Hyperparathyroidism Primary
Disease Details
Family Health Simplified
- Description
- Hyperparathyroidism (primary): A condition characterized by overactivity of one or more of the parathyroid glands, resulting in excessive production of parathyroid hormone (PTH) and elevated levels of calcium in the blood.
- Type
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Primary hyperparathyroidism is a condition characterized by the overproduction of parathyroid hormone (PTH) due to the abnormal function of one or more of the parathyroid glands. It can occur as a result of parathyroid adenomas, hyperplasia, or, less commonly, parathyroid carcinoma.
In terms of genetic transmission, primary hyperparathyroidism can be sporadic or familial. Familial forms of the disease can follow an autosomal dominant pattern of inheritance. Genetic conditions associated with familial primary hyperparathyroidism include Multiple Endocrine Neoplasia type 1 (MEN1), Multiple Endocrine Neoplasia type 2A (MEN2A), and Familial Isolated Hyperparathyroidism (FIHP). - Signs And Symptoms
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Primary hyperparathyroidism is characterized by an overproduction of parathyroid hormone (PTH) by the parathyroid glands. Signs and symptoms can include:
1. **Kidney Stones:** High levels of calcium in the blood can lead to the formation of kidney stones.
2. **Bone Pain and Fragility:** Excess PTH can cause bones to release too much calcium, leading to weakened bones and an increased risk of fractures.
3. **Gastrointestinal Issues:** Symptoms may include nausea, vomiting, constipation, and abdominal pain.
4. **Neurological Symptoms:** Fatigue, depression, confusion, memory problems, and general malaise.
5. **Muscular Symptoms:** Muscle weakness and pain are common.
6. **Increased Thirst and Urination:** High calcium levels can lead to increased thirst and frequent urination.
These symptoms can vary in severity and may not be present in all individuals. - Prognosis
- Primary hyperparathyroidism often has a favorable prognosis, particularly when diagnosed early and treated appropriately. Many patients experience significant improvement or resolution of symptoms following successful surgical removal of the overactive parathyroid gland(s). If left untreated, complications such as osteoporosis, kidney stones, and cardiovascular issues may arise, potentially affecting long-term health. Regular monitoring and management are critical to maintaining a good prognosis.
- Onset
- Primary hyperparathyroidism typically has an onset in adults between the ages of 50 and 60. It is more common in women than in men. The condition often develops slowly over time, and early stages may not produce noticeable symptoms.
- Prevalence
- The prevalence of primary hyperparathyroidism is approximately 1 in 1,000 people in the general population. It is more common in women, especially postmenopausal women, with the prevalence increasing with age.
- Epidemiology
- Primary hyperparathyroidism is more common in women than in men, particularly after menopause. It has an incidence of approximately 21 cases per 100,000 person-years. The prevalence increases with age, affecting about 1-7 per 1,000 adults over the age of 60. Arising typically from a single parathyroid adenoma, its identification has increased due to routine blood tests revealing hypercalcemia.
- Intractability
- No, primary hyperparathyroidism is generally not considered intractable. It can often be effectively treated through surgical removal of the overactive parathyroid gland(s). Non-surgical treatments, such as medication and monitoring, are also options for some patients, particularly if surgery is not suitable.
- Disease Severity
- The severity of primary hyperparathyroidism can vary greatly depending on the level of excess parathyroid hormone (PTH) and its effects on calcium metabolism. Mild cases may be asymptomatic or present with minimal symptoms, while severe cases can lead to significant complications such as kidney stones, osteoporosis, neuropsychiatric disorders, and cardiovascular issues.
- Healthcare Professionals
- Disease Ontology ID - DOID:11202
- Pathophysiology
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Primary hyperparathyroidism is a condition characterized by excessive secretion of parathyroid hormone (PTH) due to intrinsic issues within the parathyroid glands. The most common cause is a benign tumor called a parathyroid adenoma, though hyperplasia or, rarely, parathyroid carcinoma can also be responsible.
**Pathophysiology:**
1. **Overproduction of PTH:** The parathyroid glands secrete excessive amounts of PTH.
