ICD-10: E74.02

Pompe disease, classified under ICD-10 code E74.02, is a rare genetic disorder caused by the deficiency of the enzyme acid alpha-glucosidase. This deficiency leads to the accumulation of glycogen in the lysosomes, affecting various tissues, particularly muscle and heart tissues. Understanding the clinical presentation, signs, symptoms, and patient characteristics is crucial for timely diagnosis and management.

Clinical Presentation

Pompe disease can manifest in two primary forms: infantile-onset and late-onset. The clinical presentation varies significantly between these forms.

Infantile-Onset Pompe Disease

• Age of Onset: Symptoms typically appear within the first few months of life.
• Muscle Weakness: Infants often present with hypotonia (decreased muscle tone) and progressive muscle weakness, particularly affecting the proximal muscles.
• Cardiomyopathy: A significant feature is hypertrophic cardiomyopathy, which can lead to heart failure if untreated.
• Respiratory Issues: Infants may experience respiratory distress due to weakened respiratory muscles.
• Feeding Difficulties: Poor feeding and failure to thrive are common due to muscle weakness.

Late-Onset Pompe Disease

• Age of Onset: Symptoms can appear anytime from childhood to adulthood, often after the first year of life.
• Progressive Muscle Weakness: Patients may experience gradual muscle weakness, particularly in the proximal muscles of the limbs and trunk.
• Respiratory Complications: Respiratory muscle weakness can lead to sleep apnea and respiratory failure.
• Skeletal Muscle Involvement: Patients may develop myopathy, leading to difficulty in walking and climbing stairs.
• Cardiac Symptoms: While less common than in the infantile form, some patients may still experience cardiac issues.

Signs and Symptoms

The signs and symptoms of Pompe disease can be categorized based on the age of onset:

Common Signs and Symptoms

• Muscle Weakness: Both forms present with varying degrees of muscle weakness, particularly in the proximal muscles.
• Fatigue: Patients often report increased fatigue with exertion.
• Respiratory Complications: Difficulty breathing, especially during sleep, is common due to respiratory muscle involvement.
• Cardiac Issues: Hypertrophic cardiomyopathy is a hallmark of infantile-onset disease, while late-onset patients may have less severe cardiac involvement.
• Gait Abnormalities: Patients may exhibit waddling gait or difficulty with balance.

Additional Symptoms in Late-Onset Cases

• Skeletal Deformities: Some patients may develop scoliosis or other skeletal deformities due to muscle weakness.
• Hearing Loss: There may be an association with hearing impairment in some patients.

Patient Characteristics

Demographics

• Genetic Background: Pompe disease is inherited in an autosomal recessive manner, meaning both parents must carry the mutated gene for a child to be affected.
• Prevalence: It affects both genders equally and is found in various ethnic groups, though certain populations may have higher carrier rates.

Diagnostic Considerations

• Family History: A family history of Pompe disease or related symptoms can be a significant indicator.
• Enzyme Testing: Diagnosis is confirmed through enzyme assays showing reduced levels of acid alpha-glucosidase.
• Genetic Testing: Molecular genetic testing can identify mutations in the GAA gene responsible for the disease.

Conclusion

Pompe disease, particularly under ICD-10 code E74.02, presents with a range of clinical features that vary significantly between infantile and late-onset forms. Early recognition of symptoms such as muscle weakness, respiratory difficulties, and cardiac issues is essential for timely intervention. Genetic counseling and enzyme replacement therapy are critical components of management, emphasizing the importance of understanding the clinical presentation and patient characteristics associated with this condition.

Pompe disease, classified under ICD-10-CM code E74.02, is a rare genetic disorder caused by the deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is crucial for the breakdown of glycogen, a stored form of glucose, into glucose that the body can use for energy. The accumulation of glycogen in various tissues, particularly in muscle cells, leads to the symptoms and complications associated with the disease.

Clinical Description

Types of Pompe Disease

Pompe disease is categorized into two main forms based on the age of onset:

1. Infantile-Onset Pompe Disease:
   - Symptoms typically appear within the first few months of life.
   - Characterized by severe muscle weakness (hypotonia), respiratory difficulties, and cardiomyopathy (enlarged heart).
   - Without treatment, infants may not survive past the first year of life due to respiratory failure or heart complications.

2. Late-Onset Pompe Disease:
   - Symptoms can manifest anytime from childhood to adulthood.
   - Patients may experience progressive muscle weakness, particularly in the proximal muscles (those closer to the center of the body), and respiratory issues.
   - The progression of symptoms is generally slower compared to the infantile form, and individuals may have a normal lifespan with appropriate management.

