Diagnosis and Management of Splenomegaly
Splenomegaly is almost always a sign of an underlying systemic condition that requires comprehensive evaluation to determine its etiology and appropriate treatment. 1
Diagnostic Approach
Definition and Confirmation
- Splenomegaly is defined as spleen length greater than 13 cm when measured in the coronal plane on imaging studies 2
- Mild splenomegaly is considered a spleen size of 11-13 cm in length 3
- Abdominal ultrasonography is recommended for confirmation of splenomegaly suspected on physical examination 1
Initial Laboratory Evaluation
- Complete blood count with peripheral smear examination is essential to evaluate for abnormal cells suggestive of hematologic malignancy 3
- Reticulocyte count should be included in the initial evaluation 2
- Assessment for signs of systemic illness that commonly cause splenomegaly, including hematologic malignancies (lymphoma, leukemia), is necessary 2
Common Etiologies
- The most common causes of splenomegaly in the United States are liver disease, malignancy, and infection 1
- Myeloproliferative neoplasms (primary myelofibrosis, polycythemia vera, essential thrombocythemia) are common causes of splenomegaly 2, 4
- Indolent lymphomas (chronic lymphocytic leukemia, hairy cell leukemia, splenic marginal zone lymphoma) frequently present with splenomegaly 4
- Infectious causes, particularly malaria and schistosomiasis, are common in tropical regions 1
Advanced Diagnostic Testing
- Bone marrow aspiration and biopsy are recommended to evaluate for myeloproliferative disorders, lymphoproliferative disorders, and infiltrative processes 3
- Molecular testing for JAK2, CALR, and MPL mutations is recommended to evaluate for myeloproliferative neoplasms 3
- Abdominal CT scan may be appropriate in patients with suspected splenomegaly on initial physical examination 5
Management Approach
General Principles
- Treatment should be directed at the underlying cause of splenomegaly once diagnosed 3
- Regular monitoring of spleen size is recommended during treatment of the underlying condition 2
Treatment of Specific Causes
Myeloproliferative Disorders
- JAK inhibitors, such as ruxolitinib, are recommended as first-line therapy for symptomatic splenomegaly in myeloproliferative disorders 2
- Hydroxyurea is an alternative option for controlling symptomatic splenomegaly, with an approximate 40% response rate 2
- For patients with anemia associated with myeloproliferative disorders, erythropoiesis-stimulating agents, androgens, or danazol may be used 2
Lymphoproliferative Disorders
- Lymphoma requires chemotherapy regimens appropriate for the specific lymphoma subtype 2
- For patients with lymphoma, response assessment should include measurement of spleen size, with regression of splenomegaly being part of treatment response criteria 2
Infections
- Infections causing splenomegaly should be treated with appropriate antimicrobial therapy 2
Surgical Management
- Splenectomy is generally not indicated for splenomegaly unless there are complications such as refractory symptoms despite medical management 2
- In cases of massive splenomegaly (spleen weight >1000g or dimension >20cm), splenectomy may be considered to relieve pressure on adjacent organs and provide definitive histopathological diagnosis 6
- For splenic abscesses, percutaneous drainage is preferred over splenectomy when technically feasible to preserve splenic function 2
Complications and Precautions
- Patients with splenomegaly are at risk of cytopenias due to splenic sequestration, splenic infarction, and infection risk if splenic function is compromised 2
- People with splenomegaly should refrain from participating in contact sports to decrease risk of rupture 1
- Any patient with limited splenic function requires increased vaccination and prophylactic antibiotics for procedures involving the respiratory tract 1
- For patients with myeloproliferative disorders and iron overload, consider iron chelation therapy if ferritin exceeds 1000 μg/L 2