ICD-10: E75.240

Niemann-Pick disease type A (NPDA) is a rare, inherited lysosomal storage disorder characterized by the accumulation of sphingomyelin due to a deficiency of the enzyme sphingomyelinase. This condition primarily affects the metabolism of lipids, leading to various clinical manifestations.

Clinical Description

Pathophysiology

Niemann-Pick disease type A is caused by mutations in the SMPD1 gene, which encodes the enzyme acid sphingomyelinase. The deficiency of this enzyme results in the accumulation of sphingomyelin in various tissues, particularly in the liver, spleen, and brain. This accumulation leads to cellular dysfunction and the progressive symptoms associated with the disease.

Symptoms

The clinical presentation of NPDA typically manifests in infancy or early childhood and may include:

• Hepatosplenomegaly: Enlargement of the liver and spleen is often one of the first signs, usually noticeable by the age of 3 to 6 months.
• Neurological Decline: Children may experience developmental delays, loss of motor skills, and neurological deterioration, which can lead to severe cognitive impairment.
• Failure to Thrive: Affected infants may have difficulty feeding and show poor growth.
• Cherry-Red Spot: A characteristic finding in the retina, visible during an eye examination, is often associated with NPDA.
• Respiratory Issues: As the disease progresses, respiratory complications may arise due to lung involvement.

Prognosis

Niemann-Pick disease type A is a progressive condition, and affected individuals typically do not survive beyond early childhood, often succumbing to complications such as respiratory failure or infections. The prognosis is generally poor, with most children not living past the age of 3 to 4 years.

Diagnosis

Diagnosis of NPDA is based on clinical evaluation, family history, and biochemical testing. Enzyme assays can confirm the deficiency of sphingomyelinase, and genetic testing can identify mutations in the SMPD1 gene. Imaging studies, such as ultrasound or MRI, may be used to assess organ involvement.

ICD-10 Code

The ICD-10 code for Niemann-Pick disease type A is E75.240. This code falls under the category of "Other lipid storage disorders," specifically detailing the type A variant of Niemann-Pick disease. Accurate coding is essential for proper documentation, billing, and epidemiological tracking of this rare condition.

Conclusion

Niemann-Pick disease type A is a severe genetic disorder with significant clinical implications, primarily affecting infants and young children. Early diagnosis and supportive care are crucial, although the prognosis remains grim due to the progressive nature of the disease. Understanding the clinical features and proper coding of NPDA is essential for healthcare providers involved in the management of affected patients.

Niemann-Pick disease type A (NPDA) is a rare, inherited lysosomal storage disorder characterized by the accumulation of sphingomyelin due to a deficiency in the enzyme sphingomyelinase. This condition primarily affects the metabolism of lipids, leading to various clinical manifestations. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with ICD-10 code E75.240.

Clinical Presentation

Niemann-Pick disease type A typically presents in infancy or early childhood. The onset of symptoms can vary, but they generally manifest within the first few months of life. The disease is progressive, and symptoms tend to worsen over time.

Signs and Symptoms

1. Neurological Symptoms:
   - Developmental Delay: Children may exhibit delayed milestones, including motor skills and speech development.
   - Hypotonia: Reduced muscle tone is common, leading to difficulties in movement.
   - Ataxia: Loss of coordination and balance may occur as the disease progresses.
   - Seizures: Some patients may experience seizures due to neurological involvement.

2. Hepatosplenomegaly:
   - Enlarged Liver and Spleen: One of the hallmark signs of NPDA is significant enlargement of the liver (hepatomegaly) and spleen (splenomegaly), often detectable during physical examination.

3. Respiratory Issues:
   - Recurrent Infections: Patients may be prone to respiratory infections due to compromised immune function.

4. Growth Retardation:
   - Failure to Thrive: Affected children may not gain weight or grow as expected, leading to short stature and underweight status.

5. Cherry-Red Spot:
   - Ophthalmological Findings: A characteristic cherry-red spot may be observed in the retina during an eye examination, although this is not present in all cases.

