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Hypoparathyroidism

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Description: Hypoparathyroidism is a condition characterized by insufficient production of parathyroid hormone, leading to low calcium levels in the blood and various associated symptoms.
Type: Hypoparathyroidism is primarily an endocrine disorder. The genetic transmission can vary depending on the specific genetic mutation involved. Some forms of hypoparathyroidism are inherited in an autosomal dominant pattern, while others are inherited in an autosomal recessive pattern or as part of complex syndromes with different inheritance patterns. For example, autosomal dominant hypocalcemia is a form of hypoparathyroidism caused by mutations in the CASR gene. Another form can be associated with DiGeorge syndrome, often involving deletions in chromosome 22q11.2, typically occurring de novo rather than inherited.
Signs And Symptoms: The main symptoms of hypoparathyroidism are the result of the low blood calcium level, which interferes with normal muscle contraction and nerve conduction. As a result, people with hypoparathyroidism can experience paresthesia, an unpleasant tingling sensation around the mouth and in the hands and feet, as well as muscle cramps and severe spasms known as "tetany" that affect the hands and feet. Many also report a number of subjective symptoms such as fatigue, headaches, bone pain and insomnia. Crampy abdominal pain may occur. Physical examination of someone with hypocalcemia may show tetany, but it is also possible to provoke tetany of the facial muscles by tapping on the facial nerve (a phenomenon known as Chvostek's sign) or by using the cuff of a sphygmomanometer to temporarily obstruct the blood flow to the arm (a phenomenon known as Trousseau's sign of latent tetany).A number of medical emergencies can arise in people with low calcium levels. These are seizures, severe irregularities in the normal heart beat (specifically prolongation of the QT interval), as well as spasm of the upper part of the airways or the smaller airways known as the bronchi (both potentially causing respiratory failure).
Prognosis: Hypoparathyroidism is a condition characterized by insufficient production of parathyroid hormone (PTH), leading to low calcium levels in the blood.

**Prognosis:**
The prognosis for hypoparathyroidism varies depending on the severity and management of the condition. With appropriate treatment, which typically involves calcium and vitamin D supplements, most individuals can manage their symptoms effectively and lead normal lives. However, ongoing medical supervision is essential to avoid complications such as kidney stones, cataracts, and issues related to low calcium levels, like tetany and seizures.

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Onset: Hypoparathyroidism typically has a variable onset. It can occur suddenly after neck surgery (such as thyroidectomy) or develop gradually due to autoimmune disorders, genetic mutations, or other underlying conditions affecting the parathyroid glands.
Prevalence: Hypoparathyroidism is a rare endocrine disorder with an estimated prevalence of 37 per 100,000 people. It is characterized by insufficient production or secretion of parathyroid hormone, leading to low levels of calcium in the blood.
Epidemiology: Hypoparathyroidism is a rare endocrine disorder characterized by inadequate secretion of parathyroid hormone (PTH) by the parathyroid glands. Its epidemiology includes:
- **Prevalence**: The condition is rare, affecting around 24 to 37 per 100,000 individuals.
- **Demographics**: It can affect individuals of any age, gender, or race, though some forms (e.g., autoimmune hypoparathyroidism) are more common in women.
- **Causes**: The most common cause is surgical removal or damage to the parathyroid glands during thyroid or neck surgery. Other causes include autoimmune disorders, genetic mutations, and severe magnesium deficiency.

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Intractability: Hypoparathyroidism can be challenging to manage but is not typically considered intractable. With appropriate treatment, which often includes calcium and vitamin D supplements, most patients can achieve satisfactory control of their symptoms. However, some individuals may experience persistent difficulties in maintaining stable calcium levels or have complications that require more specialized management.
Disease Severity: Hypoparathyroidism severity can vary greatly depending on the underlying cause and treatment adherence. It can range from mild, manageable symptoms to severe, life-threatening complications if left untreated. Common issues include muscle cramps, tetany, and seizures due to low calcium levels. Long-term complications can involve cardiovascular and kidney problems. Managing the disease often requires lifelong calcium and vitamin D supplementation, and regular monitoring is crucial to maintain stable calcium levels.
Healthcare Professionals: Disease Ontology ID - DOID:11199
Pathophysiology: Hypoparathyroidism is characterized by insufficient production or activity of parathyroid hormone (PTH). PTH is crucial for regulating calcium and phosphate levels in the blood. When PTH levels are low:

1. **Bone:** PTH normally stimulates the release of calcium from bones into the bloodstream. A deficiency leads to decreased bone resorption, resulting in reduced calcium release.
2. **Kidney:** PTH increases calcium reabsorption and phosphate excretion in the kidneys. In hypoparathyroidism, reduced PTH causes increased renal loss of calcium and decreased phosphate excretion, leading to hypocalcemia and hyperphosphatemia.
3. **Vitamin D:** PTH activates vitamin D in the kidneys, which enhances intestinal absorption of calcium and phosphate. Low PTH impairs this activation, further contributing to hypocalcemia.

