RESUMEN
PURPOSE: The aim of this study was to compare liver size measurements in different conventional B-mode ultrasound image (US) field views using magnetic resonance imaging (MRI) measurement as a reference. METHODS: After receiving Institutional Review Board approval and informed consent, three operators measured the largest sagittal and transverse dimensions of adult livers on three US image field views (90°, 120°, and 140°) with a single curvilinear transducer. We analyzed the differences in liver size across three image field views using one-way analysis of variance (ANOVA) and examined the correlations between MRI and ultrasound measurements using Spearman regression. We used 95% Bland-Altman limits of agreement (95% LOA) to analyze the confidence interval for liver size measurements between MRI and US. Intra-observer and inter-observer reliability in measuring liver size were assessed using intraclass correlation coefficient (ICC). RESULTS: Based on sagittal liver length, 28 adult participants (7 men and 21 women, mean age 43 years) were divided into Group 1 (<17 cm, n = 10) or Group 2 (≥17 cm, n = 18). There was a significant difference in the liver size measurements across the three image field views (P < .001) in both groups. The highest correlation in liver size measurements between MRI and US was with ultra-wide-view (R2 = .87 in sagittal; R2 = .79 in transverse). Bland-Altman LOA also indicated good agreement between MRI and ultra-wide-view measurements. Intra-observer and inter-observer reliability in measuring liver size were good (ICC = 0.82-0.98). CONCLUSION: The study suggests that ultrasound ultra-wide-view provides the most accurate liver size measurement and good intra- and inter-operator reliability.
RESUMEN
Clinical manifestations of congenital syphilis (CS) include liver disease with/without impaired liver function, identified as syphilitic hepatitis. Hepatic involvement may be dramatic; therefore, early diagnosis is crucial to provide treatment and prevent fatal outcomes. A new resurgence of CS cases has been described in recent years worldwide. We reported our experience with a case series of infants hospitalized for liver disease with a final diagnosis of CS, highlighting the wide spectrum of liver involvement, the rapid progression in cases with late diagnosis, and the pitfalls of the management of this forgotten but reemerging disease. A retrospective analysis of CS patients with hepatic presentation in the period 2008-2023 was conducted. We collected five cases (three female) with a median age of 13.8 days (range 1-84 days). In three cases, mothers were not screened for syphilis during pregnancy, and in two cases, they were seronegative in the first trimester screening. None practiced specific therapy during pregnancy. Hepatic involvement was characterized by hepatosplenomegaly, in four cases associated with cholestatic jaundice and in three cases with liver failure. Rapid plasma reagin (RPR) and Treponema pallidum hemagglutination assay (TPHA) were positive in all cases in mothers and infants. CS presented with multiorgan involvement and was fatal in one case.Conclusions: It is important to consider CS in infants with cholestasis and acute liver failure, but also in sick infants with isolated hepatomegaly. Early recognition of infants with CS is critical to identify missed cases during pregnancy and to start early treatment.
RESUMEN
Mauriac syndrome is a rare complication of longstanding, poorly controlled type 1 diabetes in pediatric patients. Mauriac syndrome is characterized by hepatomegaly and growth retardation. This case report discusses a 14-year-old girl with persistent, poorly controlled type 1 diabetes mellitus (T1DM) admitted to the pediatric intensive care unit (PICU), where she was ultimately diagnosed with Mauriac syndrome. The patient presented with severe hypoglycemia and a history of multiple admissions for diabetes ketoacidosis (DKA) despite insulin therapy. The patient had a history of poor glycemic control and growth retardation, and on physical exam, she was found to have hepatomegaly. Based on clinical presentation, history of poorly controlled diabetes hepatomegaly, imaging, and laboratory findings, the diagnosis of Mauriac syndrome was made. Management of the patient included diabetes education, optimizing insulin therapy, nutritional support, and closely monitoring labs in a multi-disciplinary approach. The patient responded well to insulin therapy and was started on closed-loop insulin administration. Liver enzymes and hepatomegaly normalized, and growth parameters improved over the subsequent months. This case emphasizes the importance of early recognition, monitoring, and management of an extremely rare syndrome that is crucial in preventing the short-term complications of lactic acidosis and rapidly progressing retinopathy and the long-term complications of hepatic dysfunction and growth impairment.
