E74.12 Hereditary fructose intolerance

ICD10CM code

#### 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](https://rarediseases.info.nih.gov)
- **National Organization for Rare Disorders (NORD)**: [NORD HFI Guide](https://rarediseases.org)

#### Tips for Medical Coders
- Ensure accurate documentation of genetic confirmation if available.
- Avoid confusion with similar metabolic disorders; confirm diagnostic tests and family history.

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