2. **Increased Bone Resorption:** PTH stimulates osteoclast activity, leading to increased bone resorption, which releases calcium and phosphate into the bloodstream.
3. **Renal Effects:** PTH increases calcium reabsorption and phosphate excretion in the kidneys. It also stimulates the conversion of 25-hydroxyvitamin D to its active form, 1,25-dihydroxyvitamin D, enhancing intestinal calcium absorption.
4. **Hypercalcemia:** The combined effects raise serum calcium levels, leading to hypercalcemia. Elevated calcium can affect multiple organ systems, producing symptoms like kidney stones, bone pain, and neuropsychiatric disturbances.
The condition often requires monitoring and may necessitate surgical intervention if symptomatic or if complications arise. - Carrier Status
- In the context of primary hyperparathyroidism, the concept of "carrier status" does not apply. Carrier status generally refers to individuals who carry one copy of a gene mutation that could potentially lead to a disease, typically in the context of recessively inherited disorders. Primary hyperparathyroidism is usually caused by benign tumors, such as adenomas, or hyperplasia of the parathyroid glands and is not categorized as a condition with a carrier status.
- Mechanism
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Primary hyperparathyroidism is a condition characterized by the excessive secretion of parathyroid hormone (PTH) due to intrinsic abnormalities within the parathyroid glands.
Mechanism:
- **Parathyroid Hormone (PTH) Overproduction**: The primary mechanism involves the autonomous overproduction of PTH by one or more of the parathyroid glands. This leads to elevated levels of PTH in the blood, which enhances calcium reabsorption in the kidneys, increases calcium release from bones, and elevates calcium absorption in the intestine by stimulating the production of active vitamin D.
Molecular Mechanisms:
- **Gene Mutations**: The condition often involves mutations in specific genes. One common genetic abnormality is the mutation in the MEN1 gene (mutations within this gene are associated with multiple endocrine neoplasia type 1). Additionally, mutations in the *cyclin D1* gene and calcium-sensing receptor (CASR) gene can contribute to the disease.
- **Parathyroid Adenomas**: This is the most common cause of primary hyperparathyroidism, in which benign tumors in the parathyroid gland lead to its overactivity.
- **Parathyroid Hyperplasia**: Less commonly, hyperplasia of all four parathyroid glands occurs, increasing overall PTH secretion.
- **Loss of Calcium-Sensing Regulation**: In some cases, abnormalities in the calcium-sensing receptor on the surface of parathyroid cells can lead to reduced sensitivity to serum calcium levels, resulting in unregulated PTH secretion.
These molecular changes result in the dysregulation of calcium homeostasis, prompting excessive PTH release and hypercalcemia (elevated calcium levels in the blood). - Treatment
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Treatment for primary hyperparathyroidism often involves:
1. **Surgery (Parathyroidectomy)**: The most common and effective treatment, especially if there are symptoms or complications such as kidney stones, osteoporosis, or significant hypercalcemia.
2. **Monitoring**: For mild cases without symptoms, regular monitoring of blood calcium levels, kidney function, and bone density might be recommended.
3. **Medications**:
- **Calcimimetics**: Drugs like cinacalcet can lower calcium levels in the blood.
- **Hormone Replacement Therapy (HRT)**: For postmenopausal women, HRT may help maintain bone density.
- **Bisphosphonates**: These can help protect bones.
4. **Lifestyle Changes**: Adequate hydration, physical activity, and a balanced diet with appropriate calcium and vitamin D intake. Avoidance of medications that raise calcium levels may also be advised. - Compassionate Use Treatment
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Compassionate use treatment refers to providing investigational medical products to patients with serious or life-threatening conditions outside of clinical trials when no comparable or satisfactory alternative treatments are available. In the context of primary hyperparathyroidism, compassionate use treatments would typically involve experimental drugs still in clinical trial phases or not yet approved for general use.
Off-label or experimental treatments for primary hyperparathyroidism may include:
1. **Cinacalcet**: Although FDA-approved for secondary hyperparathyroidism, it has been used off-label to manage symptoms by decreasing serum calcium levels.
