E20.810
Autosomal dominant hypocalcemia
Clinical Classification Guidelines
Inclusion Terms
- Autosomal dominant hypocalcemia type 1 (ADH1)
- Autosomal dominant hypocalcemia type 2 (ADH2)
Code Also
- , if applicable, any associated conditions, such as:
- calculus of kidney (N20.0)
- chronic kidney disease (N18.-)
- respiratory distress (J80, R06.-)
- seizure disorder (G40.-, R56.9)
Medical Intelligence & Overview
Autosomal dominant hypocalcemia (ADH) is a rare inherited condition where individuals have lower than normal calcium levels in their blood. As an autosomal dominant disorder, only one copy of the altered gene inherited from an affected parent can cause the condition. This disorder, primarily categorized as type 1 (ADH1) and type 2 (ADH2), influences how the body manages calcium, an essential mineral vital for bone health, muscle function, and nerve transmission. People with ADH often experience a range of symptoms stemming from calcium imbalance, although some may remain asymptomatic. Understanding the basics of this condition can help in recognizing its implications and the importance of medical management.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting calcium-sensing receptors or related pathways Inheritance of a defective gene from an affected parent following an autosomal dominant pattern Mutations specifically associated with ADH type 1 or type 2, involving different genes or mechanisms Potential rare cases of spontaneous mutations, though these are less common
Key Symptoms: Precocious or early-onset symptoms in some cases Muscle cramps or spasms Numbness or tingling sensations, especially around the mouth or in the extremities Seizures due to low calcium levels affecting nerve activity Fatigue and weakness Difficulty in maintaining normal heart rhythm In some cases, no symptoms are present, and the condition is identified through blood tests
Diagnostic & Treatment
Diagnosis Path: Diagnosis of autosomal dominant hypocalcemia involves a combination of blood tests and genetic analysis. Blood tests typically reveal low calcium levels, while parathyroid hormone (PTH) levels may also be abnormal, helping differentiate ADH from other causes of hypocalcemia. A detailed family history can identify inheritance patterns consistent with autosomal dominant transmission. Genetic testing can confirm mutations associated with ADH type 1 or type 2, providing a definitive diagnosis. Further assessments, such as vitamin D levels and kidney function tests, may be performed to rule out other causes of calcium imbalance.
Treatment Protocols: Management of autosomal dominant hypocalcemia generally focuses on correcting calcium levels and alleviating symptoms. Treatment options may include calcium supplements and active vitamin D analogs to enhance calcium absorption and stabilize blood calcium levels. Regular monitoring of calcium and PTH levels is essential to prevent complications like overly high calcium levels (hypercalcemia). In some cases, adjustments in medication are necessary based on symptom progression and laboratory results. Addressing associated symptoms and preventing complications are key goals in ongoing care, often coordinated through a healthcare provider specializing in metabolic or endocrine disorders.
Clinical Advice & FAQs
Billing Guidance
Is E20.810 a billable ICD-10 code?
Yes, E20.810 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E20.810?
Clinical documentation must specify the nature of Autosomal dominant hypocalcemia and any associated comorbidities for accurate reporting.
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