040 68334455
WhatsApp
Patient Portal
Home Care
Familial Benign Hypercalcemia - Symptoms, Reasons And Treatment
Familial benign hypercalcemia is a genetic disorder that affects how the body regulates calcium levels. This condition can lead to higher-than-normal levels of calcium in the blood, which may cause various health issues. The underlying cause of familial benign hypercalcemia lies in specific gene mutations that disrupt the normal balance of calcium in the body.
Understanding the genetic component of this condition is crucial for proper management and treatment. By working closely with healthcare providers, individuals with familial benign hypercalcemia can take steps to monitor and control their calcium levels to maintain overall health and well-being.
What Are the Symptoms of Familial Benign Hypercalcemia
Familial benign hypercalcemia may cause symptoms like frequent urination, fatigue, weakness, and stomach pain. Some people may also experience mood changes, bone pain, and kidney stones. If you have a family history of this condition and notice these symptoms, it's essential to consult with a healthcare provider for proper evaluation and management.
- Feeling unusually tired or fatigued, even after getting enough rest, can be a symptom of familial benign hypercalcemia.
- Experiencing frequent episodes of nausea, vomiting, or stomach pain may indicate familial benign hypercalcemia.
- Having persistent headaches that do not go away with typical remedies could be a sign of familial benign hypercalcemia.
- Feeling more thirsty than usual and urinating more frequently might be symptoms of familial benign hypercalcemia.
- Developing bone pain, muscle weakness, or unexplained fractures could be related to familial benign hypercalcemia.
Get a second opinion from trusted experts and makeconfident, informed decisions.
Get Second OpinionCauses of Familial Benign Hypercalcemia
These mutations lead to an overactive response to calcium in the blood, resulting in elevated levels of calcium. This condition is usually inherited in an autosomal dominant pattern, meaning it can be passed down from one affected parent.
- Familial benign hypercalcemia can be caused by mutations in the calcium-sensing receptor (CASR) gene, leading to abnormal regulation of calcium levels in the body.
- In some cases, Familial benign hypercalcemia may be attributed to abnormalities in genes involved in the parathyroid hormone (PTH) pathway, disrupting the balance of calcium in the blood.
- Certain genetic variations affecting the vitamin D receptor (VDR) gene can also contribute to the development of Familial benign hypercalcemia by impacting the body's ability to absorb and regulate calcium.
- Familial benign hypercalcemia may arise due to hereditary factors, where a family history of the condition increases the likelihood of developing hypercalcemia
Types of Familial Benign Hypercalcemia
Familial benign hypercalcemia can be classified into two types: Type 1 and Type 2. Type 1 is usually seen in children and is caused by mutations in the CASR gene. Type 2, on the other hand, typically occurs in adults and is associated with mutations in the GNA11 gene. Both types result in elevated levels of calcium in the blood, but they have different genetic causes and age of onset.
- Familial Hypocalciuric Hypercalcemia (FHH): This is a rare genetic disorder characterized by high levels of calcium in the blood and low levels of calcium excreted in the urine, leading to a milder form of hypercalcemia that is usually asymptomatic.
- Neonatal Severe Hyperparathyroidism: This type of familial benign hypercalcemia occurs in newborns and infants due to an overactive parathyroid gland, leading to dangerously high levels of calcium in the blood that can result in severe symptoms such as vomiting, dehydration, and failure to thrive.
- Autosomal Dominant Hypocalcemia (ADH): ADH is a familial disorder caused by mutations in the calcium-s
Risk Factors
Familial benign hypercalcemia risk factors include a family history of the condition or other related disorders. Mutations in the CASR gene can also predispose individuals to developing this condition. Additionally, certain medications and underlying medical conditions may increase the likelihood of developing familial benign hypercalcemia. Early detection and management are crucial for individuals with these risk factors.
- Family history of hypercalcemia increases the risk of developing Familial benign hypercalcemia.
- Certain genetic mutations, such as in the CASR gene, can predispose individuals to Familial benign hypercalcemia.
- Individuals with a history of kidney stones may have a higher risk of Familial benign hypercalcemia.
- Long-term use of certain medications, such as thiazide diuretics, can be a risk factor for developing Familial benign hypercalcemia.
- Having other medical conditions, like hyperparathyroidism or adrenal gland disorders, can also increase the risk of Familial benign hypercalcemia.
Your health is everything - prioritize your well-being today.
Schedule Your Appointment
Diagnosis of Familial Benign Hypercalcemia
Familial benign hypercalcemia is diagnosed through blood tests that measure levels of calcium, parathyroid hormone, and vitamin D. Genetic testing may be done to identify specific gene mutations. Your doctor will also assess your symptoms and family history to determine if you have inherited this condition. Regular monitoring and follow-up visits are important for managing Familial benign hypercalcemia.
- Blood tests: Diagnostic blood tests can measure levels of calcium, parathyroid hormone (PTH), and other relevant markers to help identify Familial Benign Hypercalcemia (FBH).
- Genetic testing: DNA analysis can identify specific gene mutations associated with FBH, such as mutations in the CASR gene, providing a definitive diagnosis.
- Urine tests: Urine tests can help assess the levels of calcium and other substances excreted in the urine, aiding in the diagnosis of FBH.
- Imaging studies: X-rays, CT scans, or bone density scans can help evaluate bone health and detect any abnormalities in the bones caused by hypercalcemia in FBH.
Treatment for Familial Benign Hypercalcemia
Treatment for Familial benign hypercalcemia focuses on managing calcium levels through medications like diuretics and bisphosphonates. You may need to limit calcium and vitamin D intake from your diet. Regular monitoring and follow-ups with your healthcare provider are essential to ensure your condition is properly managed. Lifestyle changes such as staying hydrated and avoiding excessive sun exposure can also help control your calcium levels.
- Monitoring calcium levels regularly is crucial in managing Familial benign hypercalcemia to ensure that levels remain within a safe range and to detect any potential complications early on.
- In cases where calcium levels are significantly elevated, medications such as diuretics may be prescribed to help the kidneys excrete excess calcium from the body and reduce overall levels.
- Dietary modifications, such as reducing intake of calcium-rich foods and increasing fluid intake, can also be beneficial in managing Familial benign hypercalcemia and preventing further elevations in calcium levels.
- In severe cases or when other treatment options are not effective, surgical removal of the parathyroid glands may be considered to help regulate calcium levels in the body.
Still have questions? Speak with our experts now!
040-68334455Frequently Asked Questions
How do I recognize the signs of Familial benign hypercalcemia?
Signs of Familial benign hypercalcemia include excessive thirst, frequent urination, abdominal pain, fatigue, and kidney stones. Testing is needed for diagnosis.
How should I care for myself with Familial benign hypercalcemia—what should I do and avoid?
Stay hydrated, monitor calcium levels, and follow up with your doctor regularly. Avoid excessive calcium intake and high doses of vitamin D supplements.
What are the potential complications of Familial benign hypercalcemia?
Complications of Familial benign hypercalcemia can include kidney stones, bone pain, osteoporosis, and in severe cases, kidney damage.
What treatment options are available for Familial benign hypercalcemia?
Treatment for Familial benign hypercalcemia includes hydration, avoiding excessive calcium intake, and medications to lower calcium levels if necessary.
Can Familial benign hypercalcemia return even after successful treatment?
Yes, Familial benign hypercalcemia can reoccur after successful treatment due to genetic factors causing abnormal regulation of calcium levels in the body.
Feeling unwell?
Request a callback!
