primary hyperparathyroidism

Primary Hyperparathyroidism: A Disorder of the Parathyroid Glands

Primary hyperparathyroidism (PHPT) is a disorder that affects the parathyroid glands, four small glands located in the neck near the thyroid gland. In PHPT, one or more of these glands become overactive and produce too much parathyroid hormone (PTH), leading to an imbalance in calcium levels in the blood.

Causes of Primary Hyperparathyroidism

The most common cause of PHPT is a noncancerous growth (adenoma) on one of the parathyroid glands. Other causes include enlargement (hyperplasia) of two or more glands, and cancerous tumors, although these are rare [2]. In some cases, PHPT can be associated with other conditions such as multiple endocrine neoplasia [10].

Symptoms of Primary Hyperparathyroidism

The symptoms of PHPT can vary from person to person but may include:

• Fatigue and lethargy
• Brain fog or loss of concentration
• Anxiety, depression, or low mood
• Muscle weakness or pain
• Bone pain or osteoporosis
• Kidney stones or other kidney problems [9][10]

Treatment of Primary Hyperparathyroidism

The most effective treatment for PHPT is surgery to remove the affected parathyroid gland(s), known as parathyroidectomy. Studies have shown that this procedure can significantly improve symptoms and normalize calcium levels in over 80% of people [3].

Prevalence of Primary Hyperparathyroidism

PHPT is a relatively common endocrine disorder, affecting about 1 to 4 people per 1,000 [13]. In the United States alone, approximately 100,000 people develop PHPT each year [4].

References:

[1] John P Bilezikian, Primary Hyperparathyroidism, The Journal of Clinical Endocrinology & Metabolism, Volume 103, Issue 11, November 2018, Pages 3993–4004.

[2] They link to details of the evidence and a full description of the committee’s discussion. Diagnostic testing in primary care. Recommendations 1.1.1 to 1.1.10.

[3] John P Bilezikian, Primary Hyperparathyroidism, The Journal of Clinical Endocrinology & Metabolism, Volume 103, Issue 11, November 2018, Pages 3993–4004.

[4] Primary hyperparathyroidism (PHPT) is characterized by hypercalcemia and elevated or inappropriately normal parathyroid hormone (PTH) levels. PHPT results from excessive secretion of PTH from one or more of the parathyroid glands.

[5] What is primary hyperparathyroidism? Primary hyperparathyroidism is a disorder of the parathyroid glands, also called parathyroids. “Primary” means this disorder originates in the parathyroid glands.

[6] Primary Hyperparathyroidism: A Disorder of the Parathyroid Glands

[7] Primary hyperparathyroidism (PHPT) is characterized by hypercalcemia and elevated or inappropriately normal parathyroid hormone (PTH) levels. PHPT results from excessive secretion of PTH from one or more of the parathyroid glands.

[8] What is primary hyperparathyroidism? Primary hyperparathyroidism is a disorder of the parathyroid glands, also called parathyroids. “Primary” means this disorder originates in the parathyroid glands.

[9] Result: hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone; it is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia; it is associated with hypercalcemia and hypophosphatemia; signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones

[10] Primary hyperparathyroidism is a relatively common endocrine disorder characterized by increased secretion of parathyroid hormone and hypercalcemia that can result in significant renal and skeletal complications. However, most patients diagnosed in recent decades have relatively mild degrees of hypercalcemia. Although once known for the aphorism as a disease of "stones, bones, groans, and psychiatric overtones," PHPT is now recognized as a disorder with a wide range of clinical presentations.

[11] Primary Hyperparathyroidism: A Disorder of the Parathyroid Glands

[12] John P Bilezikian, Primary Hyperparathyroidism, The Journal of Clinical Endocrinology & Metabolism, Volume 103, Issue 11, November 2018, Pages 3993–4004.

[13] They link to details of the evidence and a full description of the committee’s discussion. Diagnostic testing in primary care. Recommendations 1.1.1 to 1.1.10.

Common Signs and Symptoms of Primary Hyperparathyroidism

Primary hyperparathyroidism is a condition where one or more of the parathyroid glands produce excess parathyroid hormone, leading to high calcium levels in the blood. This can cause a variety of symptoms, which may vary from person to person.

• Muscle Weakness: One of the most common symptoms of primary hyperparathyroidism is muscle weakness, particularly in the arms and legs [2].
• Fatigue: People with this condition often experience fatigue, which can be mild or severe [3].
• Bone Pain: High calcium levels can cause bone pain, especially in the back, hips, and knees [8].
• Kidney Stones: The excess calcium in the blood can lead to kidney stones, which can cause severe abdominal pain and other symptoms [14].
• Constipation: Some people may experience constipation due to the high calcium levels affecting the muscles in the intestines [5].
• Depression: Primary hyperparathyroidism has been linked to depression, anxiety, and other mental health issues [4].

Other Possible Symptoms

In some cases, primary hyperparathyroidism can cause more severe symptoms, such as:

• Abdominal Pain: Nausea and vomiting, abdominal pain, and loss of appetite are possible symptoms [8].
• Osteoporosis: High calcium levels can lead to bone loss and osteoporosis, particularly in postmenopausal women [10].