6. Other Symptoms:
   - Dysphagia: Difficulty swallowing may develop as the disease progresses.
   - Behavioral Changes: Some children may exhibit changes in behavior, including irritability or decreased responsiveness.

Patient Characteristics

• Age of Onset: Symptoms typically appear in the first few months of life, with most cases diagnosed by age 2.
• Genetic Background: Niemann-Pick disease type A is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for a child to be affected. It is more prevalent in certain populations, including Ashkenazi Jews.
• Gender: The disease affects both males and females equally.

Conclusion

Niemann-Pick disease type A is a severe condition with a range of clinical presentations primarily affecting infants and young children. The combination of neurological symptoms, hepatosplenomegaly, and growth retardation are key indicators of the disease. Early diagnosis and management are crucial for improving the quality of life for affected individuals, although treatment options remain limited. Understanding the signs and symptoms associated with ICD-10 code E75.240 is essential for healthcare providers in identifying and managing this rare disorder effectively.

Niemann-Pick disease type A, classified under the ICD-10-CM code E75.240, is a rare genetic disorder characterized by the accumulation of lipids in various organs, particularly the spleen, liver, and brain. Understanding the alternative names and related terms for this condition can enhance clarity in medical documentation and communication. Below are some of the key alternative names and related terms associated with Niemann-Pick disease type A.

Alternative Names

1. Niemann-Pick Disease, Type A: This is the most commonly used name and is often abbreviated as NP-A.
2. Niemann-Pick Syndrome Type A: This term emphasizes the syndrome aspect of the disease.
3. Sphingomyelin Lipidosis: This term refers to the lipid accumulation characteristic of the disease, specifically sphingomyelin, which is a type of lipid that builds up in the cells.
4. Niemann-Pick Disease, A Variant: This term may be used to distinguish it from other types of Niemann-Pick disease, such as type B or type C.

Related Terms

1. Lipid Storage Disorder: Niemann-Pick disease type A falls under this broader category of disorders where lipids accumulate in the body due to metabolic dysfunction.
2. Autosomal Recessive Inheritance: This term describes the genetic inheritance pattern of Niemann-Pick disease type A, indicating that two copies of the mutated gene must be present for the disease to manifest.
3. Sphingomyelinase Deficiency: This term refers to the specific enzyme deficiency that leads to the accumulation of sphingomyelin in Niemann-Pick disease type A.
4. Neurodegenerative Disorder: As Niemann-Pick disease type A affects the nervous system, it can also be classified under neurodegenerative disorders, which involve the progressive degeneration of the structure and function of the nervous system.

Conclusion

Understanding the alternative names and related terms for Niemann-Pick disease type A (ICD-10 code E75.240) is crucial for healthcare professionals involved in diagnosis, treatment, and research. These terms not only facilitate better communication among medical practitioners but also enhance patient education and awareness regarding this rare genetic disorder. If you need further information or specific details about the condition, feel free to ask!

Niemann-Pick disease type A (NPDA) is a rare genetic disorder characterized by the accumulation of sphingomyelin due to a deficiency in the enzyme sphingomyelinase. The diagnosis of NPDA, which is classified under the ICD-10 code E75.240, involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Below are the key criteria used for diagnosing this condition:

Clinical Criteria

1. Symptoms and Signs:
   - Infants typically present with symptoms such as hepatosplenomegaly (enlarged liver and spleen), failure to thrive, and neurological deterioration.
   - Other clinical features may include developmental delays, hypotonia (decreased muscle tone), and cherry-red spots in the retina, which are indicative of the disease[1].

2. Family History:
   - A family history of Niemann-Pick disease or related lysosomal storage disorders can support the diagnosis, as NPDA is inherited in an autosomal recessive manner[1].

Biochemical Testing

1. Sphingomyelinase Activity:
   - The definitive biochemical test for NPDA is the measurement of sphingomyelinase activity in leukocytes or fibroblasts. A significantly reduced or absent enzyme activity confirms the diagnosis[2].

