Shwachman-Diamond Syndrome Follow-up

Updated: Sep 09, 2022
  • Author: Antoinette C Spoto-Cannons, MD, FAAP; Chief Editor: Hassan M Yaish, MD  more...
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See the list below:

  • No prevention for Shwachman-Diamond syndrome is known.

  • Advise parents to obtain genetic counseling.

  • A genetic test for carrier status is available. All siblings of patients with Shwachman-Diamond syndrome should undergo genetic testing. Persons who carry a single Shwachman-Diamond syndrome mutation do not have clinical symptoms.



See the list below:

  • Malabsorption due to pancreatic insufficiency

    • Diarrhea

    • Hypoproteinemia

    • Fat-soluble vitamin deficiencies

  • Failure to thrive [43]

  • Recurrent bacterial infections (eg, upper respiratory tract infections, otitis media, sinusitis, pneumonia, aphthous stomatitis, skin infections, paronychia, osteomyelitis, bacteremia); patients at risk for overwhelming sepsis [5]

  • Hearing loss secondary to recurrent otitis media

  • Predilection for developing bone marrow failure and leukemic transformation in 5-33% of patients with Shwachman-Diamond syndrome [84]

    • Frequency increases with age.

    • Acute myeloid leukemia, acute lymphoid leukemia, and juvenile chronic myeloid leukemia have been reported in patients with Shwachman-Diamond syndrome.

  • Hemosiderosis secondary to multiple red cell transfusions

  • Coxa vara deformity

  • Slipped femoral epiphysis [76]

  • Kyphosis and scoliosis [76]

  • Osteopenia, osteoporosis [74]

  • Cirrhosis of the liver

  • ADHD and learning difficulties [77]

  • Diastolic dysfunction and depressed left ventricular contractility during stress [78]



Long-term prognosis for individuals with Shwachman-Diamond syndrome is uncertain and varies.

Patients with Shwachman-Diamond syndrome are at an increased risk of infection secondary to neutropenia and a neutrophil migration defect. Sepsis and death may occur. [5]

An increased incidence of myelodysplasia and transformation to acute myeloid leukemia is reported. Acute myeloid leukemia is usually unresponsive to conventional chemotherapy and requires allogenic hematopoietic stem cell transplantation. [10, 11] Even after stem cell transplantation, the prognosis in these patients is poor, mainly due to organ toxicity related to treatment (specifically cardiotoxicity). [31] This has led to a new debate regarding whether patients with Shwachman-Diamond syndrome have a predisposed myocardium, through genetic mechanisms, which become clinically significant after stress of treatment with cardiotoxic conditioning regimens such as whole-body radiation and cyclophosphamide. [92]


Patient Education

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  • Educate families on all aspects of this disease and the importance of notifying a physician whenever the patient has a fever or is not acting well.