the SLC34A3 gene
5. Mutations in the SLC20A2 gene
6. Mutations in the SLC3A1 gene
7. Mutations in the SLC9A3 gene
8. Mutations in the SLC17A3 gene
9. Mutations in the SLC19A3 gene
10. Mutations in the SLC25A13 gene
11. Mutations in the SLC39A14 gene
12. Mutations in the SLC45A3 gene
13. Mutations in the SLC16A1 gene
14. Mutations in the SLC16A2 gene

At this time, there is no known cure for Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome. However, there are medications that can be used to help manage the symptoms. These include phosphate binders, calcimimetics, and bisphosphonates. Additionally, lifestyle modifications such as dietary changes and increased physical activity may help to reduce symptoms.