Which are the symptoms of Hereditary Fructose Intolerance?

Symptoms of Hereditary Fructose Intolerance

Hereditary Fructose Intolerance (HFI) is a rare genetic disorder that affects the body's ability to metabolize fructose, a type of sugar found in many fruits, vegetables, and sweeteners. Individuals with HFI lack the enzyme called aldolase B, which is necessary for breaking down fructose in the liver. As a result, fructose builds up in the body, leading to various symptoms and complications.

1. Gastrointestinal Symptoms

One of the primary symptoms of HFI is gastrointestinal distress. Consuming fructose or foods containing fructose can cause severe abdominal pain, bloating, and diarrhea. These symptoms typically occur shortly after ingesting fructose and can be quite debilitating. Individuals with HFI often experience these gastrointestinal symptoms throughout their lives.

2. Hypoglycemia

Hypoglycemia, or low blood sugar levels, is another common symptom of HFI. Since fructose cannot be properly metabolized, it leads to a decrease in blood sugar levels. This can result in weakness, fatigue, dizziness, sweating, and even loss of consciousness. Hypoglycemia can be dangerous if not managed promptly, so individuals with HFI need to be cautious about their diet and blood sugar levels.

3. Failure to Thrive

Infants with HFI may experience failure to thrive. Due to the inability to digest fructose, infants may have difficulty gaining weight and growing at a normal rate. They may appear weak, have reduced muscle tone, and exhibit delayed development milestones. Early diagnosis and dietary management are crucial to ensure proper growth and development in affected infants.

4. Liver and Kidney Problems

Long-term fructose accumulation can lead to liver and kidney damage. The excess fructose can cause liver dysfunction, leading to hepatomegaly (enlarged liver), jaundice, and elevated liver enzymes. Additionally, fructose can be converted into substances that can damage the kidneys, potentially resulting in kidney stones or kidney failure. Regular monitoring of liver and kidney function is essential for individuals with HFI.

5. Intolerance to Other Sugars

Individuals with HFI may also have difficulty tolerating other sugars. Since the enzyme deficiency affects the metabolism of fructose, it can also impact the digestion of other sugars, such as sucrose and sorbitol. This can lead to additional gastrointestinal symptoms when consuming foods containing these sugars.

6. Dietary Restrictions

Managing HFI requires strict dietary restrictions. Individuals with HFI must avoid consuming fructose, sucrose, and sorbitol. This means avoiding foods and beverages high in fructose, such as fruits, honey, and high-fructose corn syrup. They must also be cautious of hidden sources of fructose in processed foods and medications. A dietitian experienced in managing HFI can help create a suitable meal plan to ensure proper nutrition while avoiding trigger foods.

It is important to note that the severity of symptoms can vary among individuals with HFI. Some may experience milder symptoms, while others may have more severe complications. Early diagnosis through genetic testing and close monitoring of symptoms are crucial for managing this rare genetic disorder.