About Familial hypocalciuric hypercalcemia type 3

What is Familial hypocalciuric hypercalcemia type 3?

Familial hypocalciuric hypercalcemia type 3 (FHH3) is an inherited disorder characterized by elevated levels of calcium in the blood (hypercalcemia) and low levels of calcium in the urine (hypocalciuria). It is caused by a mutation in the calcium-sensing receptor gene (CASR). People with FHH3 typically have no symptoms and do not require treatment.

What are the symptoms of Familial hypocalciuric hypercalcemia type 3?

The symptoms of Familial hypocalciuric hypercalcemia type 3 (FHH3) vary from person to person. Common symptoms include:

-High levels of calcium in the blood
-Low levels of calcium in the urine
-Abnormal levels of parathyroid hormone
-Kidney stones
-Abdominal pain
-Fatigue
-Weakness
-Nausea
-Vomiting
-Loss of appetite
-Weight loss
-Bone pain
-Muscle cramps
-Depression
-Confusion
-Memory loss
-Headaches
-Dizziness
-Constipation
-Excessive thirst
-Excessive urination

What are the causes of Familial hypocalciuric hypercalcemia type 3?

Familial hypocalciuric hypercalcemia type 3 (FHH3) is caused by a mutation in the calcium-sensing receptor (CaSR) gene. This gene is responsible for controlling the amount of calcium in the body. The mutation causes the receptor to be overly sensitive to calcium, resulting in higher than normal levels of calcium in the blood. This can lead to a variety of symptoms, including fatigue, muscle weakness, and kidney stones.

What are the treatments for Familial hypocalciuric hypercalcemia type 3?

1. Avoiding calcium-rich foods and supplements
2. Avoiding vitamin D supplements
3. Taking medications to reduce calcium levels in the blood, such as diuretics, calcitonin, and bisphosphonates
4. Taking medications to reduce the amount of calcium absorbed from the intestine, such as thiazide diuretics
5. Taking medications to reduce the amount of parathyroid hormone in the body, such as cinacalcet
6. Taking medications to reduce the activity of the parathyroid glands, such as lithium
7. Surgery to remove the parathyroid glands (parathyroidectomy)

What are the risk factors for Familial hypocalciuric hypercalcemia type 3?

1. Genetic mutation in the CASR gene
2. Family history of Familial hypocalciuric hypercalcemia type 3
3. Age (most commonly diagnosed in children and young adults)
4. Gender (more common in males)
5. Certain medications (such as thiazide diuretics)
6. Certain medical conditions (such as hyperparathyroidism)
7. Vitamin D deficiency

Is there a cure/medications for Familial hypocalciuric hypercalcemia type 3?

Yes, there is a cure for Familial hypocalciuric hypercalcemia type 3. The treatment for this condition is to reduce the amount of calcium in the diet and to take medications that block the action of the calcium-sensing receptor. These medications include cinacalcet, calcimimetics, and bisphosphonates. Additionally, vitamin D supplements may be prescribed to help the body absorb calcium.