Hypercalcemia, familial benign type 1

Hypercalcemia, Familial Benign Type 1 is a rare, inherited disorder characterized by mildly elevated levels of calcium in the blood, a condition known as hypercalcemia. This condition is considered benign because it typically results in few, if any, symptoms and generally does not lead to the serious health problems commonly associated with more severe forms of hypercalcemia. Familial benign hypercalcemia is often discovered incidentally during routine blood tests. It is important to differentiate this condition from other forms of hypercalcemia, which can be indicative of more serious underlying health issues such as hyperparathyroidism, cancer, or vitamin D toxicity.

Causes

Familial benign hypercalcemia, Type 1, is caused by mutations in the CACNA1C gene, which encodes the alpha-1C subunit of the L-type calcium channel. These mutations lead to an increased sensitivity of the calcium-sensing receptor (CaSR) in the parathyroid gland and the kidneys, resulting in the body retaining higher levels of calcium than normal.

Genetics

This condition is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder. An individual with familial benign hypercalcemia has a 50% chance of passing the mutation on to each of their children.

Symptoms

Most individuals with familial benign hypercalcemia, Type 1, do not exhibit symptoms. When symptoms do occur, they are usually mild and can include fatigue, muscle weakness, excessive thirst (polydipsia), and frequent urination (polyuria). These symptoms are a result of the elevated calcium levels in the blood.

Diagnosis

Diagnosis of familial benign hypercalcemia is based on blood tests showing mildly elevated levels of calcium in the absence of other causes of hypercalcemia. Genetic testing can confirm the diagnosis by identifying a mutation in the CACNA1C gene.

Treatment

Treatment for familial benign hypercalcemia, Type 1, is typically not necessary due to the mild nature of the condition. However, individuals should be monitored for changes in calcium levels and potential development of symptoms. In some cases, staying hydrated and avoiding supplements containing calcium or vitamin D may be recommended.

Prognosis

The prognosis for individuals with familial benign hypercalcemia, Type 1, is generally excellent. The condition usually does not progress or lead to serious health complications. Regular monitoring of calcium levels can help manage the condition effectively.

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