For individuals and families living with Mucopolysaccharidosis Type VI (MPS VI), also known as Maroteaux-Lamy syndrome, the journey often involves navigating significant physical challenges while maintaining normal intellectual development. Patients frequently face stiff joints, clouded vision, and reduced endurance, which can make simple tasks like walking or climbing stairs difficult. Because the mind remains unaffected, the physical limitations can be particularly frustrating. While the condition is progressive, modern medicine has transformed the outlook for many patients, shifting the focus from palliative care to active disease management.

Treatment is critical to slow the accumulation of harmful substances in the body that cause tissue damage. The primary goals are to improve endurance, preserve joint function, and protect vital organs like the heart and lungs. Since the severity of MPS VI varies, ranging from rapidly progressing forms in early childhood to slower-progressing forms diagnosed later, treatment plans are highly personalized. Medical teams typically include geneticists, cardiologists, and orthopedists working together to tailor therapy to the patient’s specific needs (National Organization for Rare Disorders, 2023).

Overview of treatment options for Mucopolysaccharidosis Type 6

The management of MPS VI relies on a two-pronged approach: disease-modifying therapy to address the underlying enzyme deficiency and supportive care to manage specific symptoms. The introduction of Enzyme Replacement Therapy (ERT) has become the standard of care for most patients.

Before ERT was available, treatment was limited to managing complications through surgery or physical therapy. Today, medication plays a central role in halting the progression of the disease. While Hematopoietic Stem Cell Transplantation (HSCT) is sometimes considered for specific cases, weekly medication via infusion is the most common path. The goal is to start treatment as early as possible to prevent irreversible skeletal and organ damage.

Medications used for Mucopolysaccharidosis Type 6

The primary pharmacological treatment for MPS VI is galsulfase. This is a targeted Enzyme Replacement Therapy (ERT) approved specifically for this condition. It is administered through an intravenous (IV) infusion, typically once a week. Clinical studies show that patients treated with galsulfase often experience significant improvements in walking distance and stair-climbing ability, as well as a reduction in the release of disease markers in the urine.

Because galsulfase does not fix damage that has already occurred particularly in the bones, it is often used alongside supportive medications. Non-steroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen or naproxen, are frequently prescribed to manage the chronic joint pain and inflammation associated with the condition.

For patients who develop heart complications, which are common in MPS VI, doctors may prescribe cardiac medications. These might include ACE inhibitors (like enalapril) or beta-blockers to manage high blood pressure or support heart valve function. Eye drops may also be used if corneal clouding causes increased pressure or discomfort (National Institutes of Health, 2021).

How these medications work

MPS VI is caused by a deficiency in the enzyme arylsulfatase B, leading to a buildup of complex sugars (GAGs) inside cells. This accumulation causes cell malfunction and tissue damage.

Galsulfase, a recombinant human form of N-acetylgalactosamine-4-sulfatase, replaces the missing enzyme. Infused into the bloodstream, it’s taken up by cells, directed to the lysosomes, and breaks down the accumulated GAGs. This reduces swelling and damage in organs like the liver and spleen and improves lung function, though it is ineffective in bone or cartilage due to poor blood flow (Food and Drug Administration, 2022).

Side effects and safety considerations

Enzyme Replacement Therapy carries a risk of infusion-associated reactions, including fever, chills, rash, hives, or headache. Pre-medications, like antihistamines and fever reducers, are routinely given to prevent these.

Anaphylaxis, a severe allergic reaction, is also a risk. Infusions are usually administered in a clinical setting equipped for emergencies, though stable patients may transition to home infusions. Regular monitoring for antibodies is necessary, as they can reduce drug effectiveness. Patients must seek immediate care for difficulty breathing, chest tightness, or facial swelling (MedlinePlus, 2020).

Since everyone’s experience with the condition and its treatments can vary, working closely with a qualified healthcare provider helps ensure safe and effective care.

References

1. National Organization for Rare Disorders. https://rarediseases.org
2. National Institutes of Health. https://www.nih.gov
3. Food and Drug Administration. https://www.fda.gov
4. MedlinePlus. https://medlineplus.gov