Shwachman-Diamond Syndrome (SDS)

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Treatment Options

Severe symptomatic neutropenia may be treated with medications such as G-CSF or GM-CSF. Patients are treated for symptoms, like digestive problems, which should be reviewed by a gastroenterologist. Often taking pancreatic enzyme supplements and vitamin A, D, E, and K supplements are indicated.  Regular monitoring by a gastroenterologist familiar with SDS is recommended.

Patients with chronic neutropenia should practice good dental hygiene to avoid infections and prevent gingivitis and tooth loss.

Patients with problems with their immune systems may benefit from treatment with antibodies. The only curative therapy for severe marrow failure is bone marrow transplantation (hematopoietic stem cell transplant). Bone marrow transplant is also the treatment for leukemia in patients with SDS.

Patients may initially be referred to an endocrinologist so that treatable causes for short stature can be excluded. Growth hormones are used with those patients who have a deficiency in the hormone itself. It’s important for other aspects of a patient’s hormone production and levels to be monitored.