ICD-10: E76.1

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare genetic disorder characterized by the deficiency of the enzyme iduronate-2-sulfatase. This enzyme is crucial for the breakdown of glycosaminoglycans (GAGs), which are complex carbohydrates that play a vital role in various bodily functions. The accumulation of GAGs in the body leads to a range of clinical manifestations.

Clinical Features

Symptoms and Signs

MPS II presents with a variety of symptoms that can vary significantly in severity and onset. Common clinical features include:

• Skeletal Abnormalities: Patients often exhibit short stature, joint stiffness, and skeletal deformities such as kyphosis and scoliosis.
• Facial Features: Distinctive facial characteristics may develop, including a broad nose, thick lips, and a prominent forehead.
• Neurological Impairment: While the severe form of MPS II is associated with significant cognitive decline, the attenuated form may have milder neurological symptoms.
• Cardiovascular Issues: Patients are at risk for heart problems, including valve abnormalities and cardiomyopathy.
• Respiratory Complications: Airway obstruction and recurrent respiratory infections are common due to the accumulation of GAGs in the respiratory tract.
• Hearing Loss: Many individuals experience progressive hearing loss due to ear infections and structural changes in the ear.

Types of MPS II

MPS II is classified into two forms based on the severity of symptoms:

1. Severe Form: Symptoms typically appear in early childhood, leading to rapid progression and significant cognitive impairment.
2. Attenuated Form: Symptoms may appear later in childhood or adolescence, with a slower progression and less severe cognitive involvement.

Diagnosis

The diagnosis of MPS II is confirmed through biochemical testing that measures the activity of the iduronate-2-sulfatase enzyme in blood or tissue samples. Genetic testing can also identify mutations in the IDS gene responsible for the condition. The ICD-10-CM code for MPS II is E76.1, which is used for billing and coding purposes in healthcare settings.

Treatment Options

While there is currently no cure for MPS II, treatment options focus on managing symptoms and improving quality of life. These may include:

• Enzyme Replacement Therapy (ERT): Elaprase (idursulfase) is the primary treatment, providing the missing enzyme to help reduce GAG accumulation.
• Supportive Care: This includes physical therapy, occupational therapy, and regular monitoring for complications such as cardiac and respiratory issues.
• Surgical Interventions: Some patients may require surgery to address skeletal deformities or to improve airway function.

Prognosis

The prognosis for individuals with MPS II varies widely depending on the form of the disease and the timing of diagnosis and treatment. Early intervention with ERT can significantly improve outcomes, particularly in the attenuated form, where cognitive function may remain relatively intact.

In summary, Mucopolysaccharidosis type II (ICD-10 code E76.1) is a complex disorder with a range of clinical manifestations that require a multidisciplinary approach for management and care. Early diagnosis and treatment are crucial for improving the quality of life for affected individuals.

Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare genetic disorder caused by the deficiency of the enzyme iduronate-2-sulfatase. This deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various tissues, resulting in a range of clinical manifestations. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with MPS II, corresponding to the ICD-10 code E76.1.

Clinical Presentation

MPS II typically presents in early childhood, with symptoms often becoming noticeable between the ages of 2 and 4 years. The severity of the disease can vary significantly among affected individuals, with some experiencing milder forms and others facing more severe manifestations.

Signs and Symptoms

1. Skeletal Abnormalities:
   - Dysostosis: Patients may exhibit skeletal deformities, including short stature, joint stiffness, and abnormal bone development.
   - Gait Disturbances: Due to joint and bone issues, affected individuals may have difficulty walking or may develop a waddling gait.

2. Facial Features:
   - Coarse Facial Features: Characteristic facial changes may include a broad nose, thick lips, and a prominent forehead.
   - Macrocephaly: An enlarged head size is often observed.

3. Neurological Symptoms:
   - Cognitive Impairment: Some patients may experience developmental delays or intellectual disability, particularly in more severe cases.
   - Behavioral Issues: Hyperactivity and other behavioral problems can also be present.

4. Cardiovascular Complications:
   - Heart Disease: Patients may develop heart valve abnormalities and other cardiovascular issues, which can lead to significant morbidity.

5. Respiratory Problems:
   - Obstructive Sleep Apnea: Due to airway obstruction from enlarged tonsils and adenoids, many patients experience sleep apnea.
   - Recurrent Respiratory Infections: Increased susceptibility to infections is common.

6. Hearing Loss:
   - Conductive Hearing Loss: Many individuals with MPS II experience hearing impairment due to ear infections and structural changes in the ear.

7. Hepatosplenomegaly:
   - Enlarged Liver and Spleen: Accumulation of GAGs can lead to enlargement of these organs, which may be detected during physical examinations.