2. Lipid Analysis:
   - Elevated levels of sphingomyelin in plasma or tissue samples can also indicate the presence of Niemann-Pick disease. This is often assessed through lipid profiling[2].

Genetic Testing

1. Mutation Analysis:
   - Genetic testing for mutations in the SMPD1 gene, which encodes the enzyme sphingomyelinase, is crucial for confirming the diagnosis. Identification of pathogenic variants in this gene is definitive for NPDA[3].

Imaging Studies

1. Radiological Findings:
   - Imaging studies, such as ultrasound or MRI, may be used to assess organomegaly (enlargement of organs) and to evaluate any neurological involvement, although they are not diagnostic on their own[1].

Differential Diagnosis

1. Exclusion of Other Conditions:
   - It is essential to rule out other lysosomal storage disorders and metabolic conditions that may present with similar clinical features. This may involve additional biochemical tests and genetic evaluations[2].

Conclusion

The diagnosis of Niemann-Pick disease type A (ICD-10 code E75.240) is a multifaceted process that requires careful clinical assessment, biochemical testing for sphingomyelinase activity, and genetic confirmation. Early diagnosis is critical for management and potential therapeutic interventions, as the disease can lead to significant morbidity and mortality if left untreated. If you suspect NPDA, it is advisable to consult with a specialist in genetic or metabolic disorders for comprehensive evaluation and management.

References

1. Biomarkers in Cardiovascular Risk Assessment (A57055).
2. Apolipoprotein B ICD-10 Code Guide.
3. Lp-PLA2 Activity ICD-10 Code Guide.

Niemann-Pick disease type A (NPA) is a rare, inherited lysosomal storage disorder characterized by the accumulation of sphingomyelin in various tissues, leading to severe neurological and systemic complications. The condition is caused by mutations in the SMPD1 gene, which encodes the enzyme sphingomyelinase. As of now, there is no cure for NPA, and treatment primarily focuses on managing symptoms and improving the quality of life for affected individuals.

Standard Treatment Approaches

1. Symptomatic Management

• Neurological Support: Patients often experience neurological symptoms such as ataxia, seizures, and cognitive decline. Neurologists may prescribe medications to manage seizures and other neurological symptoms.
• Physical Therapy: To help maintain mobility and function, physical therapy is often recommended. This can include exercises to improve strength, coordination, and balance.
• Occupational Therapy: Occupational therapists can assist patients in adapting to daily living activities, enhancing their independence as much as possible.

2. Nutritional Support

• Dietary Management: Due to feeding difficulties and potential malnutrition, dietary interventions may be necessary. A nutritionist can help design a diet that meets the patient's needs, ensuring adequate caloric intake and nutritional balance.
• Supplementation: In some cases, vitamin and mineral supplementation may be recommended to address deficiencies that arise from the disease or its treatment.

3. Psychosocial Support

• Counseling and Support Groups: Psychological support for both patients and families is crucial. Counseling can help families cope with the emotional burden of the disease, while support groups provide a platform for sharing experiences and resources.

4. Experimental Therapies

• Enzyme Replacement Therapy (ERT): While not yet widely available for NPA, research is ongoing into ERT, which aims to replace the deficient enzyme. Clinical trials may be available for patients.
• Gene Therapy: Investigational approaches, including gene therapy, are being explored to correct the underlying genetic defect. These therapies are still in the experimental stages and are not yet standard practice.

5. Palliative Care

• End-of-Life Care: For advanced cases, palliative care becomes essential to manage pain and provide comfort. This multidisciplinary approach focuses on improving the quality of life for patients and their families.

Conclusion

The management of Niemann-Pick disease type A is complex and requires a multidisciplinary approach tailored to the individual needs of the patient. While current treatments focus on symptom management and supportive care, ongoing research into more definitive therapies, such as enzyme replacement and gene therapy, holds promise for the future. Families affected by NPA should work closely with healthcare providers to develop a comprehensive care plan that addresses both medical and psychosocial needs.