Shwachman-Diamond Syndrome Treatment & Management

Updated: Aug 09, 2019
  • Author: Antoinette C Spoto-Cannons, MD, FAAP; Chief Editor: Hassan M Yaish, MD  more...
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Treatment

Medical Care

The goals of Shwachman-Diamond syndrome (SDS) treatment include (1) pancreatic enzyme supplementation, (2) prevention or treatment of serious and/or invasive infections with early attention to febrile illnesses, (3) correction of hematologic abnormalities when possible, and (4) prevention of orthopedic deformities. [4]

A significant proportion of patients with Shwachman-Diamond syndrome require pancreatic enzymes, a low-fat diet, multivitamins, and fat-soluble vitamins; however, the needs of these patients may decrease with age. Treatment of pancreatic insufficiency only slightly improves growth. [68, 81]

When patients with Shwachman-Diamond syndrome experience an acute febrile illness, obtain bacterial cultures because of the increased risk of sepsis from the neutrophil migrational defect with or without neutropenia observed in these patients. Empiric treatment with parenteral, broad-spectrum antibiotics may be indicated. Additionally, prophylactic antibiotics may be necessary to help prevent infection.

No therapy has been successful in completely reversing neutropenia, anemia, or thrombocytopenia. [68]

Neutropenia may be treated by granulocyte colony-stimulating factor (GCSF). However, its risk of accelerating the development of myeloproliferative disorders remains to be determined.

Lithium and thiamine were used in the past to improve chemotactic performance; [82, 7, 83] however, their use has fallen out of favor since the advent of recombinant growth factor in the 1990s.

Neutropenia has not been improved by the administration of fresh frozen plasma, vitamin B-12, folic acid, pyridoxine, riboflavin, methionine, prednisolone, anabolic steroids, vitamin A, vitamin E, or pancreatic extract. [44]

Anemia and thrombocytopenia may require repeated transfusions if the patient is symptomatic. Additionally, erythropoietin may be beneficial in the treatment of anemia.

Lymphoproliferative and myeloproliferative malignancies and aplastic marrow observed in patients with Shwachman-Diamond syndrome are usually unresponsive to standard chemotherapy and require allogenic hematopoietic stem cell transplantation. [10, 11] These patients are at high risk for complications after bone marrow transplant. Numerous factors may contribute to this high complication rate. Their underlying hematologic abnormalities and high reported rate of nonspecific organ malfunctions may place them at higher risk for the development of toxicities. [84] In an attempt to reduce toxicity, preparative regimens avoiding the combination of busulfan and cyclophosphamide have been tried. [85] Reduced-intensity conditioning was associated with excellent donor cell engraftment and modest morbidity. [86]

Andre et al found that mesenchymal stem cells from patients with Shwachman-Diamond syndrome function normally and may have a positive influence on the success of hematopoietic stem cell transplantation. [87]

Growth hormone has been used to treat children with Shwachman-Diamond syndrome who have growth hormone deficiency. The initial response is good; however, long-term therapy with growth hormone is unsuccessful. [88]

Appropriate orthopedic follow-up of metaphyseal dysplasia may prevent deformities.

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Consultations

See the list below:

  • Pediatric gastroenterologist - For management of pancreatic insufficiency

  • Pediatric endocrinologist - For pancreatic insufficiency, short stature, and delayed puberty

  • Pediatric immunologist - For neutropenia, neutrophil migrational defects, and immunoglobulin deficiencies

  • Pediatric oncologist - For routine bone marrow aspirations, which are indicated for early detection of aplasia and lymphoproliferative and myeloproliferative malignancies

  • Pediatric infectious diseases specialist - To help treat unusual infections that may occur from neutropenia and a neutrophil migrational defect

  • Clinical geneticist - For parent counseling and chromosome studies

  • Pediatric orthopedic surgeon - To manage skeletal abnormalities (Special attention is required for metaphyseal dysplasia because of the risk of significant deformities, particularly in knees and hips.) Surgical intervention is considered only if abnormalities poise problems with ambulation. [63]

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Diet

A low-fat diet may be necessary depending on the degree of malabsorption.

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Activity

No limitations on activity are necessary for individuals with Shwachman-Diamond syndrome, unless thrombocytopenia is observed.

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