The combined effects result in low blood calcium levels (hypocalcemia) and elevated phosphate levels (hyperphosphatemia), which can lead to a range of symptoms including muscle cramps, tetany, and seizures.
Carrier Status: In hypoparathyroidism, the concept of "carrier status" is not applicable. Hypoparathyroidism is a condition characterized by an underproduction of parathyroid hormone (PTH) by the parathyroid glands. It can result from genetic mutations, autoimmune disease, or surgical removal of the parathyroid glands. Unlike genetic conditions inherited in a carrier state such as recessive disorders, hypoparathyroidism generally manifests directly without a carrier phase.
Mechanism: The parathyroid glands are so named because they are usually located behind the thyroid gland in the neck. They arise during fetal development from structures known as the third and fourth pharyngeal pouch. The glands, usually four in number, contain the parathyroid chief cells that sense the level of calcium in the blood through the calcium-sensing receptor and secrete parathyroid hormone. Magnesium is required for PTH secretion. Under normal circumstances, the parathyroid glands secrete PTH to maintain a calcium level within normal limits, as calcium is required for adequate muscle and nerve function (including the autonomic nervous system).
PTH acts on several organs to regulate calcium levels and phosphorus levels. PTH acts on the kidneys to increase calcium reabsorption into the blood, and to inhibit phosphorus reabsorption (which causes phosphorus to be lost in the urine). It increases calcium and phosphorus absorption in the bowel indirectly by stimulating the kidneys to produce vitamin D which then acts on the gut. PTH also causes increase bone resorption which leads to the releases calcium and phosphorus into the blood.
Treatment: Severe hypocalcaemia, a potentially life-threatening condition, is treated as soon as possible with intravenous calcium (e.g. as calcium gluconate). Calcium gluconate can be given via a peripheral IV, however other calcium formulations require infusion via a central venous catheter as the calcium can irritate peripheral veins and cause phlebitis. Precautions are taken to prevent seizures or larynx spasms. The heart is monitored for abnormal rhythms during IV treatment as calcium may affect cardiac conduction. When the life-threatening attack has been controlled, the person is then transitioned to long term therapy with oral or subcutaneous injection medications.Long-term treatment of hypoparathyroidism is with vitamin D analogs (such as calcitriol or alfacalcidol), vitamin D supplementation and calcium supplementation. Potential risks of treatment for hypoparathyroidism include hypercalcemia and hypercalciuria (elevated calcium in the urine) which may lead to kidney calcification (nephrocalcinosis) and chronic kidney disease. Calcium levels in the blood and urine (along with other electrolytes) must be monitored during long-term treatment of hypoparathyroidism and blood calcium levels are intentionally kept at the lower limits of normal, or mildly low, specifically to avoid hypercalciuria, kidney calcification and kidney damage.Recombinant human parathyroid hormone and teriparatide (which consists of the first N-terminal 34 amino acids of parathyroid hormone, the bioactive portion of the hormone)(PTH 1-34) may be used as a second line therapy in those that have not responded to conventional therapy. Both medication may be given via subcutaneous injections, but the use of pump delivery of synthetic PTH 1-34 provides the closest approach to physiologic PTH replacement therapy. Recombinant human parathyroid hormone and teriparatide are also associated with a risk of hypercalcemia, hypercalciuria with associated kidney calcification and kidney damage. If these medications are discontinued, they should be tapered and calcium levels should be closely monitored as the transient PTH depletion after stopping the medications can lead to bone leaching of calcium as a compensatory mechanism to increase calcium levels.A 2019 systematic review has highlighted that there is a lack of high-quality evidence for the use of vitamin D, calcium, or recombinant parathyroid hormone in the management of both temporary and long-term hypoparathyroidism following thyroidectomy.Kidney ultrasound may be considered periodically to assess for any nephrocalcinosis for those on long term therapy for hypoparathyroidism.
Compassionate Use Treatment: For hypoparathyroidism, several compassionate use, off-label, or experimental treatments may be considered:

1. **PTH Replacement Therapy**: Recombinant human parathyroid hormone (rhPTH 1-84) is approved in some regions but can be accessed via compassionate use in places where it's not yet approved. This treatment aims to maintain calcium and phosphate levels within the normal range.

2. **Calcium-sensing Receptor Antagonists**: Drugs like NPS R-568 and cinacalcet, primarily used for treating hyperparathyroidism, have been considered off-label. These agents can enhance parathyroid hormone release by modulating calcium-sensing receptors.

3. **Calcitriol and Active Vitamin D analogs**: While not experimental, calcitriol (active form of Vitamin D) and other active Vitamin D analogs (like alfacalcidol or paricalcitol) are often used to manage calcium levels. These treatments can be adjusted off-label for personalized care in severe cases.

4. **Thiazide Diuretics**: Used off-label to reduce urinary calcium excretion and increase renal calcium reabsorption. They are often combined with oral calcium and vitamin D supplements.

5. **Phosphate Binders**: In cases where phosphate levels are difficult to control, phosphate binders may be used to limit dietary phosphate absorption.

