Summary about Disease
Shwachman-Diamond Syndrome (SDS) is a rare inherited disorder that primarily affects the bone marrow, pancreas, and skeletal system. It leads to problems with blood cell production, digestion, and bone development. The severity of symptoms varies widely among affected individuals.
Symptoms
Symptoms of SDS can include:
Bone Marrow Dysfunction: Neutropenia (low white blood cell count), anemia (low red blood cell count), thrombocytopenia (low platelet count), increased risk of infections, and potential for developing myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML).
Pancreatic Insufficiency: Difficulty digesting fats and absorbing nutrients, leading to diarrhea, foul-smelling stools (steatorrhea), and failure to thrive.
Skeletal Abnormalities: Short stature, rib cage abnormalities, metaphyseal dysostosis (abnormal development of the ends of long bones), and scoliosis.
Other: Liver abnormalities, dental issues, developmental delays.
Causes
SDS is caused by mutations in the SBDS gene, located on chromosome 7. This gene is involved in ribosome biogenesis and function. Mutations in *SBDS* impair the proper development and function of the bone marrow and pancreas. SDS is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for a child to be affected.
Medicine Used
Treatment for SDS is focused on managing the individual's symptoms.
Pancreatic Enzyme Replacement Therapy: Supplementing with pancreatic enzymes to aid digestion and nutrient absorption.
Growth Hormone: To help with short stature.
Granulocyte Colony-Stimulating Factor (G-CSF): To stimulate white blood cell production and reduce the risk of infections.
Blood Transfusions: To treat anemia or thrombocytopenia.
Antibiotics: To treat infections.
Hematopoietic Stem Cell Transplantation (HSCT): In cases of severe bone marrow failure or development of MDS or AML.
Is Communicable
No, Shwachman-Diamond Syndrome is not communicable. It is a genetic disorder, not an infectious disease, and cannot be spread from person to person.
Precautions
Precautions for individuals with SDS and their caregivers include:
Minimize Exposure to Infections: Frequent handwashing, avoiding contact with sick individuals, and staying up-to-date on vaccinations (as recommended by their doctor).
Maintain Good Nutrition: Following a diet recommended by a dietitian to address pancreatic insufficiency and ensure adequate nutrient intake.
Regular Medical Monitoring: Regular blood tests to monitor blood cell counts and bone marrow function, as well as monitoring for signs of MDS or AML.
Protecting from injury: Patients with SDS should take caution when participating in physical activities, as some can be predisposed to bone or skeletal issues.
How long does an outbreak last?
SDS is not an infectious disease, it does not have 'outbreaks' so it will not have a duration of time.
How is it diagnosed?
Diagnosis of SDS typically involves:
Clinical Evaluation: Review of the individual's symptoms and medical history.
Blood Tests: Complete blood count (CBC) to assess blood cell levels and a comprehensive metabolic panel.
Fecal Elastase Test: To assess pancreatic function.
Bone Marrow Aspirate and Biopsy: To evaluate bone marrow cellularity and morphology.
Genetic Testing: To confirm the diagnosis by identifying mutations in the SBDS gene.
Skeletal X-rays: To assess bone abnormalities.
Timeline of Symptoms
The timeline of symptoms can vary, but typically:
Infancy/Early Childhood: Pancreatic insufficiency often presents in infancy with malabsorption and failure to thrive. Bone marrow dysfunction may become apparent with frequent infections.
Childhood/Adolescence: Short stature and skeletal abnormalities may become more noticeable. The risk of developing MDS or AML increases with age.
Adulthood: Individuals with SDS require ongoing monitoring for complications related to bone marrow dysfunction and other organ involvement.
Important Considerations
Lifelong Monitoring: Individuals with SDS require lifelong medical monitoring for complications.
Increased Cancer Risk: There is an increased risk of developing MDS or AML, requiring regular bone marrow evaluations.
Genetic Counseling: Genetic counseling is recommended for families with a child diagnosed with SDS.
Multidisciplinary Care: Management of SDS requires a multidisciplinary team of specialists, including hematologists, gastroenterologists, endocrinologists, and orthopedic surgeons.
Quality of Life: With appropriate management, many individuals with SDS can live fulfilling lives.