From the Guidelines
Borderline splenomegaly requires a comprehensive workup, starting with a thorough history and physical examination, to determine its underlying cause and guide further management. The workup should include a complete blood count to assess for cytopenias or blood disorders, liver function tests to evaluate for portal hypertension, and infectious disease testing including EBV, CMV, HIV, and malaria in endemic areas 1. Imaging studies such as abdominal ultrasound should be used to confirm splenomegaly and assess splenic size accurately, followed by CT or MRI if more detailed evaluation is needed. Consideration of bone marrow biopsy is crucial if hematologic disorders are suspected, as it can provide valuable information for diagnosis and treatment planning 1. Additional specialized tests, including hemoglobin electrophoresis for hemoglobinopathies, serum protein electrophoresis for lymphoproliferative disorders, and autoimmune markers if connective tissue diseases are suspected, should be tailored based on clinical presentation and initial test results. It is essential to note that borderline splenomegaly may represent a normal variant in some individuals but can also be an early sign of significant underlying pathology, including hematologic malignancies, portal hypertension, or infectious diseases, making thorough evaluation critical for early diagnosis and management. The NCCN guidelines for myeloproliferative neoplasms and hairy cell leukemia provide valuable insights into the workup and management of splenomegaly, emphasizing the importance of a comprehensive approach to determine the underlying cause and guide treatment decisions 1. In the absence of specific guidelines for borderline splenomegaly, a systematic and tailored approach, as outlined above, is recommended to ensure optimal patient outcomes in terms of morbidity, mortality, and quality of life.
From the Research
Borderline Splenomegaly Workup
- The workup for borderline splenomegaly typically involves a combination of physical examination, laboratory tests, and imaging studies to determine the underlying cause of the condition 2, 3.
- Physical examination should assess for signs of systemic illness, liver disease, and anemia or other hematologic issues 2.
- Abdominal ultrasonography is recommended for confirmation of splenomegaly 2.
- Basic laboratory analysis, including complete blood count and liver function tests, can help identify potential causes of splenomegaly 2, 4.
- The most common causes of splenomegaly include liver disease, malignancy, and infection 2, 4.
Diagnostic Approach
- A logical approach to the patient with splenomegaly involves considering the aetiology of the condition in the developed world 3.
- In some cases, extensive radiological and laboratory investigations may fail to yield a diagnosis, resulting in "isolated" splenomegaly 3.
- The risks of serious underlying disease must be balanced against the risks of invasive investigations such as splenic biopsy and diagnostic splenectomy 3.
Underlying Causes
- Haematological diseases are the most common underlying cause of splenomegaly, accounting for approximately 39% of cases 4.
- Hepatic diseases, including liver cirrhosis, are also a common cause of splenomegaly, accounting for approximately 18% of cases 4.
- Infectious diseases and other conditions can also cause splenomegaly, although the underlying cause may remain unknown in up to 25% of cases 4.