ICD-10: E75.21

Fabry disease, classified under the ICD-10-CM code E75.21, is a rare genetic disorder that affects the body's ability to break down a specific type of fat, leading to a buildup of globotriaosylceramide (Gb3) in various tissues. This accumulation can cause a range of symptoms, including pain, kidney dysfunction, and cardiovascular issues. Below are alternative names and related terms associated with Fabry disease.

Alternative Names for Fabry Disease

1. Anderson-Fabry Disease: This name reflects the contributions of both William Anderson and Johannes Fabry, who were instrumental in the disease's identification.
2. Fabry's Disease: A common variation in naming that retains the original surname of the disease's discoverer.
3. Alpha-Galactosidase A Deficiency: This term highlights the enzyme deficiency that is central to the pathology of Fabry disease.
4. GLA Deficiency: Referring to the gene responsible for producing the alpha-galactosidase A enzyme, which is deficient in individuals with Fabry disease.

Related Terms and Concepts

1. X-Linked Recessive Inheritance: Fabry disease is inherited in this manner, meaning it primarily affects males, although females can also be carriers and exhibit symptoms.
2. Lysosomal Storage Disorder: Fabry disease is classified as a lysosomal storage disorder due to the accumulation of substances within lysosomes.
3. Cardiovascular Manifestations: Many patients experience heart-related issues, including hypertrophic cardiomyopathy and arrhythmias.
4. Renal Impairment: Kidney dysfunction is a significant complication of Fabry disease, often leading to end-stage renal disease.
5. Neuropathic Pain: A common symptom of Fabry disease, often described as burning or tingling sensations in the extremities.
6. Enzyme Replacement Therapy (ERT): A common treatment for Fabry disease, involving the administration of the missing enzyme to reduce symptoms and complications.
7. Globotriaosylceramide (Gb3): The substrate that accumulates in the tissues of individuals with Fabry disease due to the enzyme deficiency.

Conclusion

Understanding the alternative names and related terms for Fabry disease is crucial for healthcare professionals, researchers, and patients alike. This knowledge aids in accurate diagnosis, treatment planning, and patient education. If you have further questions or need more specific information about Fabry disease, feel free to ask!

Fabry disease, classified under ICD-10 code E75.21, is a rare genetic disorder resulting from the deficiency of the enzyme alpha-galactosidase A. This deficiency leads to the accumulation of globotriaosylceramide (Gb3) in various tissues, causing a range of symptoms including pain, kidney dysfunction, and cardiovascular issues. The management of Fabry disease typically involves several standard treatment approaches aimed at alleviating symptoms and addressing the underlying enzyme deficiency.

Standard Treatment Approaches

1. Enzyme Replacement Therapy (ERT)

Overview: The cornerstone of treatment for Fabry disease is Enzyme Replacement Therapy (ERT). This therapy involves the intravenous administration of recombinant alpha-galactosidase A, which helps to reduce the accumulation of Gb3 in the body.

Medications: The most commonly used ERTs include:
- Agalsidase beta (Fabrazyme): This is the most widely used ERT for Fabry disease, approved for use in both adults and children. It has been shown to improve kidney function, reduce pain, and enhance overall quality of life[2][3].
- Agalsidase alpha (Replagal): Another ERT option, though less commonly used in some regions compared to agalsidase beta.

Efficacy: Clinical studies have demonstrated that ERT can significantly improve symptoms and slow disease progression, particularly in the kidneys and heart[1][4].

2. Symptomatic Treatment

Pain Management: Many patients with Fabry disease experience neuropathic pain. Treatment options may include:
- Analgesics: Over-the-counter pain relievers or prescription medications for more severe pain.
- Anticonvulsants: Medications such as gabapentin or pregabalin can be effective for neuropathic pain management.

Kidney Care: Regular monitoring of kidney function is essential. In cases of significant renal impairment, patients may require:
- Dialysis: For those with end-stage renal disease.
- Kidney Transplant: In severe cases where kidney function is critically compromised.

Cardiovascular Management: Patients are at increased risk for cardiovascular complications. Management may include:
- Antihypertensives: To control blood pressure.
- Statins: To manage cholesterol levels and reduce cardiovascular risk.

3. Genetic Counseling

Given that Fabry disease is an X-linked genetic disorder, genetic counseling is recommended for affected individuals and their families. This can help in understanding the inheritance pattern, implications for family members, and reproductive options.

4. Clinical Trials and Emerging Therapies

Research is ongoing to explore new treatment modalities, including:
- Chaperone Therapy: This approach aims to stabilize the deficient enzyme and enhance its function.
- Gene Therapy: Investigational therapies are being developed to correct the underlying genetic defect.

5. Regular Monitoring and Multidisciplinary Care

Patients with Fabry disease require regular follow-up with a multidisciplinary team, including:
- Nephrologists: For kidney health.
- Cardiologists: For heart health.
- Pain specialists: For effective pain management.
- Psychologists or counselors: To support mental health and coping strategies.