8. Skin Changes:
   - Thickened Skin: Some patients may exhibit skin changes, including thickening and a rough texture.

Patient Characteristics

• Genetic Background: MPS II is an X-linked recessive disorder, primarily affecting males. Females can be carriers and may exhibit mild symptoms.
• Age of Onset: Symptoms typically manifest in early childhood, but the age of diagnosis can vary based on the severity of symptoms and awareness of the condition.
• Progression: The disease is progressive, with symptoms worsening over time, particularly if left untreated. Early diagnosis and intervention can improve outcomes.

Conclusion

Mucopolysaccharidosis Type II (ICD-10 code E76.1) presents with a diverse array of clinical features, including skeletal abnormalities, cognitive impairment, and cardiovascular complications. The condition primarily affects males due to its X-linked inheritance pattern, and early recognition of symptoms is crucial for management and treatment. Understanding the signs and symptoms associated with MPS II can aid in timely diagnosis and intervention, ultimately improving the quality of life for affected individuals.

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a genetic disorder that affects the body's ability to break down glycosaminoglycans (GAGs), leading to their accumulation in various tissues. This condition is classified under the ICD-10-CM code E76.1. Below are alternative names and related terms associated with this condition.

Alternative Names for MPS II

1. Hunter Syndrome: This is the most commonly used alternative name for MPS II, named after Dr. Charles Hunter, who first described the condition.
2. Mucopolysaccharidosis type II: This is the formal name used in medical literature and coding systems.
3. MPS II: An abbreviation commonly used in both clinical and research settings.

Related Terms

1. Glycosaminoglycan Storage Disease: This term refers to a broader category of disorders, including MPS II, characterized by the accumulation of GAGs.
2. Lysosomal Storage Disorder: MPS II is classified as a lysosomal storage disorder, which encompasses a group of inherited metabolic diseases resulting from enzyme deficiencies.
3. X-Linked Mucopolysaccharidosis: MPS II is inherited in an X-linked recessive pattern, which is relevant for genetic counseling and understanding the inheritance pattern.
4. Severe Form of MPS II: This term is used to describe the more pronounced symptoms and complications associated with the condition.
5. Attenuated Form of MPS II: This refers to a milder variant of the disorder, which may present with less severe symptoms and a later onset.

Clinical Context

MPS II is characterized by a deficiency of the enzyme iduronate-2-sulfatase, leading to the accumulation of GAGs such as dermatan sulfate and heparan sulfate. The condition can result in a range of symptoms, including developmental delays, skeletal abnormalities, and organ dysfunction. Understanding the various names and related terms is crucial for healthcare professionals in diagnosing and managing the condition effectively.

In summary, Mucopolysaccharidosis type II (E76.1) is primarily known as Hunter syndrome, with several related terms that help describe its clinical and genetic characteristics. These terms are essential for accurate diagnosis, treatment planning, and genetic counseling.

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare genetic disorder characterized by the deficiency of the enzyme iduronate-2-sulfatase. This deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various tissues, resulting in a range of clinical symptoms. The diagnosis of MPS II, corresponding to ICD-10 code E76.1, involves several criteria and diagnostic approaches.

Diagnostic Criteria for MPS II

1. Clinical Evaluation

The initial step in diagnosing MPS II involves a thorough clinical evaluation. Physicians typically look for the following clinical features:
- Physical Symptoms: Patients may exhibit distinctive facial features, such as a broad nose, thick lips, and a prominent forehead. Other symptoms include joint stiffness, short stature, and developmental delays.
- Organ Involvement: MPS II can affect multiple organ systems, leading to complications such as cardiac issues, respiratory problems, and hearing loss.

2. Enzyme Activity Testing

A definitive diagnosis of MPS II is confirmed through biochemical testing:
- Iduronate-2-sulfatase Activity: Measurement of the enzyme activity in leukocytes (white blood cells) or fibroblasts is crucial. A significantly reduced or absent level of iduronate-2-sulfatase confirms the diagnosis of MPS II.

3. Genetic Testing

Genetic testing plays a vital role in confirming the diagnosis:
- Mutation Analysis: Identification of mutations in the IDS gene, which encodes the iduronate-2-sulfatase enzyme, can provide a definitive diagnosis. This is particularly useful in cases where enzyme activity testing yields inconclusive results.

4. Imaging Studies

Imaging studies may be utilized to assess the extent of organ involvement:
- X-rays and MRI: These imaging techniques can help evaluate skeletal abnormalities and assess the impact of the disease on various organs.

5. Family History

A detailed family history is also important, as MPS II is inherited in an X-linked recessive pattern. This means that the condition is more common in males, and a family history of similar symptoms can support the diagnosis.

Conclusion

The diagnosis of Mucopolysaccharidosis type II (ICD-10 code E76.1) is multifaceted, involving clinical evaluation, biochemical testing for enzyme activity, genetic testing for mutations, and imaging studies to assess organ involvement. Early diagnosis is crucial for managing the condition effectively, as it can lead to timely interventions that may improve the quality of life for affected individuals. If you suspect MPS II, consulting a healthcare professional for a comprehensive evaluation is essential.