ICD-10: E20.810

Autosomal dominant hypocalcemia (ADH) is a rare genetic disorder characterized by low levels of calcium in the blood (hypocalcemia) due to a genetic mutation. The ICD-10 code for this condition is E20.810. Below is a detailed clinical description and relevant information regarding this condition.

Clinical Description

Definition

Autosomal dominant hypocalcemia is primarily caused by mutations in the CaSR gene, which encodes the calcium-sensing receptor. This receptor plays a crucial role in regulating calcium homeostasis in the body. Mutations lead to a decreased sensitivity of the receptor to calcium levels, resulting in inappropriate parathyroid hormone (PTH) secretion and subsequent hypocalcemia.

Symptoms

Patients with autosomal dominant hypocalcemia may present with a variety of symptoms, which can vary in severity. Common symptoms include:

• Muscle cramps and spasms: Due to low calcium levels, patients may experience tetany, which is characterized by involuntary muscle contractions.
• Numbness and tingling: Often felt in the extremities, this symptom is related to neuromuscular excitability caused by hypocalcemia.
• Seizures: Severe hypocalcemia can lead to neurological complications, including seizures.
• Fatigue and weakness: Generalized weakness may occur due to muscle dysfunction.
• Dental issues: Some patients may experience dental enamel hypoplasia, leading to increased dental caries.

Diagnosis

Diagnosis of autosomal dominant hypocalcemia typically involves:

• Clinical evaluation: A thorough medical history and physical examination to assess symptoms.
• Laboratory tests: Blood tests to measure serum calcium, phosphate, and PTH levels. In ADH, serum calcium is low, while PTH levels may be inappropriately normal or elevated.
• Genetic testing: Identification of mutations in the CaSR gene can confirm the diagnosis.

Management

Management of autosomal dominant hypocalcemia focuses on correcting calcium levels and alleviating symptoms. Treatment options may include:

• Calcium supplementation: Oral calcium supplements are often prescribed to maintain normal serum calcium levels.
• Vitamin D supplementation: Active forms of vitamin D (such as calcitriol) may be used to enhance calcium absorption from the gut.
• Monitoring: Regular follow-up with serum calcium and PTH levels is essential to adjust treatment as needed.

Prognosis

The prognosis for individuals with autosomal dominant hypocalcemia is generally good with appropriate management. Most patients can lead normal lives with regular monitoring and treatment.

Conclusion

Autosomal dominant hypocalcemia (ICD-10 code E20.810) is a genetic disorder that requires careful diagnosis and management to prevent complications associated with low calcium levels. Understanding the clinical features, diagnostic criteria, and treatment options is crucial for healthcare providers to effectively support patients with this condition. Regular follow-up and patient education are key components of successful management.

Autosomal dominant hypocalcemia (ADH) is a genetic disorder characterized by low levels of calcium in the blood due to a defect in calcium sensing. The ICD-10 code for this condition is E20.810. Understanding the clinical presentation, signs, symptoms, and patient characteristics associated with this condition is crucial for accurate diagnosis and management.

Clinical Presentation

Overview

Autosomal dominant hypocalcemia is primarily caused by mutations in the calcium-sensing receptor (CaSR) gene, which leads to an impaired ability to regulate calcium levels in the body. This condition typically presents in childhood or early adulthood, although it can be diagnosed at any age.

Signs and Symptoms

Patients with autosomal dominant hypocalcemia may exhibit a range of signs and symptoms, which can vary in severity:

• Hypocalcemia Symptoms: Common symptoms associated with low calcium levels include:
• Muscle cramps and spasms: Patients may experience tetany, which is characterized by involuntary muscle contractions.
• Paresthesia: Tingling sensations, particularly around the mouth and in the extremities, are common.
• Seizures: Severe hypocalcemia can lead to neurological symptoms, including seizures.

• Fatigue and weakness: Generalized weakness and fatigue may be reported by patients.

• Dental Issues: Patients may have dental problems, including enamel hypoplasia and delayed eruption of teeth, which are often associated with calcium metabolism disorders.

• Skeletal Abnormalities: Some patients may present with skeletal issues, such as osteopenia or osteoporosis, due to chronic low calcium levels.

• Cardiac Symptoms: In severe cases, hypocalcemia can lead to cardiac arrhythmias, which may manifest as palpitations or syncope.

Patient Characteristics

• Family History: Since ADH is inherited in an autosomal dominant pattern, a family history of hypocalcemia or related symptoms is often present. Affected individuals typically have an affected parent.

• Age of Onset: Symptoms can appear in infancy or early childhood, but some individuals may remain asymptomatic until later in life.

• Gender: There is no significant gender predilection; both males and females are equally affected.