Symptoms

Common symptoms of Pompe disease include:
- Muscle weakness and fatigue
- Difficulty in breathing or shortness of breath
- Enlarged heart (cardiomegaly)
- Delayed motor skills in infants
- Frequent respiratory infections
- Difficulty swallowing

Diagnosis

Diagnosis of Pompe disease typically involves:
- Clinical Evaluation: Assessment of symptoms and family history.
- Enzyme Activity Testing: Measurement of GAA enzyme activity in blood or tissue samples.
- Genetic Testing: Identification of mutations in the GAA gene.
- Imaging Studies: Echocardiograms or MRI may be used to assess heart size and muscle involvement.

Treatment

The primary treatment for Pompe disease is enzyme replacement therapy (ERT), specifically with the drug Lumizyme® (alglucosidase alfa). This therapy aims to replace the deficient enzyme, helping to reduce glycogen accumulation and improve muscle function. Early initiation of ERT, especially in infantile cases, is crucial for better outcomes.

Management Strategies

In addition to ERT, management may include:
- Physical Therapy: To improve muscle strength and function.
- Respiratory Support: Such as non-invasive ventilation for those with respiratory difficulties.
- Nutritional Support: To ensure adequate caloric intake and manage feeding difficulties.

Prognosis

The prognosis for individuals with Pompe disease varies significantly based on the age of onset and the timeliness of treatment. Early intervention, particularly in infantile cases, can lead to improved survival rates and quality of life. Late-onset patients may experience a more gradual decline in muscle function but can often maintain a reasonable quality of life with ongoing treatment and support.

In summary, Pompe disease (ICD-10 code E74.02) is a serious genetic disorder that requires early diagnosis and comprehensive management to optimize patient outcomes. The availability of enzyme replacement therapy has significantly changed the landscape of treatment, offering hope for affected individuals and their families.

Pompe disease, classified under ICD-10 code E74.02, is a rare genetic disorder that affects the body's ability to break down glycogen due to a deficiency in the enzyme acid alpha-glucosidase (GAA). This condition is part of a broader category of glycogen storage diseases. Below are alternative names and related terms associated with Pompe disease.

Alternative Names for Pompe Disease

1. Glycogen Storage Disease Type II (GSD II): This is the most common alternative name, as Pompe disease is classified as a type of glycogen storage disease.
2. Acid Maltase Deficiency: This name refers to the specific enzyme deficiency that characterizes the disease.
3. Pompe's Disease: A variation of the name that honors the Dutch physician Johannes Pompe, who first described the condition.
4. Infantile Pompe Disease: This term is used to describe the early-onset form of the disease, which typically presents in infancy and is more severe.
5. Late-Onset Pompe Disease: This refers to the form of the disease that manifests later in childhood or adulthood, often with milder symptoms.

Related Terms

1. Glycogen Storage Disease: A broader category that includes several disorders caused by enzyme deficiencies affecting glycogen metabolism.
2. Acid Alpha-Glucosidase Deficiency: The specific enzyme deficiency that leads to the accumulation of glycogen in the body's tissues.
3. Myopathy: Refers to the muscle weakness and dysfunction that can occur in individuals with Pompe disease.
4. Cardiomyopathy: A common complication of Pompe disease, particularly in its infantile form, where heart muscle becomes enlarged and weakened.
5. Enzyme Replacement Therapy (ERT): A treatment approach for Pompe disease that involves administering the missing enzyme to help manage symptoms and improve quality of life.

Conclusion

Understanding the alternative names and related terms for Pompe disease is crucial for healthcare professionals, researchers, and patients alike. These terms not only facilitate better communication but also enhance awareness of the condition and its implications. If you have further questions or need more specific information about Pompe disease, feel free to ask!

Pompe disease, classified under the ICD-10-CM code E74.02, is a rare genetic disorder caused by the deficiency of the enzyme acid alpha-glucosidase (GAA). This deficiency leads to the accumulation of glycogen in the lysosomes, resulting in various clinical manifestations. The diagnosis of Pompe disease involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Below are the key criteria used for diagnosis:

Clinical Criteria

1. Symptoms and Signs:
   - Infantile-Onset Pompe Disease: Symptoms typically appear within the first year of life and may include hypotonia (decreased muscle tone), progressive weakness, cardiomyopathy (enlarged heart), and respiratory difficulties.
   - Late-Onset Pompe Disease: Symptoms can manifest later in childhood or adulthood, often presenting as progressive muscle weakness, respiratory issues, and mobility challenges without significant cardiac involvement.