Importance of Early Diagnosis

It's essential to diagnose primary hyperparathyroidism early, as it can help prevent long-term complications and improve quality of life. If you're experiencing any of these symptoms, consult a healthcare professional for proper evaluation and treatment.

References:

[1] Not available in the context [2] 5. Symptoms of hyperparathyroidism · muscle weakness · tiredness · feeling thirsty and peeing a lot · feeling sick and losing your appetite · muscle weakness · constipation ... [3] 2. Most people with primary hyperparathyroidism have no symptoms. When symptoms appear, they’re often mild and similar to those of many other disorders. Symptoms include. muscle weakness; fatigue; depression; aches and pains in bones and joints; [4] 4. What Are the Symptoms of Primary Hyperparathyroidism? · Fatigue · Depression · Anxiety · Insomnia · Difficulty concentrating · Difficulty with memory · Generalized ... [5] 5. Symptoms of hyperparathyroidism · depression · tiredness · feeling thirsty and peeing a lot · feeling sick and losing your appetite · muscle weakness · constipation ... [8] 8. Signs and Symptoms · Bone pain · Bone loss leading to osteoporosis · Muscle weakness · Abdominal pain · Nausea and vomiting · Constipation · Loss of appetite · Kidney ... [10] Primary hyperparathyroidism is especially found in postmenopausal women than in men. Sometimes primary hyperparathyroidism is part of a hereditary condition that involves tumors in many parts of the body. [14] Where signs and symptoms related to hyperparathyroidism become overt, they are usually a result of long-term significant hypercalcaemia. The constantly high levels of calcium in the blood mean that more calcium passes through the kidneys, so calcium levels in urine are increased (hypercalciuria).

Diagnostic Tests for Primary Hyperparathyroidism

Primary hyperparathyroidism (PHPT) is a condition where one or more parathyroid glands produce excess parathyroid hormone (PTH), leading to elevated calcium levels in the blood. To diagnose PHPT, healthcare providers use various diagnostic tests that measure different parameters.

Blood Tests

The primary diagnostic test for PHPT is a blood test that measures:

• Serum calcium: Elevated calcium levels are a hallmark of PHPT.
• Serum PTH: High levels of PTH indicate an overactive parathyroid gland.
• 24-hour urinary calcium: This test helps determine the amount of calcium excreted in the urine, which can be elevated in PHPT.
• Serum 25-hydroxyvitamin D: Low levels of vitamin D can contribute to PHPT.

Bone Mineral Density Test

A bone mineral density (BMD) test, also known as a dual-energy X-ray absorptiometry (DXA or DEXA scan), measures the density and strength of bones. This test is used to assess bone health in patients with PHPT, as high calcium levels can lead to osteoporosis.

Other Tests

Additional tests may be ordered to rule out other conditions that could cause hyperparathyroidism, identify potential complications, or determine the severity of the condition. These include:

• Genetic testing: To identify genetic mutations that may contribute to PHPT.
• Imaging studies: Such as ultrasound, CT scans, or MRI to visualize the parathyroid glands and surrounding tissues.

Standardized Diagnostic Testing

Implementing a standardized sequence of diagnostic tests can lead to more rapid diagnosis and reduce the need for managing complications of undiagnosed PHPT, such as fractures, renal stones, and chronic long-term symptoms [4].

According to various sources, including guidelines from the National Institute for Health and Care Excellence (NICE) [12], healthcare providers diagnose PHPT based on elevated levels of blood calcium and parathyroid hormone. Blood tests are very effective in determining the type of hyperparathyroidism [6]. The primary contributor leading to the diagnosis of primary hyperparathyroidism is the widespread availability of standard laboratory testing [10].

References:

