About Familial hypocalciuric hypercalcemia type 1

What is Familial hypocalciuric hypercalcemia type 1?

Familial hypocalciuric hypercalcemia type 1 (FHH1) is an inherited disorder characterized by elevated levels of calcium in the blood (hypercalcemia). People with FHH1 have a mutation in the calcium-sensing receptor (CaSR) gene, which affects the body's ability to regulate calcium levels. People with FHH1 typically have mild or no symptoms, but may be at risk for developing kidney stones or other complications. Treatment typically involves dietary changes and medications to reduce calcium levels.

What are the symptoms of Familial hypocalciuric hypercalcemia type 1?

The symptoms of Familial hypocalciuric hypercalcemia type 1 (FHH type 1) vary from person to person, but 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
-Fatigue
-Weakness
-Nausea
-Vomiting
-Loss of appetite
-Weight loss
-Bone pain
-Depression
-Confusion
-Memory loss
-Headaches
-Muscle cramps
-Constipation
-Increased thirst
-Frequent urination

What are the causes of Familial hypocalciuric hypercalcemia type 1?

Familial hypocalciuric hypercalcemia type 1 (FHH type 1) 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 symptoms such as fatigue, nausea, constipation, and kidney stones.

What are the treatments for Familial hypocalciuric hypercalcemia type 1?

1. Avoiding excessive intake of calcium and vitamin D
2. Avoiding thiazide diuretics
3. Treating underlying conditions that may be causing the hypercalcemia
4. Taking medications to reduce calcium levels, such as bisphosphonates, calcitonin, and denosumab
5. Taking medications to reduce parathyroid hormone levels, such as cinacalcet
6. Taking medications to reduce the production of vitamin D, such as ketoconazole
7. Taking medications to reduce the absorption of calcium, such as sevelamer
8. Taking medications to reduce the activity of the calcium-sensing receptor, such as amiloride

What are the risk factors for Familial hypocalciuric hypercalcemia type 1?

1. Family history of Familial hypocalciuric hypercalcemia type 1
2. Genetic mutation in the calcium-sensing receptor gene
3. Certain medications, such as thiazide diuretics
4. Vitamin D deficiency
5. Certain endocrine disorders, such as hyperparathyroidism
6. Chronic kidney disease
7. Certain cancers, such as lung cancer
8. Certain autoimmune diseases, such as sarcoidosis

Is there a cure/medications for Familial hypocalciuric hypercalcemia type 1?

Yes, there is a cure for Familial hypocalciuric hypercalcemia type 1. 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 physical activity can help to reduce calcium levels.