Familial Hypocalciuric Hypercalcemia 1
Disease Details
Family Health Simplified
- Description
- Familial hypocalciuric hypercalcemia 1 (FHH1) is a genetic disorder characterized by lifelong elevated calcium levels in the blood and low calcium excretion in the urine, typically without symptoms.
- Type
- Familial hypocalciuric hypercalcemia type 1 (FHH1) is inherited in an autosomal dominant manner.
- Signs And Symptoms
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Familial hypocalciuric hypercalcemia type 1 (FHH1) is a genetic condition characterized by the following signs and symptoms:
**Signs and Symptoms:**
- Mild to moderate hypercalcemia (elevated calcium levels in the blood)
- Hypocalciuria (low levels of calcium in the urine)
- Normal or slightly elevated levels of parathyroid hormone (PTH)
- Typically, patients are asymptomatic or mildly symptomatic
- In some cases, may experience fatigue, muscle weakness, or lethargy
The condition is often benign and does not usually require treatment. It's important to distinguish it from primary hyperparathyroidism, as the management for these conditions differs. - Prognosis
- Familial Hypocalciuric Hypercalcemia 1 (FHH1) is generally considered a benign condition with a good prognosis. It typically does not lead to significant complications or severe clinical symptoms. Most individuals with FHH1 do not require treatment and can lead normal, healthy lives. However, monitoring calcium levels might be recommended to manage any potential issues.
- Onset
- Familial hypocalciuric hypercalcemia type 1 (FHH1) typically manifests from birth or early childhood. The condition is generally asymptomatic, often discovered incidentally during blood tests revealing elevated calcium levels.
- Prevalence
- Familial hypocalciuric hypercalcemia type 1 (FHH1) is a rare genetic disorder. The exact prevalence is not well established, but it is believed to affect approximately 1 in 78,000 people.
- Epidemiology
- Familial hypocalciuric hypercalcemia type 1 (FHH1) is a rare inherited disorder. Its exact prevalence is not well-defined, but it is considered uncommon. FHH1 is inherited in an autosomal dominant pattern and caused by mutations in the **CASR** gene, which affects calcium sensing in the body. This condition is typically identified through familial studies as many affected individuals are asymptomatic and may not come to clinical attention unless hypercalcemia is detected during routine blood tests.
- Intractability
- Familial hypocalciuric hypercalcemia 1 (FHH1) generally is not considered an intractable disease. It is typically a benign condition that does not require treatment, as it usually does not lead to significant health issues. Most individuals with FHH1 are asymptomatic and manage normal calcium levels without intervention. However, it is important to differentiate FHH1 from primary hyperparathyroidism, which can have more serious implications and may require treatment.
- Disease Severity
- Familial hypocalciuric hypercalcemia type 1 (FHH1) is generally a benign condition. Most individuals with FHH1 are asymptomatic or have mild symptoms, and it typically does not require treatment. However, it is essential for a proper diagnosis to avoid unnecessary interventions and to differentiate it from more severe conditions like primary hyperparathyroidism.
- Healthcare Professionals
- Disease Ontology ID - DOID:0060700
- Pathophysiology
- Familial hypocalciuric hypercalcemia type 1 (FHH1) is primarily caused by inactivating mutations in the CASR gene, which encodes the calcium-sensing receptor (CaSR). The CaSR is crucial for regulating calcium homeostasis by modulating parathyroid hormone (PTH) secretion and renal calcium reabsorption. Mutations in the CASR gene reduce the receptor's ability to sense extracellular calcium levels correctly, leading to increased PTH secretion and enhanced renal reabsorption of calcium. This results in elevated serum calcium levels (hypercalcemia) with relatively low urinary calcium excretion (hypocalciuria), which are characteristic features of FHH1.
- Carrier Status
- Carrier status for familial hypocalciuric hypercalcemia 1 (FHH1) is typically associated with a mutation in the CASR gene, which encodes the calcium-sensing receptor. Individuals with one copy of the mutated gene (heterozygotes) usually exhibit the disorder with mild symptoms.
- Mechanism
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Familial Hypocalciuric Hypercalcemia 1 (FHH1) is a genetic disorder characterized by elevated levels of calcium in the blood (hypercalcemia) and low levels of calcium in the urine (hypocalciuria).
**Mechanism:**
FHH1 is primarily caused by loss-of-function mutations in the CASR (calcium-sensing receptor) gene, which encodes a protein that helps regulate calcium homeostasis in the body. The receptor is chiefly expressed in the parathyroid glands and kidneys.
**Molecular Mechanisms:**
1. **CASR Gene Mutation**: Mutations in the CASR gene lead to a malfunctioning calcium-sensing receptor. This receptor is less responsive to calcium levels, causing diminished inhibition of parathyroid hormone (PTH) secretion despite high blood calcium levels.
