E73.0
Congenital lactase deficiency
Clinical Classification Guidelines
Medical Intelligence & Overview
Congenital lactase deficiency, also known as congenital lactase deficiency, is a rare genetic disorder characterized by a complete lack of the enzyme lactase from birth. Lactase is essential for digesting lactose, the sugar found in milk and dairy products. Without sufficient lactase, individuals cannot effectively break down lactose into simpler sugars, leading to gastrointestinal symptoms upon consuming dairy. This condition is inherited and present from birth, making early diagnosis and management crucial for affected infants and their families.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting the LCT gene responsible for lactase production Inheritance in an autosomal recessive pattern, meaning both parents carry the gene mutation Absence of environmental or acquired factors as primary causes
Key Symptoms: Severe diarrhea following milk or dairy consumption Abdominal bloating and gas Crying and irritability in infants after feeding Vomiting or refusal to feed Poor weight gain and failure to thrive in infants Stomach cramps and discomfort
Diagnostic & Treatment
Diagnosis Path: Diagnosis of congenital lactase deficiency is based on a combination of clinical history, symptom assessment, and specialized diagnostic tests. These include: - **Hydrogen breath test:** Measures hydrogen levels after lactose ingestion; elevated levels indicate malabsorption. - **Genetic testing:** Identifies mutations in the LCT gene. - **Enzymatic assay:** Usually performed on intestinal biopsy samples; measures lactase activity directly. - **Observation of symptoms:** Onset of symptoms from birth, particularly upon first dairy exposure, supports diagnosis. Since this condition is congenital, symptoms typically appear with the introduction of milk or dairy products in infancy.
Treatment Protocols: Management of congenital lactase deficiency focuses on avoiding lactose-containing foods and ensuring proper nutrition. Key strategies include: - **Lactose-free diet:** Eliminating milk, cheese, yogurt, and other dairy products. - **Lactase enzyme supplements:** Providing lactase enzymes during meals can help digest lactose in some cases. - **Alternative nutrition sources:** Using lactose-free formulas and fortified plant-based milk alternatives. - **Nutritional counseling:** Ensuring adequate intake of calcium, vitamin D, and other nutrients often found in dairy. - **Monitoring growth and development:** Regular check-ups to assess nutritional status and growth in infants and children. In early life, especially in infants, establishing a suitable feeding plan is vital to prevent growth issues and complications associated with malabsorption.
Clinical Advice & FAQs
Billing Guidance
Is E73.0 a billable ICD-10 code?
Yes, E73.0 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E73.0?
Clinical documentation must specify the nature of Congenital lactase deficiency and any associated comorbidities for accurate reporting.
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