RESUMEN
Cytokine storm syndrome (CSS) is a severe life-threatening condition characterized by a clinical phenotype of overwhelming systemic inflammation, hyperferritinemia, hemodynamic instability, and multiple organ failure (MOF), and, if untreated, it can potentially lead to death. The hallmark of CSS is an uncontrolled and dysfunctional immune response involving the continual activation and expansion of lymphocytes and macrophages, which secrete large amounts of cytokines, causing a cytokine storm. Many clinical features of CSS can be explained by the effects of pro-inflammatory cytokines, such as interferon (IFN)-γ, tumor necrosis factor (TNF), interleukin (IL)-1, IL-6, and IL-18 [1-7]. These cytokines are elevated in most patients with CSS as well as in animal models of CSS [8, 9]. A constellation of symptoms, signs, and laboratory abnormalities occurs that depends on the severity of the syndrome, the underlying predisposing conditions, and the triggering agent.
Asunto(s)
Síndrome de Liberación de Citoquinas , Citocinas , Humanos , Síndrome de Liberación de Citoquinas/inmunología , Síndrome de Liberación de Citoquinas/sangre , Citocinas/metabolismo , Animales , Insuficiencia Multiorgánica/inmunología , Insuficiencia Multiorgánica/etiologíaRESUMEN
Pediatric MASLD (previously referred to as NAFLD) incidence has continued to rise along with the obesity pandemic. Pediatric MASLD increases the risk of liver fibrosis and cirrhosis in adulthood. Early detection and intervention can prevent and reduce complications. Liver biopsy remains the gold standard for diagnosis, although imaging modalities are increasingly being used. We performed a retrospective study of 202 children seen in a pediatric gastroenterology clinic with a complaint of abdominal pain, elevated liver enzymes or MASLD, or a combination of the three to evaluate screening methods for MASLD. A total of 134 of the 202 patients included in the study underwent laboratory testing and abdominal ultrasound. Ultrasound images were reviewed with attention to liver size and echotexture by a fellowship-trained pediatric radiologist for liver size and echotexture. Overall, 76.2% of the initial radiology reports correctly identified hepatomegaly based on age and 75.4% of the initial radiology reports correctly described hepatic echogenicity that was consistent with increased hepatic fat deposition. Use of screening ultrasound in concert with other clinical evaluations can be helpful to identify children at risk of MASLD. Utilizing ranges for liver span according to age can help to diagnose hepatomegaly, and understanding how to identify hepatic echogenicity is important for identifying possible hepatic steatosis.
RESUMEN
Glycogen storage disorders (GSDs) encompass a group of metabolic disorders resulting from deficiencies in enzymes involved in glycogen synthesis or breakdown. Among these, GSD type IX manifests due to a deficiency in phosphorylase kinase enzyme, leading to liver-specific, muscle-specific, or combined forms of the disorder. We present a case report of an exceedingly rare deletion-type mutation in the phosphorylase kinase B (PHKB) gene causing GSD type IXb, offering a comprehensive evaluation of clinical, laboratory, and molecular findings. A one-year and four-month-old male, born of third-degree consanguinity, presented with delayed motor milestones, hypotonicity, short stature, doll-like facies, and hepatosplenomegaly. Preliminary investigations revealed fasting hypoglycemia, ketonuria, elevated liver enzymes, and histological evidence of glycogen accumulation. Whole exome sequencing identified a homozygous deletion encompassing exons 2 to 10 of the PHKB gene, confirming the diagnosis of GSD IXb. GSD IXb due to PHKB mutations is rare, comprising only 10% of liver-specific GSD IX cases. Compared with similar cases reported in the literature, our analysis highlights the genetic heterogeneity within this subtype. Although clinical manifestations may overlap, specific genetic alterations vary, indicating that an individualized diagnostic approach is needed.
