eMedicine Specialties > Pediatrics: General Medicine > Hematology
Shwachman-Diamond Syndrome: Follow-up
Updated: Sep 30, 2009
Follow-up
Deterrence/Prevention
- No prevention for Shwachman-Diamond syndrome (SDS) is known.
- Advise parents to obtain genetic counseling.
- Currently, the medical profession is unable to detect the carrier state of this disease.
Complications
- Malabsorption due to pancreatic insufficiency
- Diarrhea
- Hypoproteinemia
- Fat-soluble vitamin deficiencies
- Failure to thrive20
- Recurrent bacterial infections (eg, upper respiratory tract infections, otitis media, sinusitis, pneumonia, aphthous stomatitis, skin infections, paronychia, osteomyelitis, bacteremia); patients at risk for overwhelming sepsis21
- Hearing loss secondary to recurrent otitis media
- Predilection for developing bone marrow failure and leukemic transformation in 5-33% of patients with Schwachman-Diamond syndrome49
- Frequency increases with age.
- Acute myeloid leukemia, acute lymphoid leukemia, and juvenile chronic myeloid leukemia have been reported in patients with Schwachman-Diamond syndrome.
- Hemosiderosis secondary to multiple red cell transfusions
- Coxa vara deformity
- Osteopenia, osteoporosis43
- Cirrhosis of the liver
Prognosis
Long-term prognosis for individuals with Schwachman-Diamond syndrome is uncertain and varies.
- Patients with Schwachman-Diamond syndrome are at an increased risk of infection secondary to neutropenia and a neutrophil migration defect. Sepsis and death may occur.21
- 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.25,48 Even after stem cell transplantation, the prognosis in these patients is poor, mainly due to organ toxicity related to treatment (specifically cardiotoxicity).11 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.53
Patient Education
- 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.
Miscellaneous
Medicolegal Pitfalls
- Failure to consider Shwachman-Diamond syndrome if the patient has pancreatic insufficiency and a negative finding on sweat test
- Failure to avoid underdiagnosis, which is caused by lack of awareness of this condition
More on Shwachman-Diamond Syndrome |
| Overview: Shwachman-Diamond Syndrome |
| Differential Diagnoses & Workup: Shwachman-Diamond Syndrome |
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Follow-up: Shwachman-Diamond Syndrome |
| Multimedia: Shwachman-Diamond Syndrome |
| References |
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References
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Further Reading
Keywords
Shwachman-Diamond syndrome, SDS, bone marrow dysfunction, pancreatic insufficiency, short stature, congenital lipomatosis of pancreas, metaphyseal dysplasia, pancreatic hypoplasia, marrow dysfunction, pancreatic hypoplasia, marrow dysfunction, metaphyseal dysplasia, Shwachman-Bodian syndrome, Shwachman-Diamond-Oski-Knaw syndrome, cystic fibrosis, Fanconi anemia, Blackfan-Diamond, skeletal dysplasia, osteoporosis, upper respiratory tract infections, otitis media, sinusitis, pneumonia, aphthous stomatitis, skin infections, paronychia, osteomyelitis, bacteremia, myelodysplastic syndrome, MDS, leukemia, malabsorption, imperforate anus, Hirschsprung disease, constipation, diarrhea, hearing loss, tooth enamel defects, hypomaturation, hypocalcification, hypoplasia, treatment, diagnosis
Follow-up: Shwachman-Diamond Syndrome