ICD-10: E73.0

Congenital lactase deficiency, classified under ICD-10 code E73.0, is a rare genetic disorder characterized by the absence or severe reduction of lactase enzyme activity in the small intestine. This enzyme is crucial for the digestion of lactose, a sugar found in milk and dairy products. Below is a detailed overview of this condition, including its clinical description, symptoms, diagnosis, and management.

Clinical Description

Definition

Congenital lactase deficiency is a hereditary condition that results in the inability to properly digest lactose due to insufficient levels of lactase, the enzyme responsible for breaking down lactose into glucose and galactose. This deficiency is typically present from birth and is caused by mutations in the LCT gene, which encodes the lactase enzyme[9][12].

Pathophysiology

In individuals with congenital lactase deficiency, the lack of lactase leads to the accumulation of undigested lactose in the intestine. This undigested lactose is fermented by bacteria, resulting in the production of gases and organic acids, which can cause gastrointestinal symptoms[9][14].

Symptoms

The symptoms of congenital lactase deficiency usually manifest shortly after the ingestion of lactose-containing foods or beverages. Common symptoms include:

• Diarrhea: Watery stools due to osmotic diarrhea caused by unabsorbed lactose.
• Abdominal pain and cramping: Discomfort resulting from gas and bloating.
• Bloating and flatulence: Increased gas production from bacterial fermentation of lactose.
• Failure to thrive: In infants, this may present as poor weight gain and growth due to malabsorption of nutrients[4][10].

Diagnosis

Clinical Evaluation

Diagnosis of congenital lactase deficiency typically involves a combination of clinical evaluation and laboratory tests. Key diagnostic steps include:

• Clinical History: A detailed history of symptoms following lactose ingestion, particularly in infants.
• Lactose Tolerance Test: This test measures the body's response to lactose. A significant rise in blood glucose levels after lactose ingestion indicates normal lactase activity, while little to no increase suggests deficiency.
• Hydrogen Breath Test: This non-invasive test measures hydrogen levels in the breath after lactose ingestion. Elevated hydrogen levels indicate malabsorption of lactose[10][14].

Genetic Testing

In cases where congenital lactase deficiency is suspected, genetic testing can confirm mutations in the LCT gene, providing definitive diagnosis[12][14].

Management

Dietary Modifications

The primary management strategy for congenital lactase deficiency involves dietary modifications:

• Lactose-Free Diet: Individuals are advised to avoid lactose-containing foods, including milk and dairy products. Lactose-free alternatives are available and can be consumed safely.
• Calcium and Vitamin D Supplementation: Since dairy products are a primary source of calcium and vitamin D, supplementation may be necessary to prevent deficiencies[4][9].

Enzyme Replacement Therapy

While not commonly used for congenital lactase deficiency, enzyme replacement therapy with lactase supplements may help some individuals tolerate small amounts of lactose[10][14].

Conclusion

Congenital lactase deficiency is a genetic disorder that requires careful management to prevent gastrointestinal symptoms and nutritional deficiencies. Early diagnosis and dietary adjustments are crucial for improving the quality of life for affected individuals. Regular follow-up with healthcare providers can help ensure that nutritional needs are met and that any complications are addressed promptly.

Congenital lactase deficiency, classified under ICD-10 code E73.0, is a rare genetic disorder characterized by the inability to digest lactose due to a deficiency of the enzyme lactase. This condition typically presents in infancy and can lead to significant gastrointestinal symptoms. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with this condition.

Clinical Presentation

Onset and Symptoms

Congenital lactase deficiency usually manifests shortly after birth, often when the infant begins to consume lactose-containing formulas or breast milk. The symptoms can be quite severe and may include:

• Diarrhea: Frequent, watery stools are common due to the undigested lactose in the intestines.
• Abdominal Pain: Infants may exhibit signs of discomfort, such as crying or fussiness, particularly after feeding.
• Bloating and Gas: The fermentation of undigested lactose can lead to excessive gas production, causing bloating and distension of the abdomen.
• Failure to Thrive: Due to malabsorption of nutrients, affected infants may not gain weight appropriately, leading to growth delays.