Conclusion

The management of Fabry disease (ICD-10 code E75.21) primarily revolves around Enzyme Replacement Therapy, which has proven effective in mitigating symptoms and slowing disease progression. Symptomatic treatments, genetic counseling, and ongoing research into new therapies further enhance patient care. Regular monitoring and a multidisciplinary approach are crucial for optimizing health outcomes and improving the quality of life for individuals affected by this condition. As research continues, new treatment options may emerge, offering hope for better management of Fabry disease in the future.

Fabry disease, also known as Anderson-Fabry disease, is a rare genetic disorder classified under the ICD-10-CM code E75.21. This condition is part of a group of diseases known as lysosomal storage disorders, which are caused by the deficiency of specific enzymes that lead to the accumulation of certain substances in the body. Below is a detailed clinical description and relevant information regarding Fabry disease.

Overview of Fabry Disease

Genetic Basis

Fabry disease is caused by mutations in the GLA gene, which encodes the enzyme alpha-galactosidase A. This enzyme is crucial for the breakdown of a fatty substance called globotriaosylceramide (Gb3). When the enzyme is deficient or absent, Gb3 accumulates in various tissues, leading to a range of symptoms and complications.

Inheritance Pattern

Fabry disease follows an X-linked recessive inheritance pattern, meaning that it primarily affects males, although females can also be affected, often with milder symptoms due to the presence of a second X chromosome.

Clinical Features

Symptoms

The symptoms of Fabry disease can vary widely among individuals and may include:

• Pain: Patients often experience episodes of severe pain, known as acroparesthesia, particularly in the hands and feet.
• Skin Manifestations: A characteristic feature is the presence of angiokeratomas, which are small, dark red spots that appear on the skin, particularly in the lower trunk and groin area.
• Gastrointestinal Issues: Many patients report gastrointestinal symptoms, including abdominal pain, diarrhea, and nausea.
• Ocular Symptoms: Patients may develop corneal opacities and cataracts, which can affect vision.
• Cardiovascular Complications: Fabry disease can lead to serious heart issues, including hypertrophic cardiomyopathy, arrhythmias, and heart failure.
• Renal Impairment: Progressive kidney disease is common, often leading to end-stage renal disease requiring dialysis or transplantation.

Diagnosis

Diagnosis of Fabry disease typically involves:

• Clinical Evaluation: Assessment of symptoms and family history.
• Enzyme Activity Testing: Measurement of alpha-galactosidase A enzyme activity in blood or tissue samples.
• Genetic Testing: Identification of mutations in the GLA gene can confirm the diagnosis.

Treatment Options

Enzyme Replacement Therapy (ERT)

The primary treatment for Fabry disease is enzyme replacement therapy (ERT), which aims to supplement the deficient enzyme. Two main ERT options are:

• Fabrazyme® (agalsidase beta): Administered bi-weekly via intravenous infusion, this treatment helps reduce Gb3 accumulation and alleviate symptoms.
• Elfabrio® (pegunigalsidase alfa-iwxj): A newer ERT option that may offer benefits in terms of dosing frequency and efficacy.

Supportive Care

In addition to ERT, supportive care is essential and may include:

• Pain Management: Medications to manage pain and discomfort.
• Cardiovascular Monitoring: Regular assessments to monitor heart function and manage complications.
• Renal Care: Monitoring kidney function and preparing for potential renal replacement therapy.

Prognosis

With early diagnosis and appropriate treatment, individuals with Fabry disease can lead improved quality of life and potentially extend life expectancy. However, untreated patients may experience significant morbidity due to progressive organ damage.

Conclusion

Fabry disease (ICD-10 code E75.21) is a complex genetic disorder with a range of clinical manifestations affecting multiple organ systems. Early recognition and intervention through enzyme replacement therapy and supportive care are crucial for managing symptoms and preventing complications. Ongoing research continues to explore new treatment options and strategies to improve outcomes for affected individuals.

Fabry disease, also known as Anderson-Fabry disease, is a rare genetic disorder that results from the deficiency of the enzyme alpha-galactosidase A. This deficiency leads to the accumulation of globotriaosylceramide (Gb3) in various tissues, causing a range of clinical manifestations. Below, we explore the clinical presentation, signs, symptoms, and patient characteristics associated with Fabry disease, particularly in the context of the ICD-10 code E75.21.

Clinical Presentation

Fabry disease typically presents in childhood or early adulthood, although symptoms can vary widely among individuals. The disease is characterized by a progressive course, with symptoms often worsening over time. The clinical presentation can be categorized into several key areas:

1. Dermatological Symptoms

• Angiokeratomas: Small, dark red or purple spots that appear on the skin, particularly in the lower trunk and genital area. These lesions are often one of the earliest signs of the disease.
• Hypohidrosis: Reduced ability to sweat, leading to heat intolerance and increased risk of overheating.

2. Neurological Symptoms

• Pain Episodes: Patients frequently experience episodes of severe pain, known as acroparesthesia, which typically affects the hands and feet. This pain can be triggered by temperature changes or physical exertion.
• Neuropathy: Peripheral neuropathy may develop, leading to numbness, tingling, or weakness in the extremities.