2. **Parathyroid Hormone (PTH)**: Normally, the calcium-sensing receptor modulates PTH secretion. In FHH1, due to the impaired receptor, there is inappropriately normal or mildly elevated PTH despite hypercalcemia, reducing renal calcium excretion and elevating serum calcium levels.
3. **Calcium Reabsorption in Kidneys**: In the kidneys, the faulty signaling of the calcium-sensing receptor leads to increased reabsorption of calcium, contributing to hypocalciuria.
The overall result is a dysregulation of calcium homeostasis manifesting as hypercalcemia with correspondingly low urinary excretion of calcium. - Treatment
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Treatment for Familial Hypocalciuric Hypercalcemia Type 1 (FHH1) typically involves a conservative approach, as the condition is generally benign and asymptomatic. Management mainly focuses on regular monitoring of calcium levels and avoiding unnecessary interventions. Patients are usually advised against excessive calcium or vitamin D intake and may be monitored for complications over time. In rare cases where symptoms are severe, more direct treatment methods may be considered.
As for the term "nan," I am not able to provide relevant information without further context. - Compassionate Use Treatment
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Familial hypocalciuric hypercalcemia type 1 (FHH1) is typically a benign condition and often does not require treatment. However, for those seeking experimental or off-label treatments, there are limited options currently available:
1. **Cinacalcet**: This calcimimetic agent is sometimes used off-label to lower calcium levels in patients with FHH1, though its efficacy and safety in this context are not well-established.
2. **Calcitonin**: In rare and severe cases, calcitonin can be considered to manage hypercalcemia temporarily, although it is not a standard treatment for FHH1.
Given the benign nature of FHH1, the primary approach remains monitoring and managing symptoms rather than active intervention. Compassionate use or experimental treatments should be discussed thoroughly with a healthcare provider. - Lifestyle Recommendations
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For Familial Hypocalciuric Hypercalcemia Type 1 (FHH1), lifestyle recommendations generally include:
1. **Regular Monitoring**: Routine check-ups to monitor calcium and parathyroid hormone levels.
2. **Hydration**: Maintain proper hydration to support kidney function and prevent kidney stones.
3. **Dietary Considerations**: There are usually no specific dietary restrictions, but it's important to follow a balanced diet. Limiting calcium and vitamin D supplements unless directed by a healthcare provider might be advised.
4. **Physical Activity**: Engage in regular physical activity to maintain overall health and well-being.
5. **Avoid Medications that Affect Calcium Levels**: Be cautious with medications like thiazide diuretics and lithium, which can increase calcium levels.
6. **Genetic Counseling**: Consider genetic counseling for family members who may be at risk.
Always consult with a healthcare provider for personalized management plans. - Medication
- For Familial Hypocalciuric Hypercalcemia Type 1 (FHH1), there is typically no medication required as the condition is generally benign and asymptomatic. Management usually involves monitoring calcium levels and avoiding unnecessary interventions. If there are symptoms or complications, treatment options will be individualized.
- Repurposable Drugs
- For Familial Hypocalciuric Hypercalcemia Type 1 (FHH1), which is a genetic disorder typically linked to mutations in the CASR gene, specific drug treatments aren't generally required as the condition is often asymptomatic and benign. Further research into repurposable drugs for FHH1 specifically is limited due to its rare and typically mild nature. Management usually involves monitoring and avoiding unnecessary treatments that aim to lower calcium levels. Consultation with a healthcare provider is crucial for individualized advice.
- Metabolites
- Familial hypocalciuric hypercalcemia 1 (FHH1) is a genetic disorder that affects calcium metabolism. The primary metabolite involved in FHH1 is calcium. In this condition, individuals typically have elevated levels of serum calcium (hypercalcemia) and reduced levels of calcium in the urine (hypocalciuria). Additionally, levels of parathyroid hormone (PTH) may be normal or slightly elevated. Other relevant metabolites and factors include magnesium and phosphate, which may also be monitored in the context of this disorder.
- Nutraceuticals
- Dietary supplements and fortified foods (nutraceuticals) generally do not play a significant role in the management of Familial Hypocalciuric Hypercalcemia type 1 (FHH1). It is a genetic disorder primarily managed through monitoring and not through dietary adjustments or supplements. Treatment typically focuses on routine monitoring of calcium levels rather than intervention since this condition is usually asymptomatic and benign. Always consult a healthcare provider for personalized advice.
- Peptides
- Familial hypocalciuric hypercalcemia type 1 (FHH1) is a genetic disorder that affects calcium homeostasis. It is linked to mutations often occurring in the calcium-sensing receptor (CASR) gene. As a result, peptides directly related to this condition are not typically highlighted, as it primarily involves a receptor alteration rather than a peptide deficiency or surplus. The condition does not typically involve specific peptides as a direct characteristic of the disease.