ICD-10: E75.242

Niemann-Pick disease type C (NPC) is a rare genetic disorder characterized by the abnormal accumulation of lipids within cells, leading to a variety of neurological and systemic symptoms. The ICD-10-CM code for this condition is E75.242. Below is a detailed clinical description and relevant information regarding NPC.

Clinical Description of Niemann-Pick Disease Type C

Etiology and Pathophysiology

Niemann-Pick disease type C is primarily caused by mutations in the NPC1 or NPC2 genes, which are essential for the intracellular transport of cholesterol and other lipids. These mutations disrupt the normal metabolism of lipids, resulting in their accumulation in various tissues, particularly in the liver, spleen, and brain. This accumulation leads to cellular dysfunction and the progressive symptoms associated with the disease[1].

Symptoms and Clinical Features

The clinical presentation of NPC can vary significantly among individuals, but common symptoms include:

• Neurological Symptoms: These may include ataxia (loss of coordination), dysarthria (speech difficulties), cognitive decline, seizures, and progressive loss of motor skills. Patients often exhibit behavioral changes and developmental delays[1][2].
• Hepatosplenomegaly: Enlargement of the liver and spleen is frequently observed in affected individuals, particularly in early childhood[2].
• Psychiatric Symptoms: Some patients may experience psychiatric manifestations, including depression and psychosis, which can complicate the clinical picture[1].
• Other Features: Additional symptoms may include vertical supranuclear gaze palsy, dystonia, and other movement disorders[2].

Diagnosis

Diagnosis of Niemann-Pick disease type C typically involves a combination of clinical evaluation, family history, and biochemical tests. Key diagnostic methods include:

• Genetic Testing: Identification of mutations in the NPC1 or NPC2 genes confirms the diagnosis[1].
• Biochemical Assays: Measurement of cholesterol levels in cultured skin fibroblasts can also aid in diagnosis, as affected individuals often show abnormal cholesterol accumulation[2].

Prevalence

Niemann-Pick disease type C is considered a rare disorder, with an estimated prevalence of approximately 1 in 100,000 to 1 in 150,000 live births. However, the actual prevalence may be higher due to underdiagnosis or misdiagnosis[2][3].

Management and Treatment

Currently, there is no cure for Niemann-Pick disease type C, and treatment is primarily supportive. Management strategies may include:

• Symptomatic Treatment: Addressing specific symptoms such as seizures, movement disorders, and psychiatric issues through medications and therapies[1].
• Dietary Management: Some patients may benefit from dietary modifications to manage lipid levels[2].
• Investigational Therapies: Research is ongoing into potential disease-modifying therapies, including the use of miglustat, which has shown promise in slowing disease progression in some patients[3].

Conclusion

Niemann-Pick disease type C (ICD-10 code E75.242) is a complex genetic disorder with significant neurological and systemic implications. Early diagnosis and supportive care are crucial for managing symptoms and improving the quality of life for affected individuals. Ongoing research into targeted therapies holds promise for future advancements in treatment options.

For further information or specific inquiries regarding coding and billing for NPC, healthcare providers may refer to relevant coding guidelines and resources.

Niemann-Pick disease type C (NPC) is a rare genetic disorder characterized by the abnormal accumulation of lipids within cells, leading to a variety of clinical manifestations. The condition is primarily caused by mutations in the NPC1 or NPC2 genes, which are crucial for lipid transport within cells. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with NPC, particularly in relation to the ICD-10 code E75.242.

Clinical Presentation

Niemann-Pick disease type C typically presents in two forms: a juvenile form and an adult form. The age of onset can vary significantly, with symptoms often appearing in childhood, but some cases may not manifest until adolescence or adulthood.

Signs and Symptoms

The symptoms of NPC can be diverse and may affect multiple organ systems. Common signs and symptoms include:

• Neurological Symptoms:
• Ataxia (loss of coordination)
• Dysarthria (difficulty speaking)
• Cognitive decline and learning difficulties
• Seizures

• Vertical supranuclear gaze palsy (difficulty moving the eyes vertically)

• Psychiatric Symptoms:

• Behavioral changes
• Depression and anxiety

• Psychosis in some cases

• Physical Symptoms:

• Hepatosplenomegaly (enlargement of the liver and spleen)
• Jaundice (yellowing of the skin and eyes)
• Growth retardation in children

• Dysphagia (difficulty swallowing)

• Other Symptoms:

• Frequent respiratory infections
• Bone abnormalities, such as scoliosis

Patient Characteristics

Patients with Niemann-Pick disease type C often exhibit specific characteristics:

• Genetic Background: NPC is inherited in an autosomal recessive manner, meaning that both copies of the gene in each cell have mutations. Family history may reveal other affected individuals.

