What is Shwachman Diamond syndrome?

Shwachman Diamond syndrome (SDS) is a rare blood disorder that affects the pancreas, bone marrow and skeleton, as well as other organs. SDS is caused by a genetic mutation.

What are the symptoms of Shwachman Diamond syndrome?

SDS is characterized by:

• A poorly functioning pancreatic gland which does not produce enough of the enzymes that digest fats, proteins and carbohydrates.
• Growth failure with poor weight and height gain.
• Bone marrow failure, which may cause patients to have a decrease in any or all types of blood cells.
• Neutropenia, which occurs when the bone marrow does not produce enough white blood cells (particularly neutrophils). This can cause bacterial infections which can be life threatening.
• Thrombocytopenia, which occurs when the bone marrow does not produce enough platelets necessary to prevent bleeding or bruising. 
• Subtle bone abnormalities have been reported in 10 to 15% of patients. X-ray changes are most commonly seen in the hip, femur, tibia and ribs.

Additional signs and symptoms include:

• Diarrhea
• Stools containing an excessive amount of fat, foul smelling and greasy in appearance
• Failure to thrive (poor weight gain)
• Frequent infections
• Bone abnormalities
• Liver or gastrointestinal (GI) changes
• Abnormal lung function
• Hormonal imbalances
• Tooth abnormalities

How is Shwachman Diamond syndrome diagnosed?

SDS is usually diagnosed in infancy with a physical exam, medical history and blood and genetic testing. Because SDS patients also have a predisposition to myelodysplasia or leukemia, bone marrow aspirates and biopsies are recommended to confirm the diagnosis and determine any additional abnormalities.

How is Shwachman Diamond syndrome treated?

At Children’s Hospital of Philadelphia (CHOP), patients with SDS are cared for by a multidisciplinary team of experts from the Division of Hematology; Division of Gastroenterology, Hepatology, and Nutrition; Division of Endocrinology; Division of Pulmonary and Sleep Medicine; and the Neuropsychology and Assessment Service.

Therapies may or may not include:

• Pancreatic enzyme replacement
• Medication to stimulate the bone marrow in the production of neutrophils
• Bone marrow transplant
• Hormone replacement
• Neuro-Psychology evaluation