Shwachman-Diamond syndrome
ICD-10 D61.02 is a billable code used to indicate a diagnosis of shwachman-diamond syndrome.
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder characterized by a triad of clinical features: pancreatic insufficiency, skeletal abnormalities, and hematological disorders, particularly aplastic anemia and bone marrow failure. The syndrome is caused by mutations in the SBDS gene, which plays a critical role in ribosome biogenesis and cellular function. Patients often present with recurrent infections due to neutropenia, failure to thrive, and gastrointestinal symptoms related to malabsorption. Hematological manifestations include varying degrees of bone marrow failure, leading to aplastic anemia, which can result in severe anemia, thrombocytopenia, and leukopenia. The diagnosis is typically confirmed through genetic testing and clinical evaluation. Management of SDS is multidisciplinary, focusing on supportive care, nutritional support, and monitoring for complications such as myelodysplastic syndromes and acute myeloid leukemia, which patients are at increased risk for. Regular follow-up is essential to address the evolving needs of these patients as they age.
Detailed blood work results, including CBC and bone marrow biopsy findings.
Management of anemia, monitoring for complications like myelodysplastic syndromes.
Need for clear documentation of the patient's hematological status and treatment plans.
Genetic testing results, family history, and counseling notes.
Assessment of genetic mutations and implications for family members.
Documentation must include the specific genetic mutation and its relevance to the clinical picture.
Used to monitor blood counts in patients with SDS.
Document the reason for the CBC and any abnormal findings.
Hematology specialists should ensure comprehensive reporting of results.
The primary symptoms include pancreatic insufficiency, recurrent infections due to neutropenia, skeletal abnormalities, and varying degrees of bone marrow failure leading to anemia and thrombocytopenia.