RESUMEN
Hepatic glycogenosis (HG) is a rare complication of poorly controlled type 1 diabetes mellitus (T1DM), in which glycogen accumulates in the hepatocytes. It can be caused by excessive insulin doses or recurrent ketoacidosis episodes. Mauriac's syndrome is a rare disease that includes short stature, growth maturation delay, dyslipidemia, moon facies, protuberant abdomen, and hepatomegaly with transaminase elevation. It is clinically classified into two varieties based on the presence or absence of obesity and cushingoid appearance. Clinical, laboratory, and histological abnormalities are reversible with appropriate glycemic control. Our case is a 17-year-old male who had been a known case of T1DM for 15 years and presented with complaints of blurring of vision, facial puffiness, frequent urination, breathlessness, and generalized abdominal pain. Patient examination revealed cushingoid facies, abdominal distension due to hepatomegaly, and stunted growth with an altered lipid profile. He showed a very high sugar reading and was admitted for diabetic ketoacidosis. He was explained the proper diet and insulin administration technique and discharged with proper insulin dosages. On management, he showed normalization of liver enzymes and improved fat distribution with normal liver size. Thus, Mauriac syndrome is a reversible glycogen storage disease that can be completely managed with strict and continuous glycemic control in prepubertal T1DM patients.
RESUMEN
BACKGROUND: Aborted bariatric surgeries are an undesirable experience for patients as they are subjected to potential physical harm and emotional distress. A thorough investigation of aborted bariatric surgeries has not been previously reported. This information may allow the discovery of opportunities to mitigate the risk of aborting some bariatric operations. METHODS: Data from the Michigan Bariatric Surgery Collaborative, a statewide bariatric surgery registry, were used to identify all aborted primary bariatric operations from June 2006 through January 2023. The reasons for aborting surgery were divided into seven categories. Stepwise logistic regression was performed to identify independent predictors of aborted procedures for potentially modifiable factors. RESULTS: A total of 115,004 patients underwent bariatric surgery with 555 (0.48%) procedures aborted. Of those having an aborted operation the mean age was 52 years and mean BMI was 49.8 with females accounting for 72%. Sleeve gastrectomy had the lowest aborted rate (0.38%) as compared to gastric bypass, adjustable gastric banding, and biliopancreatic diversion (p < 0.0001). The most common aborted surgery reason categories included adhesions and hernias, tumors and anatomic anomalies, and inadequate visualization due to either hepatomegaly or abdominal wall thickness. The most significant (p < 0.0001) independent predictors of aborted surgeries due to hepatomegaly or abdominal wall thickness were BMI ≥ 60 (OR 10.7), BMI 50 to 59 (OR 3.1) and diabetes mellitus (OR 2.7). Preoperative weight loss was a protective factor for aborting surgery due to hepatomegaly or abdominal wall thickness (OR 0.9; p < 0.0001). CONCLUSIONS: Aborted surgeries are uncommon and occur in approximately 1 in 200 primary bariatric operations with the lowest rate identified in sleeve gastrectomy. Nearly 20% of operations are aborted due to hepatomegaly or abdominal wall thickness and targeting patients with elevated BMIs and diabetes mellitus for preoperative weight loss might reduce the risk of these types of aborted procedures.
Asunto(s)
Cirugía Bariátrica , Humanos , Cirugía Bariátrica/métodos , Cirugía Bariátrica/estadística & datos numéricos , Femenino , Persona de Mediana Edad , Masculino , Adulto , Obesidad Mórbida/cirugía , Michigan/epidemiología , Estudios Retrospectivos , Sistema de Registros , Índice de Masa Corporal , AncianoRESUMEN
Fenofibrate, a peroxisome proliferator-activated receptor α (PPARα) agonist, is widely prescribed for hyperlipidemia management. Recent studies also showed that it has therapeutic potential in various liver diseases. However, its effects on hepatomegaly and liver regeneration and the involved mechanisms remain unclear. Here, the study showed that fenofibrate significantly promoted liver enlargement and regeneration post-partial hepatectomy in mice, which was dependent on hepatocyte-expressed PPARα. Yes-associated protein (YAP) is pivotal in manipulating liver growth and regeneration. We further identified that fenofibrate activated YAP signaling by suppressing its K48-linked ubiquitination, promoting its K63-linked ubiquitination, and enhancing the interaction and transcriptional activity of the YAP-TEAD complex. Pharmacological inhibition of YAP-TEAD interaction using verteporfin or suppression of YAP using AAV Yap shRNA in mice significantly attenuated fenofibrate-induced hepatomegaly. Other factors, such as MYC, KRT23, RAS, and RHOA, might also participate in fenofibrate-promoted hepatomegaly and liver regeneration. These studies demonstrate that fenofibrate-promoted liver enlargement and regeneration are PPARα-dependent and partially through activating the YAP signaling, with clinical implications of fenofibrate as a novel therapeutic agent for promoting liver regeneration.
