Observational studyOrphanet journal of rare diseases2025
SplenoMegaly study (SMS): exploring the etiologies for "unexplained" splenomegalies in the real world.
Observational study in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04430881 (The SMS Study, a National Study on Prevalence of Unexplained Splenomegaly Etiologies), which is not on this map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
The SMS Study, a National Study on Prevalence of Unexplained Splenomegaly Etiologies
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Authors and funding
11 authors.
Funding
Abstract
backgroundThe predominant etiologies of splenomegaly (SM) are readily discernible through routine clinical assessments, yet in numerous instances, the etiological basis remains elusive. Subsequent diagnostic steps are not consensual and are challenging for physicians due to miscellaneous causes and non-specific symptoms. This study aimed to estimate the prevalence of Gaucher disease (GD) and other etiologies in patients presenting with unexplained splenomegaly (SM) after exclusion of first intention-diagnoses (e.g., portal hypertension, hematological malignancy, hemolytic anemia, and infection) based on basic physical examination, patient interview, and routine biological exams (e.g., full blood count, liver enzymes, and reticulocyte count). Additionally, the study aimed to describe the diagnostic tests performed and the most frequent associations observed. This French prospective, observational, multicenter, longitudinal SMS study enrolled 505 patients from September 2015 to April 2020, aged ≥ 15 years, referred to hematology or internal medicine departments, with a diagnostically confirmed SM (spleen length ≥ 13 cm). SM was defined as unexplained when routine clinical and biological tests were negative. Patients were followed up until an etiology was identified or up to 18 months after inclusion.
resultsAn etiology of SM was found in 223 (44.5%) of 501 patients with follow up. Patients with explained SM were older, had a larger spleen, and had altered biological parameters compared with patients with unexplained SM. There was a higher prevalence of non-malignant diseases than hematological malignancies (27.1% vs. 17.0%). Overall, lysosomal storage diseases (LSDs) were diagnosed in 10 patients (2.0%), including 4 patients with GD (0.8%).
conclusionsA list of potential predictive factors for the main diagnostic categories was identified that could optimize the diagnostic strategy for unexplained SM. This study provides new insights into exploring SM in the real world and proposes clinical and biological factors associated with specific etiologies. CLINICAL
trial registrationNCT04430881.
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