Hyperparathyroidism
Disease Details
Family Health Simplified
- Description
- Hyperparathyroidism is a condition characterized by the overproduction of parathyroid hormone (PTH), which can lead to elevated calcium levels in the blood.
- Type
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Hyperparathyroidism can be classified into three main types: primary, secondary, and tertiary.
1. **Primary Hyperparathyroidism**: This occurs when one or more of the parathyroid glands are overactive, often due to a benign tumor (adenoma).
**Genetic Transmission**: In some cases, primary hyperparathyroidism can be inherited in an autosomal dominant manner, particularly in familial syndromes such as Multiple Endocrine Neoplasia type 1 (MEN1) and type 2A (MEN2A), as well as in Familial Isolated Hyperparathyroidism (FIHP).
2. **Secondary Hyperparathyroidism**: This is a response to chronic hypocalcemia, often due to chronic kidney disease or vitamin D deficiency. It does not typically have a genetic basis.
3. **Tertiary Hyperparathyroidism**: This occurs when secondary hyperparathyroidism becomes refractory and the parathyroid glands become autonomously overactive. It is usually a long-term complication of chronic kidney disease and is not inherited.
The genetic transmission is mostly relevant to primary hyperparathyroidism in the context of familial syndromes. - Signs And Symptoms
- In primary hyperparathyroidism, about 75% of people are "asymptomatic". While most primary patients are asymptomatic at the time of diagnosis, 'asymptomatic' is poorly defined and represents only those without "obvious clinical sequelae" such as kidney stones, bone disease, or hypercalcemic crisis. These "asymptomatic" patients may have other symptoms such as depression, anxiety, gastrointestinal distress, and neuromuscular problems that are not counted as symptoms. The problem is often picked up incidentally during blood work for other reasons, and the test results show a higher amount of calcium in the blood than normal. Many people only have non-specific symptoms.Common manifestations of hypercalcemia include constipation, vomiting, weakness, lethargy, fatigue, depression, bone pain, muscle soreness (myalgias), joint pain, decreased appetite, feelings of nausea and vomiting, abdominal pain, constipation, pancreatitis, polyuria, polydipsia, cognitive impairment, kidney stones (), vertigo and osteopenia or osteoporosis. A history of acquired racquet nails (brachyonychia) may be indicative of bone resorption. Radiographically, hyperparathyroidism has a pathognomic finding of rugger jersey spine. Parathyroid adenomas are very rarely detectable on clinical examination. Surgical removal of a parathyroid tumor eliminates the symptoms in most patients.In secondary hyperparathyroidism due to lack of vitamin D absorption, the parathyroid gland is behaving normally; clinical problems are due to bone resorption and manifest as bone syndromes such as rickets, osteomalacia, and renal osteodystrophy.
- Prognosis
- The prognosis for hyperparathyroidism generally varies depending on early diagnosis and effective management. Most individuals with primary hyperparathyroidism who undergo successful surgical removal of the overactive parathyroid gland(s) experience significant improvement and a return to normal calcium levels. Non-surgical management, including medication and monitoring, can also be effective, particularly in mild cases or in those who are not surgical candidates. Secondary hyperparathyroidism, usually related to chronic kidney disease, may require ongoing treatment and management of the underlying cause. With appropriate interventions, many patients can achieve favorable outcomes and maintain a good quality of life.
- Onset
- Onset of hyperparathyroidism can vary based on its form. Primary hyperparathyroidism typically occurs in adults, most often between ages 50 and 60, and is more common in women. Secondary hyperparathyroidism can develop at any age but is frequently seen in individuals with chronic kidney disease or vitamin D deficiency. The onset for secondary hyperparathyroidism corresponds with the progression of these underlying conditions.
- Prevalence
- Hyperparathyroidism is relatively common, particularly among older adults. It affects approximately 1 in 1,000 people in the general population, with higher prevalence in postmenopausal women. The condition is less common in men and younger individuals.
