What Is Shwachman-Diamond Syndrome?
Shwachman-Diamond syndrome (SDS) is a condition passed down in families (inherited) that most commonly affects the bone marrow, pancreas and skeleton.
SDS causes bone marrow failure. Bone marrow failure means the marrow inside the bones doesn't make enough of one or more kinds of blood cells the body needs. Most often, the bone marrow of people with Shwachman-Diamond syndrome does not make some types of white blood cells. White blood cells fight infection.
People with Shwachman-Diamond syndrome usually have low levels of white blood cells called neutrophils (NOO-truh-fills). This condition is called neutropenia (noo-truh-PEE-nee-uh). They may also have low levels of:
- White blood cells called lymphocytes (LIM-fuh-sites), which help fight infections
- Red blood cells, which carry oxygen (a low level of red blood cells causes a condition called anemia)
- Platelets, which help blood to clot (a low level of platelets causes a condition called thrombocytopenia, pronounced THROM-bow-sye-toe-PEE-nee-uh)
- All three kinds of blood cells, which causes a condition called aplastic anemia
People with Shwachman-Diamond syndrome are also at risk of developing leukemia.
Shwachman-Diamond syndrome affects how part of the pancreas works. The pancreas makes enzymes that help digest food. People with Shwachman-Diamond syndrome may not make enough of these enzymes (a condition called exocrine pancreatic insufficiency). This makes it hard for children with Shwachman-Diamond syndrome to get the nutrients they need to grow.
Many children with Shwachman-Diamond syndrome have problems with the growth and development of their bones, especially their hips and knees. Some are born with small rib cages and short ribs. This can cause serious problems with breathing. Children may also have problems with low bone density (called osteopenia).
Shwachman-Diamond Syndrome in Children
Shwachman-Diamond syndrome is an inherited (genetic) condition. It is an autosomal recessive condition. That means the parents of a child with SDS do not have the disease, but they each carry one gene that causes SDS (SBDS gene). Parents can pass this gene on to their children. A child with SDS must inherit two of these genes, one from each parent.
Babies are born with the condition (congenital). They usually have symptoms by the time they are 4 to 6 months old. Doctors may find the problem early in life, but some people are not diagnosed until they are adults.
Doctors do not know exactly how common Shwachman-Diamond syndrome is, but it seems to be rare.
Shwachman-Diamond Syndrome at Seattle Children’s
Shwachman-Diamond syndrome is a rare, complex and serious disease. Your child needs care from experienced providers in several medical specialties. At Seattle Children’s, our team includes top experts in bone marrow disorders, gastroenterology, cancer, orthopedics and other medical specialties. Our multidisciplinary team understands how important it is to talk with you and with each other so that your child's care is comprehensive and coordinated.
Seattle Children’s works with the Seattle Cancer Care Alliance (SCCA) and the Fred Hutchinson Cancer Research Center to provide hematopoietic cell transplants (him-at-oh-poy-EH-tik) for children with SDS and other diseases that affect the blood. This treatment replaces the cells that your child's disease has damaged with new cells. The Hutchinson Center is a leader in these transplants. Each year, we do transplants for about 40 to 50 children. Our team uses special transplant treatments (called reduced-intensity conditioning regimens) that we have developed specifically for children with Shwachman-Diamond syndrome.
Seattle Children’s also works with our partners to do research on Shwachman-Diamond syndrome so we can understand the causes and develop better treatments. The Hutchinson Center is the home of the North American Shwachman-Diamond Syndrome Registry and Repository. A disease registry is a place where researchers keep information about people who have a certain disease so they can learn more about it. The registry will help doctors and researchers learn more about medical care and treatment for people with SDS through better understanding of the disease.