Neoplasms

Heart and Blood Diseases

Blood and Lymph Conditions

Immune System Diseases

All Conditions

Nutritional and Metabolic Diseases

Symptoms and General Pathology

Nervous System Diseases

Diseases and Abnormalities at or Before Birth

Behaviors and Mental Disorders

Rare Diseases

Multiple Myeloma

Neoplasms, Plasma Cell

Monoclonal Gammopathy of Undetermined Significance

Deficiency Diseases

Splenomegaly

Gaucher Disease

Niemann-Pick Disease, Type A

Niemann-Pick Diseases

Niemann-Pick Disease, Type C

Frontotemporal Dementia

Aphasia, Primary Progressive

Pick Disease of the Brain

Paraproteinemias

Neoplasms by Histologic Type

Hemostatic Disorders

Blood Coagulation Disorders

Vascular Diseases

Blood Protein Disorders

Hematologic Diseases

Hemorrhagic Disorders

Lymphoproliferative Disorders

Immunoproliferative Disorders

Sphingolipidoses

Lysosomal Storage Diseases

Brain Diseases

Brain Diseases, Metabolic

Brain Diseases, Metabolic, Inborn

Central Nervous System Diseases

Metabolism, Inborn Errors

Genetic Diseases, Inborn

Lipidoses

Lipid Metabolism, Inborn Errors

Metabolic Diseases

Lipid Metabolism Disorders

Hypergammaglobulinemia

Malnutrition

Nutrition Disorders

Histiocytosis

Histiocytosis, Non-Langerhans-Cell

Lymphatic Diseases

Niemann-Pick Disease Type A

Niemann-Pick Disease

Frontotemporal Dementia, Ubiquitin-positive

Primary Progressive Aphasia

Semantic Dementia

Behavioral Variant of Frontotemporal Dementia

Niemann-Pick Disease Type C1

Sphingolipidosis

Non-Langerhans-Cell Histiocytosis

FEHH SEHH, MD

Xabier Gutiérrez López de Ocáriz, MD

Marta Gomez Nuñez, MD

Dolores Gómez Toboso, MD

Albert Pérez, MD

Erik del Cabo, MD

Carmen Albo López, MD

Andrés Medinaveitia, MD

Carmen Pérez Martínez, MD

Alejandro Ponce Navarro, MD

Beatriz Cuevas, MD

Yolanda González, MD

Antonio Cruz, MD

María Flor Yus Cebrián, MD

Juan Antonio López López, MD

Antonio García Guiñón, MD

María del Mar Meijón Ortigueira, MD

Pilar Llamas Sillero, MD

Alejandro Contento Gonzalo, MD

José Ángel Méndez Sánchez, MD

Javier de la Rubia, MD

Abelardo Bárez García, MD

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. 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.

Several studies have suggested that there is an increased frequency of MGUS (monoclonal gammopathy of undetermined significance) and/or multiple myeloma (MM) among Gaucher patients. Regarding ASMD (Acid Sphingomyelinase Deficiency), few studies have been published but it seems the 21% of patient with ASMD has MGUS and 15% ASMD patients have MGUS. Moreover, patients with MGUS and Gaucher disease (GD) are at increased risk of developing MM.

The objective of the present study is to increase the diagnostic sensitivity of these unknown splenomegalys, or unknown splenomegaly patients with MGUS or multiple myeoloma who remain in consultations, using the usual diagnostic clinical procedures of unknown splenomegaly and unknown splenectomy patients, where we 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.

GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma

GammaGA: Study of the Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma

Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)

Fundación Española de Hematología y Hemoterapía

Spots Global Cancer Trial Database for acid sphingomyelinase deficiency