- Epidemiology
- In the developed world, between one and four per thousand people are affected. Primary hyperparathyroidism is the most common type. Certain exposures increase the risk of developing primary hyperparathyroidism such as sex and age. It occurs three times more often in women than men and is often diagnosed between the ages of 50 and 60 but is not uncommon before then. The disease was first described in the 1700s. In the late 1800s, it was determined to be related to the parathyroid. Surgery as a treatment was first carried out in 1925. The United States prevalence of primary hyperparathyroidism from 2010 was 233 per 100,000 women and 85 per 100,000 men. Black and white women aged 70–79 have the highest overall prevalence. Secondary hyperparathyroidism is most commonly caused by chronic kidney disease and vitamin D deficiency. The prevalence of vitamin D deficiency is about 50% of the world population and chronic kidney disease prevalence is 15% of the United States population.
- Intractability
- Hyperparathyroidism can often be effectively managed and, in many cases, cured. Primary hyperparathyroidism, typically caused by a benign tumor on one of the parathyroid glands, can usually be treated through surgical removal of the affected gland. Secondary hyperparathyroidism, often related to chronic kidney disease or vitamin D deficiency, can be managed with medications and dietary modifications. Therefore, it is generally not considered an intractable disease.
- Disease Severity
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The severity of hyperparathyroidism varies depending on whether it is primary, secondary, or tertiary:
1. **Primary Hyperparathyroidism:**
- Often asymptomatic or with mild symptoms initially.
- Can lead to severe complications like osteoporosis, kidney stones, cardiovascular disease, and weakened bones if untreated.
2. **Secondary Hyperparathyroidism:**
- Typically occurs due to chronic kidney disease.
- Can be severe, contributing to bone pain, skeletal deformities, and cardiovascular issues due to prolonged elevated parathyroid hormone (PTH) levels.
3. **Tertiary Hyperparathyroidism:**
- Usually arises from long-standing secondary hyperparathyroidism, particularly in patients with chronic kidney disease.
- Severity can be high, with significant bone disease and hypercalcemia, necessitating more aggressive treatment. - Healthcare Professionals
- Disease Ontology ID - DOID:13543
- Pathophysiology
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Hyperparathyroidism is characterized by an overproduction of parathyroid hormone (PTH) by the parathyroid glands. This can be primary, secondary, or tertiary.
- **Primary Hyperparathyroidism**: This occurs due to an intrinsic problem within the parathyroid glands, most commonly from a benign adenoma, hyperplasia, or rarely, a parathyroid carcinoma. The excessive secretion of PTH leads to hypercalcemia by increasing renal calcium reabsorption, stimulating osteoclastic activity, and increasing intestinal calcium absorption through increased production of active vitamin D.
- **Secondary Hyperparathyroidism**: This is a compensatory response to chronic hypocalcemia often due to conditions like chronic kidney disease (CKD) or vitamin D deficiency. The parathyroid glands become hyperplastic and secrete more PTH to maintain normal calcium levels.
- **Tertiary Hyperparathyroidism**: This occurs in the context of chronic kidney disease when secondary hyperparathyroidism is prolonged and the parathyroid glands become autonomously overactive, leading to hypercalcemia.
In all forms, the excessive PTH disrupts normal calcium and phosphate homeostasis, leading to potential complications such as osteoporosis, nephrolithiasis, and neuromuscular symptoms. - Carrier Status
- Hyperparathyroidism is not a condition that is typically associated with a carrier status, as it is generally not an inherited disorder in the genetic sense. It can occur due to various factors including benign growths on the parathyroid glands, known as adenomas, or as a result of other medical conditions. Familial isolated hyperparathyroidism is a rare inherited form, but the concept of "carrier status" does not apply in the same way it does for recessive genetic disorders.
- Mechanism
- Normal parathyroid glands measure the ionized calcium (Ca2+) concentration in the blood and secrete parathyroid hormone accordingly; if the ionized calcium rises above normal, the secretion of PTH is decreased, whereas when the Ca2+ level falls, parathyroid hormone secretion is increased.
- Treatment
- Treatment depends on the type of hyperparathyroidism encountered.
