E83.822
ENPP1 deficiency causing autosomal recessive hypophosphatemic rickets type 2
Clinical Classification Guidelines
Medical Intelligence & Overview
ENPP1 deficiency is a rare genetic condition that can lead to hypophosphatemic rickets, specifically type 2, which is inherited in an autosomal recessive manner. This condition affects how the body handles phosphate, an essential mineral for healthy bones and teeth. When phosphate levels are low because of this deficiency, it can cause soft, weak bones and other related health issues.
Causes & Symptoms
Clinical Causes: Inherited genetic mutation in the ENPP1 gene Autosomal recessive inheritance pattern, meaning both parents must carry and pass on a mutated gene Disruption in the production of an enzyme vital for regulating mineralization and phosphate metabolism
Key Symptoms: Bone deformities such as bowed legs or knocks Delayed growth and development Pain or tenderness in affected bones Enlarged or misshapen skull Dental abnormalities, including weak or prematurely decayed teeth Potential calcification of soft tissues in some cases
Diagnostic & Treatment
Diagnosis Path: Diagnosis typically involves a combination of clinical evaluation, blood tests, and imaging studies. Blood tests may reveal low serum phosphate levels, abnormal levels of calcium and alkaline phosphatase, and other mineral imbalances. Genetic testing can confirm mutations in the ENPP1 gene. X-rays or other imaging modalities can show characteristic bone deformities and growth plate irregularities. Healthcare providers may also assess family history to identify inherited patterns.
Treatment Protocols: Management of ENPP1 deficiency-related hypophosphatemic rickets focuses on correcting mineral imbalances and supporting healthy bone development. Treatment options may include:
Clinical Advice & FAQs
Billing Guidance
Is E83.822 a billable ICD-10 code?
Yes, E83.822 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E83.822?
Clinical documentation must specify the nature of ENPP1 deficiency causing autosomal recessive hypophosphatemic rickets type 2 and any associated comorbidities for accurate reporting.
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