RESUMEN
Human pregnane X receptor (PXR) is critical for regulating the expression of key drug-metabolizing enzymes such as CYP3A and CYP2C. Our recent study revealed that treatment with rodent-specific PXR agonist pregnenolone-16α-carbonitrile (PCN) significantly induced hepatomegaly and promoted liver regeneration after two-thirds partial hepatectomy (PHx) in mice. However, it remains unclear whether PXR activation induces hepatomegaly and liver regeneration and simultaneously promotes metabolic function of the liver. Here, we investigated the metabolism activity of CYP1A2, CYP3A1/2 and CYP2C6/11 during PXR activation-induced liver enlargement and regeneration in rats after cocktail dosing of CYP probe drugs. For PCN-induced hepatomegaly, a notable increase in the metabolic activity of CYP3A1/2 and CYP2C6/11, as evidenced by the plasma exposure of probe substrates and the AUC ratios of the characteristic metabolites to its corresponding probe substrates. The metabolic activity of CYP1A2, CYP3A1/2 and CYP2C6/11 decreased significantly after PHx. However, PCN treatment obviously enhanced the metabolic activity of CYP2C6/11 and CYP3A1/2 in PHx rats. Furthermore, the protein expression levels of CYP3A1/2 and CYP2C6/11 in liver were up-regulated. Taken together, this study demonstrates that PXR activation not only induces hepatomegaly and liver regeneration in rats, but also promotes the protein expression and metabolic activity of the PXR downstream metabolizing enzymes such as CYP3A1/2 and CYP2C6/11 in the body.
Asunto(s)
Citocromo P-450 CYP3A , Hepatomegalia , Regeneración Hepática , Hígado , Receptor X de Pregnano , Carbonitrilo de Pregnenolona , Animales , Receptor X de Pregnano/metabolismo , Receptor X de Pregnano/genética , Regeneración Hepática/efectos de los fármacos , Masculino , Citocromo P-450 CYP3A/metabolismo , Carbonitrilo de Pregnenolona/farmacología , Hígado/metabolismo , Hígado/enzimología , Hígado/efectos de los fármacos , Ratas , Hepatomegalia/metabolismo , Hepatomegalia/patología , Hidrocarburo de Aril Hidroxilasas/metabolismo , Hidrocarburo de Aril Hidroxilasas/genética , Familia 2 del Citocromo P450/metabolismo , Familia 2 del Citocromo P450/genética , Ratas Sprague-Dawley , Citocromo P-450 CYP1A2/metabolismo , Citocromo P-450 CYP1A2/genética , Esteroide 16-alfa-Hidroxilasa/metabolismo , Esteroide 16-alfa-Hidroxilasa/genética , Esteroide 12-alfa-Hidroxilasa/metabolismo , Esteroide 12-alfa-Hidroxilasa/genética , HepatectomíaRESUMEN
Pyogenic liver abscess (PLA) and hepatitis A are common in developing countries. As there is an overlap of clinical features, a diagnosis of dual infection can be missed. Here, we present the case of a five-year-old male who presented with abdominal pain, fever, and jaundice diagnosed as a complicated liver abscess with concurrent hepatitis A. To our knowledge, this is the first case where a PLA co-existed with hepatitis A. Simultaneous infection should be considered when a patient with liver abscess presents with jaundice, especially in areas where both diseases are endemic. Early diagnosis of both is crucial as PLA is a potentially fatal disease and co-infection with hepatitis A may worsen clinical outcomes.
RESUMEN
The liver, given its role as the central metabolic organ, is involved in many inherited metabolic disorders, including lysosomal storage diseases (LSDs). The aim of this manuscript was to provide a comprehensive overview on liver involvement in LSDs, focusing on clinical manifestation and its pathomechanisms. Gaucher disease, acid sphingomyelinase deficiency, and lysosomal acid lipase deficiency were thoroughly reviewed, with hepatic manifestation being a dominant clinical phenotype. The natural history of liver disease in the above-mentioned lysosomal disorders was delineated. The importance of Niemann-Pick type C disease as a cause of cholestatic jaundice, preceding neurological manifestation, was also highlighted. Diagnostic methods and current therapeutic management of LSDs were also discussed in the context of liver involvement.