- Compassionate Use Treatment
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Compassionate use treatment for hyperparathyroidism is not commonly documented, as it generally involves medications or procedures that are still in experimental stages and not yet widely approved. However, here are some off-label or experimental treatments for hyperparathyroidism:
1. **Cinacalcet (Sensipar)**: Though approved for secondary hyperparathyroidism in patients with chronic kidney disease on dialysis, it is sometimes used off-label for primary hyperparathyroidism.
2. **Bisphosphonates**: These drugs, typically used for osteoporosis, have been used off-label to manage high calcium levels in hyperparathyroidism by reducing bone resorption.
3. **Denosumab (Prolia)**: This is another osteoporosis treatment that has been used off-label for managing hypercalcemia in patients with hyperparathyroidism.
4. **Vitamin D Analogues**: Such as paricalcitol and doxercalciferol, are occasionally used off-label to manage secondary hyperparathyroidism.
5. **Calcimimetics**: Besides cinacalcet, other calcimimetics under investigation may provide new options for hyperparathyroidism treatment.
It's important for patients to discuss these options with their healthcare providers, as the safety and efficacy of off-label and experimental treatments need thorough evaluation. - Lifestyle Recommendations
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For hyperparathyroidism, lifestyle recommendations include:
1. **Maintain Hydration**: Drink plenty of water to help prevent kidney stones, which can be a complication of hyperparathyroidism.
2. **Balanced Diet**:
- Limit calcium intake if advised by a healthcare provider, as excessive calcium can worsen symptoms.
- Ensure adequate intake of Vitamin D unless otherwise directed.
3. **Regular Exercise**: Engage in weight-bearing exercises, like walking or jogging, to help maintain bone density.
4. **Avoid Smoking**: Smoking can negatively affect bone health.
5. **Limit Alcohol**: Excessive alcohol can leach calcium from bones, worsening bone density issues.
6. **Monitor Symptoms**: Regularly track symptoms and any changes, and report them to a healthcare provider.
Always consult with a healthcare provider for personalized advice and treatment adjustments based on individual health conditions. - Medication
- For hyperparathyroidism, cinacalcet is commonly prescribed to lower calcium levels. Other medications such as bisphosphonates or hormone replacement therapy may also be used depending on the cause and severity of the condition.
- Repurposable Drugs
- For hyperparathyroidism, there are currently no widely recognized repurposable drugs specifically approved for this condition. Treatment typically involves managing the underlying cause, which may necessitate surgical intervention or medications to manage calcium levels.
- Metabolites
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In hyperparathyroidism, several key metabolites are affected due to altered parathyroid hormone (PTH) levels. These include:
1. **Calcium:** Elevated in blood due to increased PTH.
2. **Phosphate:** Often decreased in blood due to increased renal excretion of phosphate stimulated by PTH.
3. **1,25-dihydroxyvitamin D (Calcitriol):** Increased in some cases because PTH stimulates the conversion of 25-hydroxyvitamin D to its active form in the kidneys.
4. **Bone turnover markers:** Elevated levels of alkaline phosphatase can be observed, indicating increased bone resorption.
Nan, or nanomolar, typically describes concentrations and may be relevant when discussing hormone levels or medications in research contexts but is not specifically notable in the clinical discussion of hyperparathyroidism. - Nutraceuticals
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Nutraceuticals for hyperparathyroidism primarily aim to manage symptoms and complications such as bone loss. Commonly considered supplements include:
1. **Calcium:** To manage bone density and prevent hypocalcemia.
2. **Vitamin D:** To enhance calcium absorption and support bone health.
3. **Magnesium:** Important for parathyroid gland function and bone health.
4. **Omega-3 Fatty Acids:** To reduce inflammation and support overall health.
5. **Vitamin K2:** To help regulate calcium deposition in bones and arteries.
Always consult a healthcare provider before starting any nutraceutical regimen. - Peptides
- In hyperparathyroidism, excessive amounts of parathyroid hormone (PTH) are produced by the parathyroid glands. PTH is a peptide hormone that regulates calcium and phosphate levels in the blood. There is no direct involvement of nanoparticles (nan) in the typical understanding or treatment of hyperparathyroidism.