• Associated Conditions: Patients may have other endocrine disorders or conditions related to calcium metabolism, such as primary hyperparathyroidism or vitamin D deficiency, although these are not directly caused by ADH.

Diagnosis and Management

Diagnosis of autosomal dominant hypocalcemia typically involves:
- Laboratory Tests: Blood tests showing low serum calcium levels, elevated parathyroid hormone (PTH) levels, and normal or low urinary calcium excretion are indicative of the condition.
- Genetic Testing: Identification of mutations in the CaSR gene can confirm the diagnosis.

Management strategies may include:
- Calcium and Vitamin D Supplementation: To help maintain normal calcium levels and alleviate symptoms.
- Monitoring: Regular follow-up to monitor calcium levels and adjust treatment as necessary.

Conclusion

Autosomal dominant hypocalcemia (ICD-10 code E20.810) presents with a variety of clinical symptoms primarily related to low calcium levels, including muscle cramps, paresthesia, and potential dental and skeletal issues. Understanding the patient characteristics and clinical presentation is essential for timely diagnosis and effective management of this genetic disorder. Regular monitoring and appropriate supplementation can significantly improve the quality of life for affected individuals.

Autosomal dominant hypocalcemia (ADH) is a genetic condition characterized by low levels of calcium in the blood due to a mutation that affects calcium regulation. The ICD-10 code for this condition is E20.810. Below are alternative names and related terms associated with this diagnosis.

Alternative Names for Autosomal Dominant Hypocalcemia

1. Familial Hypocalcemia: This term emphasizes the hereditary nature of the condition, indicating that it can run in families.
2. Hypoparathyroidism, Familial: Although not identical, this term is sometimes used interchangeably, as ADH can mimic symptoms of hypoparathyroidism, which is characterized by low parathyroid hormone levels leading to hypocalcemia.
3. Calcium-Sensing Receptor (CaSR) Mutation: This refers to the specific genetic mutation often responsible for ADH, highlighting the underlying mechanism of the disorder.
4. Dominant Hypocalcemia: A simplified term that reflects the autosomal dominant inheritance pattern of the condition.

Related Terms

1. Hypocalcemia: A general term for low calcium levels in the blood, which is the primary symptom of ADH.
2. Calcium Metabolism Disorders: A broader category that includes various conditions affecting calcium levels, including ADH.
3. Genetic Hypocalcemia: This term can refer to any hereditary condition that results in low calcium levels, including ADH.
4. Secondary Hyperparathyroidism: While not a direct synonym, this condition can occur as a response to chronic hypocalcemia, including in cases of ADH.
5. Pseudohypoparathyroidism: A condition that can present similarly to ADH but is caused by a different mechanism, often involving resistance to parathyroid hormone.

Conclusion

Understanding the alternative names and related terms for ICD-10 code E20.810 is essential for accurate diagnosis and communication in clinical settings. These terms reflect the genetic basis of the condition and its clinical manifestations, aiding healthcare professionals in recognizing and managing this disorder effectively. If you need further information or specific details about the condition, feel free to ask!

Autosomal dominant hypocalcemia (ADH) is a genetic condition characterized by low levels of calcium in the blood, often due to mutations affecting calcium-sensing mechanisms in the body. The ICD-10 code E20.810 specifically refers to this condition. To diagnose ADH and assign this code, healthcare providers typically follow a set of clinical criteria and diagnostic procedures.

Diagnostic Criteria for Autosomal Dominant Hypocalcemia (E20.810)

1. Clinical Presentation

Patients with autosomal dominant hypocalcemia may present with a variety of symptoms, which can include:
- Hypocalcemia: Low serum calcium levels, often confirmed through blood tests.
- Neuromuscular Symptoms: These may include muscle cramps, spasms, or tetany due to low calcium levels.
- Psychiatric Symptoms: Some patients may experience anxiety or mood changes related to hypocalcemia.

2. Laboratory Tests

To confirm a diagnosis of ADH, several laboratory tests are essential:
- Serum Calcium Levels: A low serum calcium level is a primary indicator. This is often measured alongside ionized calcium levels, which provide a more accurate assessment of calcium status in the body.
- Parathyroid Hormone (PTH) Levels: In ADH, PTH levels are typically elevated or inappropriately normal despite low calcium levels, indicating a dysfunction in calcium regulation.
- Vitamin D Levels: Testing for vitamin D levels is important to rule out other causes of hypocalcemia, such as vitamin D deficiency.

3. Genetic Testing

Genetic testing can confirm the diagnosis of autosomal dominant hypocalcemia:
- Identification of Mutations: Genetic tests can identify mutations in the CASR gene (calcium-sensing receptor), which are commonly associated with ADH. A positive result supports the diagnosis and helps in family planning and management.