Signs

Upon examination, healthcare providers may observe:

• Dehydration: Resulting from persistent diarrhea, infants may show signs of dehydration, such as dry mucous membranes and decreased urine output.
• Malnutrition: Prolonged symptoms can lead to signs of malnutrition, including muscle wasting and a lack of subcutaneous fat.
• Electrolyte Imbalance: Diarrhea can cause imbalances in electrolytes, which may be evident in laboratory tests.

Patient Characteristics

Demographics

Congenital lactase deficiency is a genetic condition that can affect individuals of any ethnicity, but it is particularly noted in certain populations. The following characteristics are often observed:

• Age: Symptoms typically present in newborns or infants, usually within the first few weeks of life.
• Family History: A positive family history of lactose intolerance or related gastrointestinal disorders may be present, indicating a genetic predisposition.

Genetic Factors

Congenital lactase deficiency is inherited in an autosomal recessive manner, meaning that both parents must carry the gene mutation for a child to be affected. Genetic testing can confirm the diagnosis by identifying mutations in the lactase gene (LCT).

Conclusion

Congenital lactase deficiency (ICD-10 code E73.0) is a serious condition that requires prompt recognition and management. The clinical presentation is characterized by gastrointestinal symptoms such as diarrhea, abdominal pain, and failure to thrive, which can significantly impact an infant's health. Early diagnosis and dietary management, typically involving the elimination of lactose from the diet, are crucial for preventing complications and ensuring proper growth and development in affected infants. If you suspect a case of congenital lactase deficiency, it is essential to consult a healthcare professional for appropriate evaluation and management.

Congenital lactase deficiency, classified under ICD-10 code E73.0, is a condition characterized by the inability to digest lactose due to a deficiency of the enzyme lactase. This condition can be referred to by several alternative names and related terms, which help in understanding its clinical implications and associations. Below are some of the most common alternative names and related terms for this condition:

Alternative Names

1. Congenital Lactose Intolerance: This term emphasizes the intolerance aspect of the condition, highlighting the body's inability to process lactose from birth.
2. Congenital Lactase Deficiency Syndrome: This name reflects the syndrome-like nature of the condition, indicating a collection of symptoms associated with lactase deficiency.
3. Hereditary Lactase Deficiency: This term underscores the genetic basis of the condition, as it is often inherited in an autosomal recessive manner.
4. Primary Lactase Deficiency: While this term can refer to lactase deficiency that develops later in life, it is sometimes used interchangeably with congenital forms when discussing the absence of lactase from birth.

Related Terms

1. Lactose Malabsorption: This broader term refers to the inability to absorb lactose, which can occur in various forms of lactase deficiency, including congenital.
2. Lactose Intolerance: Although typically used to describe acquired forms of lactase deficiency, it can also apply to congenital cases in a general sense.
3. Lactase Non-Persistence: This term is often used to describe the condition where lactase production decreases after weaning, but it can also relate to congenital forms when discussing the absence of lactase from infancy.
4. Intestinal Lactase Deficiency: This term specifies the location of the deficiency, indicating that the enzyme is lacking in the intestinal lining.

Clinical Context

Congenital lactase deficiency is a rare condition, and understanding its alternative names and related terms can aid healthcare professionals in diagnosing and managing the condition effectively. It is essential to differentiate it from secondary lactase deficiency, which can occur due to other gastrointestinal diseases or conditions.

In summary, recognizing the various names and terms associated with ICD-10 code E73.0 can enhance communication among healthcare providers and improve patient education regarding this genetic disorder.

Congenital lactase deficiency, classified under the ICD-10-CM code E73.0, is a rare genetic disorder characterized by the inability to produce sufficient amounts of lactase, the enzyme responsible for breaking down lactose, a sugar found in milk and dairy products. The diagnosis of this condition involves several criteria and considerations, which are outlined below.

Clinical Presentation

Symptoms

Patients with congenital lactase deficiency typically present with symptoms shortly after birth, particularly when they begin to consume lactose-containing formulas or breast milk. Common symptoms include:

• Severe diarrhea: Often watery and can lead to dehydration.
• Abdominal pain and bloating: Due to the fermentation of undigested lactose in the intestines.
• Failure to thrive: In infants, this may manifest as poor weight gain and growth.

Family History

A detailed family history is crucial, as congenital lactase deficiency is inherited in an autosomal recessive manner. If there is a known family history of lactose intolerance or related gastrointestinal issues, this may support the diagnosis.