3. Cardiovascular Symptoms

• Cardiomyopathy: Many patients develop hypertrophic cardiomyopathy, which can lead to heart failure and arrhythmias.
• Coronary Artery Disease: Increased risk of early-onset coronary artery disease, often leading to myocardial infarction.

4. Renal Symptoms

• Kidney Dysfunction: Progressive renal impairment is common, with many patients developing end-stage renal disease by middle age. Symptoms may include proteinuria and hypertension.

5. Gastrointestinal Symptoms

• Abdominal Pain: Patients may experience gastrointestinal issues, including abdominal pain, diarrhea, and constipation.

Signs and Symptoms

The signs and symptoms of Fabry disease can be diverse and may include:

• Skin: Angiokeratomas, hypohidrosis, and corneal opacities.
• Neurological: Acroparesthesia, neuropathic pain, and potential cognitive impairment.
• Cardiovascular: Signs of heart failure, arrhythmias, and abnormal electrocardiogram (ECG) findings.
• Renal: Elevated creatinine levels, proteinuria, and signs of chronic kidney disease.
• Gastrointestinal: Symptoms of dysmotility, including abdominal pain and altered bowel habits.

Patient Characteristics

Fabry disease affects both males and females, but the severity and onset of symptoms can differ significantly between genders due to X-linked inheritance patterns. Key patient characteristics include:

• Age of Onset: Symptoms often begin in childhood or adolescence, but some patients may not be diagnosed until adulthood.
• Family History: A positive family history of Fabry disease is common, as it is inherited in an X-linked manner. Males are typically more severely affected than females.
• Ethnicity: While Fabry disease can occur in any ethnic group, certain populations may have higher prevalence rates.

Conclusion

Fabry disease is a complex condition with a wide range of clinical manifestations that can significantly impact the quality of life. Early recognition of symptoms, particularly the characteristic skin lesions and pain episodes, is crucial for timely diagnosis and management. Given the progressive nature of the disease, ongoing monitoring and a multidisciplinary approach to treatment are essential for improving patient outcomes. If you suspect Fabry disease in a patient, consider genetic testing and referral to a specialist for comprehensive care.

Fabry disease, also known as Anderson-Fabry disease, is a rare genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A. This deficiency leads to the accumulation of globotriaosylceramide (Gb3) in various tissues, resulting in a range of symptoms and complications. The diagnosis of Fabry disease, particularly for the ICD-10 code E75.21, involves a combination of clinical criteria, biochemical tests, and genetic analysis.

Clinical Criteria for Diagnosis

1. Symptoms and Clinical Presentation

• Classic Symptoms: Patients often present with a variety of symptoms, including:
  • Pain: Episodes of severe pain (acroparesthesia) in the hands and feet.
  • Skin Manifestations: Angiokeratomas (small, dark red spots) typically located in the lower trunk and genital area.
  • Gastrointestinal Issues: Symptoms such as abdominal pain, diarrhea, and nausea.
  • Ocular Symptoms: Corneal opacities and lens opacities can occur, leading to vision problems.
• Progressive Complications: Over time, patients may develop more severe complications, including renal failure, cardiac issues (such as hypertrophic cardiomyopathy), and cerebrovascular events.

2. Family History

• A positive family history of Fabry disease can support the diagnosis, especially in males, as the disease is X-linked. Family members may also exhibit symptoms or have a confirmed diagnosis.

Biochemical Testing

1. Enzyme Activity Assay

• The definitive biochemical test for Fabry disease is the measurement of alpha-galactosidase A enzyme activity in plasma or leukocytes. A significantly reduced enzyme activity level is indicative of the disease.
• In males, enzyme activity is typically absent or severely reduced, while females may have variable enzyme activity due to X-inactivation.

2. Urinary Gb3 Levels

• Elevated levels of globotriaosylceramide in urine can also support the diagnosis, although this test is less specific than enzyme activity assays.

Genetic Testing

1. Mutation Analysis

• Genetic testing can confirm the diagnosis by identifying mutations in the GLA gene, which encodes the alpha-galactosidase A enzyme. This is particularly useful in cases where enzyme activity is borderline or in female patients where symptoms may be less pronounced.

Diagnostic Criteria Summary

To summarize, the diagnosis of Fabry disease (ICD-10 code E75.21) typically involves:
- Clinical evaluation: Assessment of symptoms and family history.
- Biochemical tests: Measurement of alpha-galactosidase A enzyme activity and urinary Gb3 levels.
- Genetic testing: Identification of mutations in the GLA gene.

These criteria help healthcare providers confirm the diagnosis and differentiate Fabry disease from other lysosomal storage disorders or conditions with similar presentations.

Conclusion

Fabry disease is a complex condition that requires a multifaceted approach for diagnosis. By combining clinical observations, biochemical tests, and genetic analysis, healthcare professionals can accurately diagnose this rare disorder, allowing for timely management and treatment options. If you suspect Fabry disease based on symptoms or family history, it is essential to consult a healthcare provider for appropriate testing and evaluation.