Hereditary fructose intolerance
ICD-10 E74.12 is a billable code used to indicate a diagnosis of hereditary fructose intolerance.
Hereditary fructose intolerance (HFI) is a genetic metabolic disorder caused by a deficiency of the enzyme aldolase B, which is essential for the metabolism of fructose. This condition leads to the accumulation of fructose-1-phosphate in the liver, kidneys, and intestines, resulting in a range of symptoms upon ingestion of fructose or sucrose. Patients may experience severe hypoglycemia, abdominal pain, vomiting, and failure to thrive in infancy. Long-term exposure to fructose can lead to liver damage, renal failure, and growth retardation. Diagnosis is typically confirmed through genetic testing or enzyme activity assays. Management involves strict dietary restrictions to avoid fructose, sucrose, and sorbitol, which can help prevent acute symptoms and long-term complications. Early diagnosis and intervention are crucial for improving outcomes and quality of life for affected individuals.
Detailed dietary history and growth parameters
Infants presenting with failure to thrive or gastrointestinal symptoms after fructose ingestion
Monitoring for developmental milestones and nutritional status
Genetic testing results and family history of metabolic disorders
Patients with a family history of HFI or unexplained metabolic symptoms
Emphasis on genetic counseling and family planning
Used when confirming a diagnosis of HFI.
Document the indication for testing and results.
Genetic counseling may be necessary.
Hereditary fructose intolerance is a genetic disorder caused by a deficiency of the enzyme aldolase B, leading to severe reactions to fructose consumption.
Diagnosis is typically made through genetic testing or enzyme activity assays, along with a detailed dietary history.
Patients must avoid all sources of fructose, sucrose, and sorbitol to prevent symptoms and complications.