Diagnostic Testing

Lactose Tolerance Test

This test measures the body's response to lactose. In individuals with congenital lactase deficiency, the ingestion of lactose will typically result in:

• Increased blood glucose levels: This is usually absent or significantly lower in affected individuals, indicating poor absorption of lactose.
• Symptoms: The patient may experience gastrointestinal symptoms after lactose ingestion.

Genetic Testing

Genetic testing can confirm the diagnosis by identifying mutations in the LCT gene, which encodes the lactase enzyme. This is particularly useful in cases where the clinical presentation is ambiguous or when differentiating between congenital lactase deficiency and other forms of lactose intolerance.

Stool Tests

Stool tests can be performed to check for:

• Reducing substances: The presence of unabsorbed lactose in the stool can indicate lactase deficiency.
• pH levels: A lower pH in the stool may suggest fermentation of lactose by bacteria, leading to the production of lactic acid.

Differential Diagnosis

It is essential to differentiate congenital lactase deficiency from other conditions that may cause similar symptoms, such as:

• Acquired lactose intolerance: More common and can develop later in life.
• Infections: Gastroenteritis can mimic symptoms of lactose intolerance.
• Other metabolic disorders: Conditions that affect nutrient absorption should also be considered.

Conclusion

The diagnosis of congenital lactase deficiency (ICD-10 code E73.0) relies on a combination of clinical symptoms, family history, and specific diagnostic tests. Early identification is crucial to manage the condition effectively, typically through dietary modifications to eliminate lactose from the diet. If you suspect congenital lactase deficiency, consulting a healthcare professional for appropriate testing and management is essential.

Congenital lactase deficiency, classified under ICD-10 code E73.0, is a rare genetic disorder characterized by the inability to produce sufficient amounts of lactase, the enzyme responsible for breaking down lactose, a sugar found in milk and dairy products. This condition can lead to significant gastrointestinal symptoms when lactose is ingested, including diarrhea, abdominal pain, and bloating. Understanding the standard treatment approaches for this condition is crucial for managing symptoms and ensuring nutritional adequacy.

Dietary Management

Lactose-Free Diet

The cornerstone of managing congenital lactase deficiency is the implementation of a lactose-free diet. This involves the complete avoidance of lactose-containing foods, primarily dairy products. Patients are encouraged to substitute regular milk and dairy with lactose-free alternatives, such as:

• Lactose-free milk: This is regular milk treated with lactase to break down lactose.
• Plant-based milk alternatives: Options like almond, soy, oat, and coconut milk can provide similar nutritional benefits without lactose.
• Lactose-free yogurt and cheese: These products are specifically processed to remove lactose.

Nutritional Considerations

Since dairy products are significant sources of calcium and vitamin D, individuals with congenital lactase deficiency must ensure they receive these nutrients from other sources. Recommended alternatives include:

• Leafy green vegetables: Such as kale and broccoli, which are high in calcium.
• Fortified foods: Many plant-based milks and juices are fortified with calcium and vitamin D.
• Supplements: Calcium and vitamin D supplements may be necessary to meet daily requirements, especially in children.

Enzyme Replacement Therapy

While there is currently no enzyme replacement therapy specifically approved for congenital lactase deficiency, some patients may benefit from the use of lactase enzyme supplements. These supplements can help digest lactose when taken before consuming lactose-containing foods. However, their effectiveness can vary, and they are not a substitute for a lactose-free diet.

Monitoring and Support

Regular Follow-ups

Patients diagnosed with congenital lactase deficiency should have regular follow-ups with healthcare providers, including pediatricians and dietitians, to monitor growth, nutritional status, and adherence to dietary recommendations. This is particularly important in children, as proper nutrition is vital for their development.

Education and Counseling

Education about the condition and dietary management is essential for patients and their families. Counseling can help them understand how to read food labels, identify hidden sources of lactose, and make informed dietary choices.

Conclusion

In summary, the standard treatment approaches for congenital lactase deficiency (ICD-10 code E73.0) primarily focus on dietary management through a strict lactose-free diet, ensuring adequate nutritional intake, and providing education and support to patients and their families. Regular monitoring and potential use of lactase enzyme supplements can further assist in managing symptoms. By adhering to these strategies, individuals with congenital lactase deficiency can lead healthy, symptom-free lives.