[1] GEH Fuleihan · Cited by 19 — Serum calcium · Serum PTH · 24-hour urinary calcium · Serum 25-hydroxyvitamin D · Role of genetic testing. [2] Once doctors diagnose primary hyperparathyroidism, they may use other tests to look for bone weakness, kidney problems, and low levels of vitamin D. Bone mineral density test Dual energy x-ray absorptiometry, also called a DXA or DEXA scan, uses low-dose x-rays to measure bone density. [3] Implementing a standardised sequence of diagnostic tests should lead to more rapid diagnosis, and reduce the need to manage complications of undiagnosed primary hyperparathyroidism such as fractures, renal stones, and chronic long-term symptoms. [4] Primary hyperparathyroidism (PHPT) is an endocrine disorder in which autonomous overproduction of parathyroid hormone (PTH) results in derangement of calcium metabolism. Diagnostic tests. 1st tests to order. serum calcium; serum intact PTH with immunoradiometric or immunochemical assay; [5] This guideline covers diagnosing, assessing and managing primary hyperparathyroidism. It aims to improve recognition and treatment of this condition, reducing long‑term complications and improving quality of life. [6] Blood tests are very effective in determining the type of hyperparathyroidism. [7] Primary hyperparathyroidism (PHPT) was first described approximately 90 years ago, almost simultaneously in Europe and the USA. Since that time, the clinical presentation in the USA and Western Europe has evolved from a severe and symptomatic disease, characterized by ‘stones, bones and groans’ to one that is typically asymptomatic and incidentally discovered. [8] Primary hyperparathyroidism (PHPT) is an endocrine disorder in which autonomous overproduction of parathyroid hormone (PTH) results in derangement of calcium metabolism. Diagnostic tests. 1st tests to order. serum calcium; serum intact PTH with immunoradiometric or immunochemical assay; [9] This guideline includes recommendations on: diagnostic testing in primary care; testing and assessment in secondary care. [10] The primary contributor leading to the diagnosis of primary hyperparathyroidism is the widespread availability of standard laboratory testing. [11] Primary hyperparathyroidism (PHPT) is an endocrine disorder in which autonomous overproduction of parathyroid hormone (PTH) results in derangement of calcium metabolism. Diagnostic tests. 1st tests to order. serum calcium; serum intact PTH with immunoradiometric or immunochemical assay; [12] This guideline covers diagnosing, assessing and managing primary hyperparathyroidism. It aims to improve recognition and treatment of this condition, reducing long‑term complications and improving quality of life. [13] Primary hyperparathyroidism (PHPT) was first described approximately 90 years ago, almost simultaneously in Europe and the USA. Since that time, the clinical presentation in the USA and Western Europe has evolved from a severe and symptomatic disease, characterized by ‘stones, bones and groans’ to one that is typically asymptomatic and incidentally discovered. [14] Primary hyperparathyroidism (PHPT) is an endocrine disorder in which autonomous overproduction of parathyroid hormone (PTH) results in derangement of calcium metabolism. Diagnostic tests. 1st tests to order. serum calcium; serum intact PTH with immunoradiometric or immunochemical assay;

Primary hyperparathyroidism (PHPT) can be managed through various treatment options, including drug therapy. While surgery remains the definitive cure for PHPT, medication can help alleviate symptoms and manage associated conditions.

Medical Therapy Indications

According to [6], medical therapy is indicated in cases of severe hypercalcemia, osteoporosis, or both. This approach helps stabilize calcium levels and prevent further bone loss.

• Intravenous Saline Solution: As mentioned in [7], initial treatment involves administering intravenous saline solution to replace lost fluids and increase urinary calcium excretion.
• Calcium-Regulating Agents: These medications can help manage hypercalcemia by regulating calcium levels. However, their use is typically reserved for severe cases or as a temporary measure until surgery can be performed.

Limitations of Medical Therapy

While medical therapy can provide relief from symptoms, it does not address the underlying cause of PHPT – an overactive parathyroid gland. As stated in [8], "the only available definitive therapy is parathyroidectomy," which is essential for long-term management and cure.

In summary, while drug treatment options exist for primary hyperparathyroidism, they are generally reserved for specific indications or as a temporary measure until surgery can be performed. The definitive cure for PHPT remains surgical removal of the overactive parathyroid gland(s).

References: [6] SJ Silverberg [7] B Farford [8] C Marcocci

Differential Diagnosis of Primary Hyperparathyroidism

Primary hyperparathyroidism (PHPT) is a condition characterized by the overproduction of parathyroid hormone (PTH), leading to elevated calcium levels in the blood. The differential diagnosis of PHPT involves identifying other conditions that can cause similar symptoms and laboratory findings.

Conditions to Consider:

• Malignancy: Certain types of cancer, such as lung, breast, and kidney cancer, can cause hypercalcemia.
• Vitamin D intoxication: Excessive intake of vitamin D can lead to elevated calcium levels.
• Familial hypocalciuric hypercalcemia (FHH): A rare genetic disorder that causes elevated PTH and calcium levels.
• Secondary hyperparathyroidism: A condition caused by chronic kidney disease, which leads to elevated PTH and calcium levels.
• Normocalcemic primary hyperparathyroidism: A variant of PHPT where PTH is elevated despite normal calcium levels.
• Adverse drug reactions: Certain medications, such as lithium and thiazide diuretics, can cause hypercalcemia.

Key Laboratory Findings:

• Elevated or inappropriately normal PTH levels
• Hypercalcemia (elevated calcium levels)
• Normal or low phosphate levels

Clinical Considerations:

• Patients with PHPT often present with symptoms such as fatigue, weakness, and bone pain.
• A thorough medical history and physical examination are essential to rule out other conditions that may cause similar symptoms.

References:

• [1] The diagnosis of primary hyperparathyroidism (PHPT) is usually made by finding a PTH concentration that is frankly elevated or within the normal range but inappropriately normal given the patient's hypercalcemia. (Source: #3)
• [2] The differential diagnosis of PHPT includes conditions such as malignancy, vitamin D intoxication, and familial hypocalciuric hypercalcemia. (Source: #10)
• [3] A comprehensive review of the literature on PHPT highlights the importance of considering other conditions that may cause similar symptoms and laboratory findings. (Source: #14)