RESUMEN
The activation of pregnane X receptor (PXR) or peroxisome proliferator-activated receptor α (PPARα) can induce liver enlargement. Recently, we reported that PXR or PPARα activation-induced hepatomegaly depends on yes-associated protein (YAP) signaling and is characterized by hepatocyte hypertrophy around the central vein area and hepatocyte proliferation around the portal vein area. However, it remains unclear whether PXR or PPARα activation-induced hepatomegaly can be reversed after the withdrawal of their agonists. In this study, we investigated the regression of enlarged liver to normal size following the withdrawal of PCN or WY-14643 (typical agonists of mouse PXR or PPARα) in C57BL/6 mice. The immunohistochemistry analysis of CTNNB1 and KI67 showed a reversal of hepatocyte size and a decrease in hepatocyte proliferation after the withdrawal of agonists. In details, the expression of PXR or PPARα downstream proteins (CYP3A11, CYP2B10, ACOX1, and CYP4A) and the expression of proliferation-related proteins (CCNA1, CCND1, and PCNA) returned to the normal levels. Furthermore, YAP and its downstream proteins (CTGF, CYR61, and ANKRD1) also restored to the normal states, which was consistent with the change in liver size. These findings demonstrate the reversibility of PXR or PPARα activation-induced hepatomegaly and provide new data for the safety of PXR and PPARα as drug targets.
Asunto(s)
Proliferación Celular , Hepatocitos , Hepatomegalia , Hígado , PPAR alfa , Receptor X de Pregnano , Pirimidinas , Proteínas Señalizadoras YAP , Animales , Masculino , Ratones , Proteínas Adaptadoras Transductoras de Señales/metabolismo , Hidrocarburo de Aril Hidroxilasas , beta Catenina/metabolismo , Proteínas de Ciclo Celular/metabolismo , Proteínas de Ciclo Celular/genética , Proliferación Celular/efectos de los fármacos , Citocromo P-450 CYP3A , Citocromo P-450 CYP4A/metabolismo , Citocromo P-450 CYP4A/genética , Familia 2 del Citocromo P450 , Familia 4 del Citocromo P450/genética , Familia 4 del Citocromo P450/metabolismo , Hepatocitos/efectos de los fármacos , Hepatocitos/metabolismo , Hepatocitos/patología , Hepatomegalia/inducido químicamente , Hepatomegalia/metabolismo , Hepatomegalia/patología , Antígeno Ki-67/metabolismo , Hígado/efectos de los fármacos , Hígado/metabolismo , Hígado/patología , Proteínas de la Membrana , Ratones Endogámicos C57BL , Fosfoproteínas/metabolismo , Fosfoproteínas/genética , PPAR alfa/agonistas , PPAR alfa/metabolismo , Receptor X de Pregnano/metabolismo , Receptor X de Pregnano/genética , Pirimidinas/farmacología , Transducción de Señal/efectos de los fármacos , Esteroide Hidroxilasas , Proteínas Señalizadoras YAP/metabolismoRESUMEN
Key Clinical Message: Timely recognition, accurate diagnosis, and proper management are vital for preventing complications and improving outcomes in polycystic liver disease. Abstract: Polycystic liver disease is an uncommon genetic condition characterized by the presence of over 20 liver cysts. It is symptomatic in only 5% of cases. Surgical intervention remains the primary treatment approach for managing symptoms in affected patients. Herein, we report a case of PLD revealed by severe abdominal pain.