• Demographics: While NPC can affect individuals of any ethnicity, certain populations may have higher prevalence rates due to genetic factors. For instance, it is more commonly reported in individuals of Ashkenazi Jewish descent.

• Age of Onset: Symptoms can appear at various ages, but the juvenile form typically manifests between ages 2 and 6, while the adult form may not present until the late teens or early adulthood.

• Progression: The disease is progressive, with symptoms worsening over time. The rate of progression can vary significantly among individuals.

Conclusion

Niemann-Pick disease type C (ICD-10 code E75.242) is a complex disorder with a wide range of clinical presentations. The combination of neurological, psychiatric, and physical symptoms can significantly impact the quality of life for affected individuals. Early diagnosis and management are crucial for improving outcomes, although there is currently no cure for the disease. Ongoing research into treatment options, including enzyme replacement therapy and other innovative approaches, holds promise for future management of NPC.

Niemann-Pick disease type C (NPC) is a rare genetic disorder characterized by the accumulation of lipids in various tissues, leading to neurological and visceral symptoms. The ICD-10-CM code for Niemann-Pick disease type C is E75.242. Below are alternative names and related terms associated with this condition.

Alternative Names for Niemann-Pick Disease Type C

1. Niemann-Pick Disease Type C1: This term is often used to differentiate between the two subtypes of Niemann-Pick disease type C, with type C1 being the more common form.
2. Niemann-Pick Disease Type C2: Refers to the less common subtype of Niemann-Pick disease type C.
3. Cholesterol Storage Disease: This term highlights the disorder's association with abnormal cholesterol metabolism and storage.
4. Niemann-Pick Syndrome: A broader term that encompasses both type A and type B, in addition to type C, although type C is distinct in its clinical presentation and genetic basis.
5. Lipid Storage Disease: A general term that refers to a group of disorders, including NPC, characterized by the accumulation of lipids in cells.

Related Terms

1. Sphingolipid Metabolism Disorder: NPC is classified under disorders affecting sphingolipid metabolism, which includes various other conditions.
2. Autosomal Recessive Inheritance: This term describes the genetic inheritance pattern of Niemann-Pick disease type C, indicating that two copies of the mutated gene are necessary for the disease to manifest.
3. NPC1 and NPC2 Genes: These are the two genes associated with Niemann-Pick disease type C, with mutations in either gene leading to the condition.
4. Neurodegenerative Disorder: NPC is often categorized as a neurodegenerative disorder due to its impact on the nervous system and progressive nature.
5. Lysosomal Storage Disorder: NPC is classified as a lysosomal storage disorder, which involves the malfunction of lysosomes in breaking down certain substances.

Conclusion

Understanding the alternative names and related terms for Niemann-Pick disease type C is essential for accurate diagnosis, coding, and communication within the healthcare community. The terminology reflects the genetic, metabolic, and clinical aspects of the disease, aiding in better awareness and management of this complex condition.

Niemann-Pick disease type C (NPC) is a rare genetic disorder characterized by the accumulation of lipids in various tissues, leading to a range of neurological and systemic symptoms. The ICD-10 code E75.242 specifically refers to this condition. Diagnosing NPC involves a combination of clinical evaluation, biochemical tests, and genetic testing. Below are the key criteria used for diagnosis:

Clinical Criteria

1. Symptomatology: Patients typically present with a variety of symptoms, which may include:
   - Neurological symptoms such as ataxia, dystonia, and cognitive decline.
   - Hepatosplenomegaly (enlargement of the liver and spleen).
   - Psychiatric symptoms, including behavioral changes and mood disorders.
   - Progressive loss of motor skills and coordination.

2. Age of Onset: Symptoms often manifest in childhood, but late-onset forms can occur, making age a factor in the diagnostic process.

Biochemical Testing

1. Cholesterol and Lipid Levels: Patients with NPC often exhibit abnormal lipid profiles, including elevated levels of cholesterol in the liver and other tissues.