6. **Gene-based and Cellular Therapies**: Experimental approaches like gene therapy and stem cell therapy are currently being researched and may offer future treatment possibilities.

These treatments target the underlying issues in hypoparathyroidism but need to be administered cautiously under medical supervision due to potential side effects and the need for close monitoring of biochemical markers.
Lifestyle Recommendations: ### Lifestyle Recommendations for Hypoparathyroidism

1. **Calcium and Vitamin D Intake**:
- Ensure adequate intake of calcium and vitamin D through diet and supplements as prescribed by your healthcare provider.
- Foods rich in calcium include dairy products, fortified plant-based milks, leafy greens, and calcium-fortified juices.

2. **Regular Monitoring**:
- Regularly monitor blood calcium levels as recommended by your healthcare provider to maintain them within an optimal range.
- Keep track of any symptoms and report them to your doctor promptly.

3. **Medication Adherence**:
- Take all medications as prescribed, including calcium, vitamin D, and any other supplements.
- Do not skip doses and consult your doctor before making any changes to your medication regimen.

4. **Diet Management**:
- Avoid foods and drinks that can interfere with calcium absorption, such as those high in phosphorus (e.g., soft drinks, processed foods).
- Maintain a balanced diet that supports overall health and avoids excessive phosphate intake.

5. **Hydration**:
- Stay well-hydrated by drinking plenty of fluids to help maintain good kidney function and aid in calcium absorption.

6. **Exercise**:
- Engage in regular weight-bearing exercises, such as walking and strength training, to improve bone health.
- Avoid high-impact activities that could increase the risk of fractures due to low bone density.

7. **Stress Management**:
- Practice stress-reduction techniques such as yoga, meditation, or breathing exercises to help manage overall health and well-being.

8. **Medical Alert Identification**:
- Consider wearing a medical alert bracelet or carry an identification card indicating you have hypoparathyroidism, in case of an emergency.

Regular follow-ups with healthcare providers are crucial for ongoing management and to adjust treatment as necessary.
Medication: For hypoparathyroidism, nanoparticle-based therapies are emerging but are not yet standard treatments. Current standard medications typically include calcium supplements, active forms of vitamin D (such as calcitriol), and sometimes recombinant parathyroid hormone (PTH 1-84) to help manage the condition and maintain normal calcium levels in the blood.
Repurposable Drugs: For hypoparathyroidism, several drugs have been investigated for repurposing. Notably, PTH (parathyroid hormone) analogs such as teriparatide, originally approved for osteoporosis, have potential use. Additionally, activated forms of vitamin D, like calcitriol or alfacalcidol, are commonly used to manage the condition. Calcium supplements are also essential in treatment.

Unfortunately, there is no nanotechnology-based therapy widely recognized or approved specifically for hypoparathyroidism as of now. Research in this area may be ongoing, but no definitive nanomedicine solutions are available yet.
Metabolites: Hypoparathyroidism is characterized by low levels of parathyroid hormone (PTH), which leads to imbalances in calcium, phosphate, and other metabolites. The primary metabolites affected include:

1. **Calcium:** Low PTH leads to decreased calcium levels (hypocalcemia) because the hormone normally increases calcium reabsorption in the kidneys, releases calcium from bones, and activates vitamin D.

2. **Phosphate:** Elevated phosphate levels (hyperphosphatemia) occur as PTH usually promotes phosphate excretion in the urine.

3. **1,25-Dihydroxyvitamin D:** This active form of vitamin D is often low because PTH stimulates its production in the kidneys.

Patients may require supplements of calcium and active vitamin D to manage the condition.
Nutraceuticals: For hypoparathyroidism, certain nutraceuticals can be beneficial in managing the condition. These may include:

1. **Calcium Supplements**: Essential to manage hypocalcemia, commonly associated with hypoparathyroidism.
2. **Vitamin D**: Often prescribed in its active form (calcitriol) to help maintain calcium levels.
3. **Magnesium**: Important for PTH secretion and function, sometimes necessary if levels are low.
4. **Omega-3 Fatty Acids**: May help reduce inflammation and promote overall health.
5. **Probiotics**: To support gastrointestinal health and potentially improve calcium absorption.

Always consult with a healthcare provider for personalized recommendations and dosage.
Peptides: Hypoparathyroidism is a condition characterized by low levels of parathyroid hormone (PTH), leading to hypocalcemia (low blood calcium levels) and hyperphosphatemia (high blood phosphate levels). The condition can result from surgical removal of the parathyroid glands, autoimmune diseases, or genetic disorders. Symptoms often include muscle cramps or spasms, tingling, fatigue, and, in severe cases, seizures.

For treatment, a synthetic form of PTH known as recombinant human parathyroid hormone (1-84) or rhPTH (1-84), marketed under the brand name Natpara, is available. This peptide therapy aims to regulate calcium and phosphate metabolism by substituting the deficient hormone, thereby alleviating symptoms and improving calcium balance in the body. However, Natpara's usage may be restricted to specific cases due to potential risks and the need for careful monitoring of calcium levels.