• Shwachman-Diamond Syndrome

    Shwachman-Diamond syndrome (SDS) is a rare, inherited bone marrow failure, characterized by a low number of white blood cells, poor growth due to difficulty absorbing food and, in some cases, skeletal abnormalities. The condition is named for Boston Children's Hospital doctors Harry Shwachman, MD, and Louis Diamond, MD (who later established Dana-Farber/Boston Children's Cancer and Blood Disorders Center), who were among the researchers to first describe it in 1964. Most infants with SDS are born with the condition, with symptoms usually appearing by four to six months of age.

    Shwachman-Diamond Syndrome Treatment at Dana-Farber/Boston Children's

    Children with Shwachman-Diamond syndrome are treated at Dana-Farber/Boston Children's through our Bone Marrow Failure Program, recognized as one of the nation’s best pediatric treatment and research programs for bone marrow failure and related conditions. Our patients have access to advanced treatments and diagnosis, including DNA mutation identification and ongoing clinical trials investigating new treatments.

    What causes Shwachman-Diamond syndrome?

    Shwachman-Diamond syndrome is caused by mutations in a gene called SBDS. It takes two copies of the defective gene – one copy from each parent – to cause the disease. In most cases, the parents show no signs of the syndrome.

    Genetic tests can identify the precise mutation in about 90 percent of children with SDS. It is believed that an as-yet-unidentified gene is responsible for the remaining 10 percent.

    What are the symptoms of Shwachman-Diamond syndrome?

    Shwachman-Diamond syndrome can vary greatly from child to child, but affects several body systems, including the bone marrow, pancreas and skeleton (and occasionally the liver and teeth). The most common symptoms of SDS are:

    • Chronic, often greasy and foul-smelling diarrhea
    • Frequent infections due to low white blood cell counts
    • Poor growth
    • Pale skin
    • Lack of energy or tiring easily (fatigue);
    • Bruising, or a red or purple pinpoint rash on the face or body
    • Bleeding (for example bleeding gums, nosebleeds, blood in the stool)
    • Skeletal abnormalities, including growth plate changes, rib cage deformities, scoliosis (curvature of the spine), delayed tooth development, dental abscesses, cavities and gum problems

    After cystic fibrosis, SDS is the next most common cause of pancreatic insufficiency, which makes it difficult for patients to digest and absorb food.

    Children with SDS have a higher than normal risk of developing blood disorders like myelodysplastic syndrome (MDS) and leukemia.

    How is Shwachman-Diamond syndrome diagnosed?

    Doctors diagnose Shwachman-Diamond syndrome with:

    • Blood work to evaluate red blood cells, white blood cells and platelets
    • Kidney, liver and pancreatic function tests
    • Pancreatic stimulation testing – to measure the ability of the pancreas to respond to secretin, a hormone involved in food absorption
    • Stool collection
    • Skeletal survey to evaluate bones
    • Bone marrow biopsy and aspiration—marrow may be removed by aspiration and a needle biopsy under local anesthesia and conscious sedation so that the child remains calm and comfortable during the procedure. In a bone marrow aspiration, a fluid specimen is removed from the bone marrow. In a needle biopsy, marrow cells (not fluid) are removed. These methods are always used together.
    • Genetic testing

    After all tests are completed, doctors will be able to outline the best treatment options.

    What are the Shwachman-Diamond syndrome treatment options?

    Patients with Shwachman-Diamond syndrome usually require care from specialists in hematology, gastroenterology, endocrinology and orthopedics. Treatment of SDS includes:

    • Pancreatic enzyme replacement – to help break food down into smaller, more absorbable nutrients
    • Intravenous antibiotics – especially when white blood cell counts are low
    • Growth factor therapy with granulocyte colony stimulating factor (G-CSF) – to stimulate the bone marrow to make more white blood cells
    • Orthopedic surgery – depending on specific skeletal problems
    • Blood transfusion – for children at high risk of anemia and/or bleeding
    • Ongoing regular dental care

    What is the latest research on Shwachman-Diamond syndrome?

    In addition to providing information and access to local and national research initiatives, our clinic offers multidisciplinary care (physician specialists, dentists, nurse practitioners, social workers) and consultative services for patients with Shwachman-Diamond syndrome.

    Dana-Farber/Boston Children's is a leading member of the Shwachman-Diamond Syndrome Registry, which works with patients to collect blood and bone marrow for research of Shwachman-Diamond syndrome. Collections and registries like this help researchers and physicians better understand genetic and molecular aspects of disease and how they relate to patients' clinical outcomes – first steps to identifying possible new treatments. In addition, Dana-Farber/Boston Children's physician-scientists are investigating the role of molecules called microRNAs (which can control how genes are expressed) in SDS.

    What is the long-term outlook for children with SDS?

    With modern treatment options and ongoing management, most children with Shwachman-Diamond syndrome lead normal lives, although continued medications and regular monitoring through hospital visits are usually required. These are typically annual visits for children without any major problems or more frequently for those with complications.

    Children with SDS have a small but significant chance of developing blood disorders such as myelodysplastic syndrome (MDS) or leukemia. Nearly 5 percent of children with the condition will develop leukemia, with the risk rising to 25 percent by adulthood.

    In addition, recurring infections, including pneumonia, ear and skin infections, are common. Many children with SDS also have growth problems and vitamin A, D, E and K deficiencies.

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