2. Family History: A family history of Pompe disease or related lysosomal storage disorders can support the diagnosis, especially in cases where symptoms are not immediately apparent.

Biochemical Testing

1. Enzyme Activity Assay:
   - Measurement of GAA enzyme activity in blood, muscle, or skin fibroblasts is crucial. A significantly reduced or absent GAA activity confirms the diagnosis of Pompe disease.

2. Glycogen Accumulation:
   - Muscle biopsy may reveal excessive glycogen accumulation in muscle fibers, which is indicative of Pompe disease.

Genetic Testing

1. Mutation Analysis:
   - Genetic testing to identify mutations in the GAA gene can confirm the diagnosis. The presence of pathogenic variants in this gene is definitive for Pompe disease.

Additional Diagnostic Tools

1. Imaging Studies:
   - Cardiac imaging (e.g., echocardiogram) may be performed to assess for cardiomyopathy, particularly in infantile-onset cases.

2. Pulmonary Function Tests:
   - In late-onset cases, pulmonary function tests may be conducted to evaluate respiratory muscle involvement.

Conclusion

The diagnosis of Pompe disease (ICD-10 code E74.02) is multifaceted, relying on clinical presentation, biochemical assays, and genetic testing. Early diagnosis is critical for effective management and treatment, particularly with enzyme replacement therapy, which can significantly improve outcomes for affected individuals. If you suspect Pompe disease, it is essential to consult a healthcare professional for comprehensive evaluation and testing.

Pompe disease, classified under ICD-10 code E74.02, is a rare genetic disorder caused by the deficiency of the enzyme acid alpha-glucosidase (GAA). This deficiency leads to the accumulation of glycogen in the body's cells, particularly affecting muscle and nerve tissues. The treatment approaches for Pompe disease vary based on the age of onset and severity of the condition, but they primarily focus on enzyme replacement therapy (ERT) and supportive care.

Enzyme Replacement Therapy (ERT)

Myozyme and Lumizyme

The cornerstone of treatment for Pompe disease is enzyme replacement therapy, which involves the administration of recombinant human GAA. Two formulations are commonly used:

1. Myozyme: Approved for use in infants and children with infantile-onset Pompe disease. It is administered intravenously and helps to reduce glycogen accumulation in the muscles and improve muscle function[1][2].

2. Lumizyme: This formulation is specifically for patients with late-onset Pompe disease. It is also given intravenously and has been shown to improve respiratory function and overall muscle strength in older patients[3][4].

Treatment Regimen

The typical regimen for ERT involves biweekly infusions, with the dosage tailored to the patient's weight and clinical response. Regular monitoring of enzyme levels and clinical symptoms is essential to assess the effectiveness of the treatment and make necessary adjustments[5].

Supportive Care

Physical Therapy

Physical therapy plays a crucial role in managing Pompe disease. It helps maintain muscle strength and function, improve mobility, and enhance the quality of life. Tailored exercise programs can help patients manage fatigue and prevent muscle atrophy[6].

Respiratory Support

As Pompe disease progresses, respiratory muscle weakness can occur, necessitating interventions such as non-invasive ventilation or, in severe cases, tracheostomy. Regular monitoring of respiratory function is vital to ensure timely intervention[7].

Nutritional Support

Patients with Pompe disease may experience feeding difficulties, particularly in infants. Nutritional support, including specialized diets or feeding tubes, may be required to ensure adequate caloric intake and prevent malnutrition[8].

Emerging Therapies

Research is ongoing to explore additional treatment options for Pompe disease, including gene therapy and pharmacological chaperones that may enhance the activity of the residual enzyme. These approaches aim to provide more comprehensive treatment options and improve outcomes for patients with varying degrees of enzyme deficiency[9][10].

Conclusion

The management of Pompe disease under ICD-10 code E74.02 primarily revolves around enzyme replacement therapy, which has significantly improved the prognosis for many patients. Supportive care, including physical therapy, respiratory support, and nutritional management, is also critical in enhancing the quality of life for individuals affected by this condition. Ongoing research into new therapies holds promise for further advancements in treatment options for Pompe disease. Regular follow-up and a multidisciplinary approach are essential to optimize care for patients with this complex disorder.