What is Hurler Syndrome (MPS-IH)
What is Hurler Syndrome (MPS-IH)
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Frequently Asked Questions (FAQ) :
Hurler Syndrome, also known as Mucopolysaccharidosis Type I H (MPS-IH), is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is crucial for breaking down glycosaminoglycans (GAGs), substances that build up in cells, tissues, and organs, leading to various health problems.
Symptoms of Hurler Syndrome vary but often include:
- Developmental delays
- Enlarged liver and spleen
- Skeletal abnormalities (dysostosis multiplex)
- Coarse facial features
- Corneal clouding
- Heart valve abnormalities
- Breathing difficulties and frequent infections
Diagnosis is based on:
- Clinical Examination: Identifying characteristic physical symptoms
- Enzyme Assay: Measuring alpha-L-iduronidase activity in blood or skin cells
- Genetic Testing: Confirming mutations in the IDUA gene
Early diagnosis is crucial for timely intervention.
What is Hurler Syndrome (MPS-IH)
Hurler Syndrome is part of a group of diseases called Mucopolysaccharidoses (MPS), which are caused by deficiencies in enzymes responsible for breaking down certain sugars. MPS-IH is one of the most severe forms of MPS, leading to progressive physical and intellectual disabilities.
It is an inherited disorder that is passed down in an autosomal recessive manner, meaning both parents must be carriers of the defective gene for a child to be affected.
Types of Hurler Syndrome (MPS-IH)
Hurler Syndrome can be classified into three subtypes:
- Hurler Syndrome (MPS-IH): The most severe form, typically presenting in infancy with developmental delay, organ enlargement, and skeletal abnormalities.
- Hurler-Scheie Syndrome (MPS-IS): A milder form of the disease, with later onset and slower progression.
- Scheie Syndrome (MPS-IC): The least severe form, often involving mild skeletal, cardiac, and vision problems.
Causes of Hurler Syndrome
Hurler Syndrome is caused by mutations in the IDUA gene, which encodes the enzyme alpha-L-iduronidase. This enzyme is responsible for breaking down GAGs in the body. When the enzyme is deficient or absent, GAGs accumulate in the cells, tissues, and organs, causing the symptoms associated with the disorder.
Since Hurler Syndrome is an inherited disorder, both parents must pass on a defective copy of the IDUA gene for the condition to manifest in the child.
Symptoms of Hurler Syndrome
The symptoms of Hurler Syndrome vary depending on the severity and type of the condition. Common signs and symptoms include:
- Physical Features: Coarse facial features, enlarged tongue, thickened skin, and a large head (macrocephaly).
- Developmental Delays: Delayed milestones such as sitting, walking, or talking.
- Hearing Loss: Progressive hearing impairment.
- Respiratory Issues: Frequent respiratory infections, airway obstruction, and difficulty breathing.
- Joint and Skeletal Problems: Limited joint mobility, skeletal deformities, and short stature.
- Heart and Liver Enlargement: Cardiomegaly (enlarged heart) and hepatomegaly (enlarged liver).
- Intellectual Disability: Progressive cognitive decline and behavioral issues.
Diagnosis of Hurler Syndrome
Early diagnosis is crucial for managing Hurler Syndrome and preventing further complications. The diagnostic process typically involves:
- Physical Examination: Identifying characteristic signs such as facial features and joint stiffness.
- Blood Tests: To measure enzyme activity levels, including alpha-L-iduronidase.
- Genetic Testing: Identifying mutations in the IDUA gene to confirm the diagnosis.
- Imaging Studies: X-rays or MRI scans to assess organ enlargement and skeletal abnormalities.
If you suspect that your child may have Hurler Syndrome, it is important to seek the expertise of a qualified hematologist like Dr. Rahul Bhargava.
Treatment for Hurler Syndrome
Although there is no cure for Hurler Syndrome, various treatment options can help manage symptoms and improve quality of life. These include:
1. Enzyme Replacement Therapy (ERT)
Enzyme replacement therapy is the primary treatment for Hurler Syndrome. This involves regular intravenous infusions of the enzyme idursulfase to replace the deficient enzyme, helping reduce the buildup of GAGs in the body. Early initiation of ERT can slow the progression of symptoms and improve organ function.
Why Choose Dr. Rahul Bhargava for Hurler Syndrome Treatment?
Dr. Rahul Bhargava is an internationally recognized hematologist with years of experience in treating rare genetic disorders such as Hurler Syndrome. His expertise in both Enzyme Replacement Therapy (ERT) and Hematopoietic Stem Cell Transplantation (HSCT) has helped many patients improve their quality of life.
Key Reasons to Choose Dr. Bhargava:
- Expertise: Dr. Bhargava has successfully treated numerous patients with MPS-IH using the latest medical advances.
- Personalized Care: Each treatment plan is tailored to meet the specific needs of the patient.
- State-of-the-Art Facilities: Dr. Bhargava operates in top hospitals equipped with advanced diagnostic and treatment technologies.
- Multidisciplinary Approach: The team works closely with specialists in genetics, cardiology, pulmonology, and other fields for comprehensive care.
- Proven Success: Many of Dr. Bhargava’s patients have shown significant improvement in their symptoms and overall well-being.
Cost of Treatment and Stay in India
India has emerged as a leading medical tourism destination, offering world-class healthcare at affordable costs. The cost of treating Hurler Syndrome, including Enzyme Replacement Therapy (ERT) and Hematopoietic Stem Cell Transplantation (HSCT), is significantly lower in India compared to Western countries.
Estimated Cost Breakdown:
- Enzyme Replacement Therapy (ERT): The cost of ERT per year in India ranges from INR 20-25 lakhs (approximately USD 24,000-30,000), depending on the frequency and duration of treatment.
- Hematopoietic Stem Cell Transplantation (HSCT): The cost of a bone marrow transplant in India ranges from INR 25-35 lakhs (approximately USD 30,000-42,000), including hospitalization, surgery, and post-transplant care.
- Consultation Fees: Dr. Bhargava’s consultation fees are competitive and affordable, with initial consultation starting from INR 2,000-3,000 (approximately USD 24-36).