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. The patients' 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]

Burroughs et al found success in reducing toxicity while maintaining decreased morbidity, utilizing a combination of treosulfan, fludarabine, and thymoglobulin in patients with marrow failure disorders (including Shwachman-Diamond syndrome).^[87] Isaev et al reported the first successful hematopoietic stem cell transplantation for Shwachman-Diamond syndrome that was performed using an unaffected human leukocyte antigen (HLA)–matched sibling donor engendered via preimplantation genetic diagnosis.^[88]

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.^[89]

Aiming, through expert consensus, to derive recommendations concerning hematopoietic stem cell transplantation in Shwachman-Diamond syndrome, The European Society for Blood and Marrow Transplantation’s Severe Aplastic Anaemia Working Party indicated that survival in the transplantation procedure could be improved via “regular and structured hematologic follow-up.” The party also stated that transplant-related mortality can potentially be reduced by decreasing the intensity of conditioning regimens and limiting total body irradiation, with the early diagnosis of clonal malignant evolution being key to timely transplantation.^[90]

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.^[91]

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

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]

Diet

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

Activity

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

Medication

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Media Gallery

Autosomal recessive inheritance.

of 1

Author

Antoinette C Spoto-Cannons, MD, FAAP Associate Professor of Pediatrics, Department of Pediatrics, Primary Care Clerkship Co-Director, University of South Florida, Morsani College of Medicine

Antoinette C Spoto-Cannons, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, Association of American Medical Colleges, Council on Medical Student Education in Pediatrics, Florida Chapter of The American Academy of Pediatrics, Florida Pediatric Society, Gold Humanism Honor Society, Physicians for Social Responsibility

Disclosure: Nothing to disclose.

Coauthor(s)

Jessica Marie Keshishian, MD Resident Physician, Department of Pediatrics, University of South Florida

Jessica Marie Keshishian, MD is a member of the following medical societies: Alpha Omega Alpha, American Medical Student Association/Foundation, Christian Medical and Dental Associations

Disclosure: Nothing to disclose.

Sarah Syed University of South Florida College of Medicine

Sarah Syed is a member of the following medical societies: American Medical Student Association/Foundation

Disclosure: Nothing to disclose.

Mudra Kumar, MD, MRCP, FAAP Professor of Pediatrics, Course Director, Course 6 MSII, Preclerkship Director, Clinical Integration, Department of Pediatrics, University of South Florida Morsani College of Medicine

Mudra Kumar, MD, MRCP, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Hassan M Yaish, MD Medical Director, Intermountain Hemophilia and Thrombophilia Treatment Center; Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology, Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center

Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Sharada A Sarnaik, MBBS Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Associate Hematologist/Oncologist, Children's Hospital of Michigan

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, Children's Oncology Group, American Academy of Pediatrics, Midwest Society for Pediatric Research

Disclosure: Nothing to disclose.