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About Shwachman Diamond Syndrome

Shwachman Diamond Syndrome is an inherited bone marrow failure disease. The main features include pancreatic insufficiency, haematologic abnormalities, skeletal abnormalities, and short stature. Other organs in addition to the pancreas also may be affected. Shwachman Diamond Syndrome is the second most common cause of pancreatic insufficiency, Cystic Fibrosis being the most common. Shwachman Diamond Syndrome patients who are pancreatic insufficient have a decreased ability to digest food because the cells of the pancreas, where enzymes are produced, do not work properly. Children and adults who are pancreatic insufficient often take pancreatic enzyme supplments before each meal to help them digest food.

Neutropenia may be intermittent or persistent and is the most common haematological finding. Neutropenia occurs where the body does not produce enough neutrophils, which are the type of white blood cell that fight bacterial infections. Infections in a neutropenic person can quickly become life-threatening and often require hospitalization. Other types of blood cells, like red blood cells and platelets, can also be affected.

Early symptoms may include failure to thrive, feeding problems, and recurrent bacterial infections. Growth often remains below normal.

Patients with Shwachman Diamond Syndrome have an increased risk of developing Leukemia. Increased signs of bone marrow failure often lead to a bone marrow transplant. Patients with Shwachman Diamond Syndrome who undergo bone marrow transplant have elevated occurrence of BMT-related adverse events, including grant-versus-host disease (GVHD) and toxicity relating to the pre-transplant conditioning regimen.

It is not uncommon for a child with Shwachman Diamond Syndrome to go undiagnosed for months or even years. Unfortunately, few phyicians recognize the signs of Shwachman Diamond Syndrome and the disease goes undiagnosed. In addition, few medical centers are equipped to offer the specialized diagnostic, treatment, and research facilities required for the comprehensive management of children with Shwachman Diamond Syndrome. Fortunately, Seattle Children's Hospital in Seattle, Washington is one of the few medical centers in the nation that is equipped to address Shwachman Diamond Syndrome and has doctors experienced with the disease.

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