E74.12 Hereditary fructose intolerance

Name of the Condition

• Hereditary Fructose Intolerance (HFI)
• Known medically as Fructosemia or Aldolase B Deficiency.

Summary

Hereditary Fructose Intolerance is a genetic disorder that affects a person's ability to properly metabolize fructose, a sugar found in many foods. It can lead to serious health problems if left untreated.

Causes

Hereditary Fructose Intolerance is caused by a deficiency of the enzyme aldolase B, which is important for breaking down fructose. This deficiency is inherited in an autosomal recessive pattern, meaning both parents must pass on a mutated gene to the child.

Risk Factors

• Genetic Predisposition: Family history of HFI increases the likelihood.
• Ethnicity: Higher prevalence in certain populations, notably European descent.

Symptoms

• Nausea and vomiting after consuming fructose or sucrose (i.e., fruit, sugar)
• Abdominal pain and bloating
• Hypoglycemia (low blood sugar)
• Jaundice or yellowing of the skin and eyes
• Liver and kidney damage if untreated

Diagnosis

• Genetic Testing: Identifies mutations in the ALDOB gene.
• Fructose Tolerance Test: Measures blood sugar response to fructose ingestion (not commonly used now due to safety concerns).
• Liver Function Tests: Look for liver damage indicative of HFI.

Treatment Options

• Dietary Management: Strict avoidance of fructose, sucrose, and sorbitol.
• Nutritional Support: Supplements to compensate for dietary restrictions.
• Ongoing monitoring by a healthcare provider or nutritionist.

Prognosis and Follow-Up

With early diagnosis and strict adherence to dietary restrictions, individuals with HFI can lead normal, healthy lives. Regular follow-ups with healthcare professionals are necessary to monitor liver and kidney function.

Complications

• Severe liver damage
• Renal dysfunction
• Growth retardation in children
• Possible risk of coma from extreme hypoglycemia

Lifestyle & Prevention

• Dietary Modification: Eliminate fructose-containing foods and products.
• Education: Patients and families should be educated on reading food labels and recognizing substances that may contain fructose or sorbitol.

When to Seek Professional Help

Seek medical advice if:

• Symptoms of hypoglycemia occur, such as confusion or fainting.
• Persistent jaundice or unexplained liver issues develop.
• Dietary guidance is needed to manage the condition.

Additional Resources

• Genetic and Rare Diseases Information Center (GARD): GARD HFI Information
• National Organization for Rare Disorders (NORD): NORD HFI Guide

Tips for Medical Coders

• Ensure accurate documentation of genetic confirmation if available.
• Avoid confusion with similar metabolic disorders; confirm diagnostic tests and family history.