4. Family History

Given that ADH is inherited in an autosomal dominant manner, a detailed family history is crucial:
- Family History of Hypocalcemia: A history of similar symptoms or diagnosed hypocalcemia in family members can support the diagnosis.
- Genetic Counseling: Families may benefit from genetic counseling to understand the implications of the condition and the risk of transmission to offspring.

5. Exclusion of Other Conditions

It is important to rule out other causes of hypocalcemia:
- Secondary Causes: Conditions such as hypoparathyroidism, vitamin D deficiency, or renal disease should be excluded through appropriate testing and clinical evaluation.

Conclusion

The diagnosis of autosomal dominant hypocalcemia (ICD-10 code E20.810) involves a combination of clinical evaluation, laboratory testing, genetic analysis, and family history assessment. By following these criteria, healthcare providers can accurately diagnose and manage this condition, ensuring appropriate treatment and monitoring for affected individuals and their families. If you suspect you or someone you know may have this condition, consulting with a healthcare professional for a comprehensive evaluation is essential.

Autosomal dominant hypocalcemia (ADH), associated with ICD-10 code E20.810, is a genetic condition characterized by low levels of calcium in the blood due to mutations affecting calcium-sensing mechanisms. This condition can lead to various symptoms, including muscle cramps, seizures, and cardiac issues. The management of ADH typically involves a combination of dietary modifications, supplementation, and monitoring. Below is a detailed overview of standard treatment approaches for this condition.

Understanding Autosomal Dominant Hypocalcemia

ADH is primarily caused by mutations in the calcium-sensing receptor (CaSR) gene, which plays a crucial role in regulating calcium homeostasis. The impaired function of this receptor leads to inappropriate parathyroid hormone (PTH) secretion, resulting in hypocalcemia despite normal or elevated levels of PTH.

Standard Treatment Approaches

1. Calcium Supplementation

One of the primary treatment strategies for managing hypocalcemia in patients with ADH is calcium supplementation. This can be administered in various forms:

• Oral Calcium: Calcium carbonate or calcium citrate supplements are commonly prescribed to help increase serum calcium levels. The dosage may vary based on the severity of hypocalcemia and individual patient needs.
• Intravenous Calcium: In cases of severe hypocalcemia or when oral supplementation is not effective, intravenous calcium gluconate or calcium chloride may be administered.

2. Vitamin D Supplementation

Vitamin D plays a critical role in calcium absorption from the gastrointestinal tract. Therefore, supplementation with vitamin D (such as cholecalciferol or ergocalciferol) is often recommended to enhance calcium absorption and improve overall calcium levels in the body. The dosage should be tailored to the patient's serum vitamin D levels and overall health status.

3. Monitoring and Adjustments

Regular monitoring of serum calcium, phosphorus, and vitamin D levels is essential in managing ADH. This helps in adjusting the treatment regimen as needed to maintain optimal calcium levels and prevent complications associated with hypocalcemia.

• Routine Blood Tests: Patients should undergo periodic blood tests to monitor calcium and vitamin D levels, as well as renal function, to ensure that the treatment is effective and to avoid potential side effects.

4. Dietary Modifications

Dietary changes can also play a significant role in managing hypocalcemia. Patients are often advised to:

• Increase Calcium Intake: Incorporate calcium-rich foods into their diet, such as dairy products (milk, cheese, yogurt), leafy green vegetables (kale, broccoli), and fortified foods (orange juice, cereals).
• Ensure Adequate Vitamin D: Include foods high in vitamin D, such as fatty fish (salmon, mackerel), egg yolks, and fortified foods.

5. Management of Symptoms

In addition to addressing the underlying hypocalcemia, symptomatic treatment may be necessary for managing complications such as muscle cramps or seizures. This may include:

• Anticonvulsants: If seizures occur, anticonvulsant medications may be prescribed.
• Muscle Relaxants: For muscle cramps, medications that help relax muscles may be considered.

6. Genetic Counseling

Given that ADH is a genetic condition, genetic counseling may be beneficial for affected individuals and their families. This can provide insights into the inheritance patterns, risks for future offspring, and implications for family members.

Conclusion

The management of autosomal dominant hypocalcemia (ICD-10 code E20.810) involves a multifaceted approach that includes calcium and vitamin D supplementation, dietary modifications, regular monitoring, and symptomatic treatment. By tailoring these strategies to the individual needs of patients, healthcare providers can effectively manage this condition and improve the quality of life for those affected. Regular follow-up and adjustments to the treatment plan are crucial to ensure optimal outcomes and prevent complications associated with hypocalcemia.