2. **Paricalcitol**: Sometimes used off-label to manage calcium levels.
3. **Bisphosphonates**: These drugs, such as alendronate or pamidronate, are primarily used for osteoporosis but may be prescribed off-label to control hypercalcemia.
4. **Denosumab**: This monoclonal antibody, primarily indicated for osteoporosis, has seen off-label use in managing severe hypercalcemia.
Experimental treatments may include various investigational drugs currently undergoing clinical trials that aim to modulate parathyroid hormone levels or calcium metabolism. The specifics would depend on ongoing research developments. Always consult healthcare providers for up-to-date information and recommendations. - Lifestyle Recommendations
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For primary hyperparathyroidism, lifestyle recommendations may include:
1. **Hydration**: Drink plenty of water to help prevent kidney stones, which can be a complication of the disease.
2. **Diet**:
- Reduce intake of calcium-rich foods if advised by your doctor, as excessive calcium can exacerbate the condition.
- Maintain a balanced diet with adequate magnesium and vitamin D, but not in excess.
3. **Exercise**: Engage in regular weight-bearing exercise to strengthen bones and reduce the risk of osteoporosis.
4. **Avoid Smoking**: Smoking can negatively affect bone health, so quitting smoking is advised.
5. **Limit Caffeine and Alcohol**: Excessive consumption can affect bone density and overall health.
Always consult with a healthcare provider for personalized recommendations. - Medication
- Primary hyperparathyroidism is often treated with surgery to remove the overactive parathyroid gland(s). Medication options include calcimimetics like cinacalcet, which can help control calcium levels. Vitamin D analogs and bisphosphonates may also be used to manage bone density issues and prevent complications. Regular monitoring and follow-up are essential.
- Repurposable Drugs
- For primary hyperparathyroidism, there are no widely accepted repurposable drugs currently established. The standard treatment is surgical removal of the overactive parathyroid gland(s). Some medications, such as bisphosphonates and calcimimetics like cinacalcet, may be used to manage symptoms or lower calcium levels but are not considered curative. Research is ongoing, so future developments may identify potential repurposable drugs.
- Metabolites
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In primary hyperparathyroidism, the primary metabolites affected include:
1. **Calcium**: Elevated levels due to increased bone resorption, increased intestinal absorption, and decreased renal excretion.
2. **Phosphate**: Typically decreased levels due to increased renal excretion.
3. **Parathyroid Hormone (PTH)**: Elevated levels since the condition is caused by an overproduction of PTH by one or more of the parathyroid glands.
4. **Vitamin D**: Levels may be decreased as it becomes converted to its active form (calcitriol) to facilitate calcium absorption. The levels of 1,25-dihydroxy vitamin D might be elevated due to increased PTH activity.
Other related metabolites:
- **Alkaline phosphatase**: Often elevated due to increased bone turnover.
Maintaining equilibrium among these metabolites is key in understanding the pathophysiology of primary hyperparathyroidism. - Nutraceuticals
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For primary hyperparathyroidism, nutraceuticals such as vitamin D and calcium supplements might be recommended under specific circumstances, particularly if the patient has concurrent deficiencies, though this should be managed carefully to avoid exacerbating hypercalcemia. It's crucial to follow a healthcare provider's guidance when considering supplements, as they will tailor recommendations based on individual needs and underlying conditions.
"Nan" typically stands for "not applicable" when no known nutraceuticals directly treat the primary condition without medical oversight. - Peptides
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Hyperparathyroidism leads to an overproduction of parathyroid hormone (PTH). Peptides related to this condition involve the excessive secretion of PTH, a key regulator of calcium, phosphate, and vitamin D metabolism in the bones and kidneys. Elevated PTH levels result in hypercalcemia, which is the hallmark of primary hyperparathyroidism.
There is no direct association or treatment involving nanoparticles (nan) specifically for primary hyperparathyroidism. The condition is often managed through surgical removal of the overactive parathyroid gland(s) or through medication that helps control calcium levels.