Acid SphingoMyelinase Deficiency, ASMD, Gaucher Disease, Niemann-Pick Diseases, Splenomegaly
Conditions
Brief summary
The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology. It has been described that 0.3% of hospital admissions is for this reason. The study and management of splenomegaly is well described among the different medical specialties to which these patients arrive. After the application of the different algorithms and the different studies that are carried out, these splenomegaly are identified as being of hepatic, infectious, inflammatory, congestive, hematological origin and primary causes. Despite these studies of splenomegaly, approximately 10-15% of these patients still remain undiagnosed. The objective of the present study is to increase the diagnostic sensitivity of these unknown splenomegalys, or unknown splenomegaly patients who remain in consultations, using the usual diagnostic clinical procedures of unknown splenomegaly and unknown splenectomy patients, where the investigators include the extraction of a blood sample for dry drop test (DBS), where the determination of the enzymatic/genetic activity will be carried out for Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) , analysis of LisoGl1 and LisoSM.
Interventions
OTHERPatient with splenomegaly or splenectomy
No interventional study
Sponsors
Fundación Española de Hematología y Hemoterapía
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Adult patients (over 18 years old) of both sexes. * Patients presenting signs, assessed instrumentally or via laboratory tests, of: * Unexplained splenomegaly, defined as a palpable spleen ≥ 1 cm below the costal margin or diagnosed by ultrasound, magnetic resonance imaging (MRI), or computed tomography (CT) of the spleen. * Splenectomized patients without a diagnosis of the cause of unexplained splenomegaly. * Patients who provide their consent to participate in the study.
Exclusion criteria
* Splenomegaly due to portal hypertension (documented by abdominal ultrasound or another instrumental test) caused by liver disease * Malignant hematologic tumor \[documented by positive physical examination + blood smear or fine-needle aspiration (FNA) or bone marrow biopsy\] * Hemolytic anemia and/or thalassemia * Patients unable to comply with the protocol requirements due to psychiatric and/or cognitive disorders, non-cooperative patients, or educational and written language comprehension limitations * Patient refusal to participate in the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) | 36 months | Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) |
Countries
Spain
Outcome results
None listed