About Familial hypocalciuric hypercalcemia

What is Familial hypocalciuric hypercalcemia?

Familial hypocalciuric hypercalcemia (FHH) 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, which is responsible for regulating calcium levels in the body. People with FHH typically have no symptoms and do not require treatment. However, they may be at an increased risk for developing certain types of kidney stones.

What are the symptoms of Familial hypocalciuric hypercalcemia?

The symptoms of Familial hypocalciuric hypercalcemia (FHH) vary from person to person and may include:

-High levels of calcium in the blood (hypercalcemia)
-Low levels of calcium in the urine (hypocalciuria)
-Abnormal levels of parathyroid hormone (PTH)
-Kidney stones
-Abdominal pain
-Nausea
-Vomiting
-Fatigue
-Weakness
-Depression
-Confusion
-Memory loss
-Muscle cramps
-Bone pain
-Joint pain
-Increased thirst
-Frequent urination
-Constipation
-Weight loss
-Excessive urination at night (nocturia)
-Increased risk of developing certain types of cancer, such as lymphoma

What are the causes of Familial hypocalciuric hypercalcemia?

Familial hypocalciuric hypercalcemia (FHH) is an inherited disorder caused by a mutation in the calcium-sensing receptor (CaSR) gene. This gene is responsible for controlling the amount of calcium in the body. When the gene is mutated, it causes the body to absorb too much calcium from the diet, leading to high levels of calcium in the blood. Other causes of FHH include certain medications, certain endocrine disorders, and certain genetic disorders.

What are the treatments for Familial hypocalciuric hypercalcemia?

1. Avoiding calcium-rich foods and supplements
2. Avoiding vitamin D supplements
3. Taking thiazide diuretics to reduce calcium levels in the urine
4. Taking bisphosphonates to reduce bone resorption
5. Taking calcitonin to reduce calcium levels in the blood
6. Taking cinacalcet to reduce parathyroid hormone levels
7. Taking corticosteroids to reduce calcium levels in the blood
8. Taking denosumab to reduce bone resorption
9. Taking estrogen to reduce calcium levels in the blood
10. Taking phosphate binders to reduce calcium levels in the blood

What are the risk factors for Familial hypocalciuric hypercalcemia?

1. Family history of Familial hypocalciuric hypercalcemia (FHH)
2. Genetic mutations in the calcium-sensing receptor (CaSR) gene
3. Low urinary calcium excretion
4. High serum calcium levels
5. Low parathyroid hormone levels
6. Low vitamin D levels
7. Low dietary calcium intake
8. Certain medications, such as thiazide diuretics, lithium, and calcitonin

Is there a cure/medications for Familial hypocalciuric hypercalcemia?

Yes, there is a cure for Familial hypocalciuric hypercalcemia. The most common treatment is to take a medication called cinacalcet, which helps to reduce the amount of calcium in the blood. Other medications, such as calcitonin, may also be prescribed to help reduce calcium levels. Additionally, lifestyle changes such as reducing salt intake and increasing calcium-rich foods can help to reduce calcium levels.