2. Filipin Test: This test is used to assess the accumulation of unesterified cholesterol in cultured skin fibroblasts. A positive result indicates impaired cholesterol trafficking, which is characteristic of NPC.

Genetic Testing

1. Mutation Analysis: Genetic testing for mutations in the NPC1 or NPC2 genes is crucial for confirming the diagnosis. The NPC1 gene is the most commonly implicated, accounting for the majority of cases.

2. Family History: Given that NPC is inherited in an autosomal recessive manner, a detailed family history can provide insights into the likelihood of the disease being present.

Imaging Studies

1. Neuroimaging: MRI or CT scans may reveal characteristic findings such as cerebellar atrophy or other structural brain changes associated with NPC.

Differential Diagnosis

1. Exclusion of Other Conditions: It is essential to rule out other lysosomal storage disorders or conditions that may present with similar symptoms, such as Gaucher disease or other forms of Niemann-Pick disease.

Conclusion

The diagnosis of Niemann-Pick disease type C (ICD-10 code E75.242) is multifaceted, relying on clinical presentation, biochemical tests, genetic analysis, and imaging studies. Early diagnosis is critical for management and potential therapeutic interventions, as NPC can lead to significant morbidity if left untreated. If you suspect NPC in a patient, a comprehensive evaluation involving these criteria is essential for accurate diagnosis and appropriate care.

Niemann-Pick disease type C (NPC), classified under ICD-10 code E75.242, is a rare genetic disorder characterized by the accumulation of lipids in various tissues due to a defect in lipid metabolism. This condition primarily affects the central nervous system and can lead to a range of neurological and physical symptoms. The management of NPC is complex and typically involves a multidisciplinary approach. Below, we explore the standard treatment strategies for this condition.

Overview of Niemann-Pick Disease Type C

Niemann-Pick disease type C is caused by mutations in the NPC1 or NPC2 genes, which are crucial for the intracellular transport of cholesterol and other lipids. The disease manifests in various forms, with symptoms often appearing in childhood or adolescence, including ataxia, cognitive decline, and hepatosplenomegaly. Due to its progressive nature, early diagnosis and intervention are critical for improving patient outcomes.

Standard Treatment Approaches

1. Symptomatic Management

Given the complexity of NPC, treatment often focuses on alleviating symptoms and improving the quality of life. This may include:

• Physical Therapy: To address motor skills and coordination issues, physical therapy can help maintain mobility and prevent contractures.
• Occupational Therapy: This therapy aids in enhancing daily living skills and adapting the environment to the patient's needs.
• Speech Therapy: For patients experiencing difficulties with communication or swallowing, speech therapy can be beneficial.

2. Pharmacological Treatments

While there is no cure for NPC, certain medications have shown promise in managing symptoms and slowing disease progression:

• Miglustat (Zavesca): This oral medication is approved for the treatment of NPC. It works by inhibiting glucosylceramide synthase, which helps reduce the accumulation of lipids in cells. Clinical studies have indicated that miglustat can stabilize neurological function in some patients[1][2].
• Other Investigational Therapies: Research is ongoing into other potential treatments, including gene therapy and enzyme replacement therapy, although these are still largely experimental and not widely available[3].

3. Nutritional Support

Patients with NPC may experience difficulties with feeding and nutrition due to neurological impairments. Nutritional support, including dietary modifications and supplementation, can help manage these challenges. A dietitian can assist in creating a tailored nutrition plan that meets the patient's needs.

4. Psychosocial Support

The impact of NPC extends beyond physical symptoms, affecting emotional and psychological well-being. Support groups, counseling, and mental health services can provide essential support for both patients and their families, helping them cope with the challenges of the disease.

5. Regular Monitoring and Follow-Up

Ongoing medical care is crucial for managing NPC. Regular follow-ups with a healthcare team, including neurologists, geneticists, and other specialists, are necessary to monitor disease progression and adjust treatment plans as needed.

Conclusion

The management of Niemann-Pick disease type C requires a comprehensive and individualized approach, focusing on symptomatic relief, pharmacological interventions, and supportive therapies. While current treatments can help manage symptoms and improve quality of life, ongoing research is essential to develop more effective therapies. Families affected by NPC should work closely with healthcare providers to ensure a holistic approach to care, addressing both medical and psychosocial needs.

For further information on treatment options and ongoing clinical trials, patients and caregivers are encouraged to consult specialized centers or organizations dedicated to lysosomal storage disorders.