Atlantic Health System’s Lysosomal Storage Disease Program provides comprehensive and personalized clinical care for patients affected by lysosomal storage diseases (LSDs). These are genetic disorders caused by defects within cells. For patients affected by LSDs, our program offers diagnosis, management, and treatment . We also provide monitoring of several treatments including enzyme replacement therapy, substrate reduction therapy, and oral therapy.
Our team has the experience and resources to treat a wide range of complications commonly seen in these inherited metabolic diseases.
We are committed to integrating clinical research, teaching, and patient care, and our program is often involved in clinical studies, including clinical trials with the most advanced therapeutic agents. For a current list, please reach out to us or search here.
The program is unique for its integrated approach to patients affected by multi-systemic lysosomal diseases, while following Atlantic Health System’s principles of the pursuit of excellence and innovation in patient care.
What are Lysosomal Storage Diseases (LSDs)?
LSDs are primarily caused by a malfunction either in the lysosome’s enzymes, or in its ability to transport chemicals within the cell. Ineffective enzymes are unable to break complex molecules into usable bits, and a lysosome that can’t transport material effectively keeps unwanted material in the cell.
In both cases, the effect is a buildup of material to the point that the entire cell is negatively affected. Over time, these changes are reflected in the malfunction of the organs made up of these cells, resulting in progressive health issues.
Some common LSDs are:
- Fabry disease
- results from the accumulation of globotriaosylceramide. It is known as an X-linked genetic disease, meaning it can affect both men and women. It is associated with characteristic dark red skin spots, and its symptoms include chronic pain, gastrointestinal issues, and problems with the kidney, heart and lungs that progressively worsen.
- Gaucher disease
- is a progressive LSD causing enlargement of the spleen and liver, as well as bone lesions. Some forms of Gaucher disease also affect the brain, leading to severe neurological conditions.
- Mucopolysaccharidosis (I-VII)
- results from the accumulation of mucopolysaccharides and causes progressive damage to multiple organs and systems including the heart, bones, joints, eyes, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cellular materials.
- Niemann-Pick C disease
- results in a progressive neurological condition along with lung disease, as well as enlargement of the spleen and liver.
- Pompe disease
- presents in infancy and is frequently fatal. It results from glycogen build up in the heart and other organs, initially also known as acid maltase deficiency. If it manifests in childhood or adulthood, Pompe can cause progressive weakness in shoulder, hip, and respiratory muscles.
- Metachromatic leukodystrophy and Krabbe disease
- are devastating LSDs that result in progressive neurodegenerative conditions. When presented in adulthood, they are associated with neuropathies and psychiatric problems.
LSDs are relatively rare genetic disorders affecting 1 in 2,000-3,000 live births. Some specific LSD can occur more often in certain ethnic groups. Because these diseases follow several patterns of inheritance, a person’s risk of passing this condition on to his or her children depends on the disease and the individual’s family background.
Is any treatment available for patients with LSDs?
The treatment of LSDs can be divided into two groups: specific treatments and supportive/symptomatic care. Both treatment modalities complement each other, and together they aim for the best quality-of-life for the affected patients and families. Although the overall surveillance and treatment involves a metabolic geneticist and team, supportive treatment can and often does involve the multi-disciplinary care of different specialties.
Types of therapies are:
As LSDs are multi-systemic and complex, the Atlantic Health System Lysosomal Storage Disease Program is committed to offering the best medical experts in the field. Our goal is excellence in both health care and quality of life for LSD patients and their families.
The comprehensive and integrative services available at the AHS Lysosomal Storage Disease Program include, but are not limited to:
- Consultation and clinical evaluation
- Diagnostic testing and counseling
- Interactions with referring physicians involved in patients’ primary health care
- Coordination of multi-disciplinary management as needed
- Infusion centers for enzyme replacement therapy (both pediatric and adult)
- Monitoring of treatment clinical and biochemical response
- Surveillance of lysosomal storage disease related complications
- Patient education
- Opportunities for participation in clinical trials