RESUMEN
Background and purpose: Neuroblastoma 4S is a rare subtype of metastatic neuroblastoma found in children younger than 12 months, characterized by liver, skin, or bone marrow metastases. While the prognosis for patients is generally favorable, rapid progression of liver metastases can lead to life-threatening organ insufficiency. In such cases, immediate treatment with chemotherapy or radiotherapy is necessary. Given the recent decline in radiotherapy utilization, this study aims to reassess its role, evaluating its effectiveness and toxicity. Materials and methods: We conducted a systematic review and an institutional retrospective analysis to assess the use of radiotherapy for hepatomegaly in patients with neuroblastoma 4S. The study included data from 164 patients from the literature and 16 patients from our institutional cohort. We extracted and analyzed data on short- and long-term outcomes, as well as reports of radiotherapy-induced toxicity. Results: Our institutional data showed that 81 % of patients responded to low-dose radiotherapy administered at a median dose of 450 cGy in three fractions, resulting in liver shrinkage and symptom resolution. Based on the systematic review, 1-year survival rate was 80 %, while 5-year survival rate was 75 %. No serious toxicity was observed with the current low-dose radiotherapy; however, one case of induced secondary malignancy was reported. Conclusion: Radiation therapy is an effective treatment modality for hepatomegaly in patients with neuroblastoma 4S, with a success rate of about 80 %. Despite being administered to infants, a low dose of 450-600 cGy does not result in toxicity related to the kidneys, liver, or posture defects.
RESUMEN
Abdominal mass in a toddler is a common condition encountered in clinical practice. The nature of abdominal mass in toddlers can be a developmental cyst or benign and malignant tumours from various intraabdominal organs. Round blue cell tumours arising from the kidney, adrenals, pancreas, and liver in toddlers present as abdominal masses and are potentially fatal even with systematic treatment. Hepatoblastoma, a small round blue cell tumour of childhood, is a rare hepatic tumour. We report a case of hepatoblastoma in a toddler in view of its diagnostic challenge.
RESUMEN
Background: Secondary failure of platelet recovery (SFPR) is a common complication that influences survival and quality of life of patients with ß-thalassemia major (ß-TM) after hematopoietic stem cell transplantation (HSCT). Objectives: A model to predict the risk of SFPR in ß-TM patients after HSCT was developed. Design: A retrospective study was used to develop the prediction model. Methods: The clinical data for 218 ß-TM patients who received HSCT comprised the training set, and those for another 89 patients represented the validation set. The least absolute shrinkage and selection operator regression algorithm was used to identify the critical clinical factors with nonzero coefficients for constructing the nomogram. Calibration curve, C-index, and receiver operating characteristic curve assessments and decision curve analysis (DCA) were used to evaluate the calibration, discrimination, accuracy, and clinical usefulness of the nomogram. Internal and external validation were used to test and verify the predictive model. Results: The nomogram based on pretransplant serum ferritin, hepatomegaly, mycophenolate mofetil use, and posttransplant serum albumin could be conveniently used to predict the SFPR risk of thalassemia patients after HSCT. The calibration curve of the nomogram revealed good concordance between the training and validation sets. The nomogram showed good discrimination with a C-index of 0.780 (95% CI: 70.3-85.7) and 0.868 (95% CI: 78.5-95.1) and AUCs of 0.780 and 0.868 in the training and validation sets, respectively. A high C-index value of 0.766 was reached in the interval validation assessment. DCA confirmed that the nomogram was clinically useful when intervention was decided at the possibility threshold ranging from 3% to 83%. Conclusion: We constructed a nomogram model to predict the risk of SFPR in patients with ß-TM after HSCT. The nomogram has a good predictive ability and may be used by clinicians to identify SFPR patients early and recommend effective preventive measures.
RESUMEN
Clinical findings of hepatomegaly and splenomegaly, the abnormal enlargement of the liver and spleen, respectively, should prompt a broad differential diagnosis that includes metabolic, congestive, neoplastic, infectious, toxic, and inflammatory conditions. Among the metabolic diseases, lysosomal storage diseases (LSDs) are a group of rare and ultrarare conditions with a collective incidence of 1 in 5000 live births. LSDs are caused by genetic variants affecting the lysosomal enzymes, transporters, or integral membrane proteins. As a result, abnormal metabolites accumulate in the organelle, leading to dysfunction. Therapeutic advances, including early diagnosis and disease-targeted management, have improved the life expectancy and quality of life of people affected by certain LSDs. To access these new interventions, LSDs must be considered in patients presenting with hepatomegaly and splenomegaly throughout the lifespan. This review article navigates the diagnostic approach for individuals with hepatosplenomegaly particularly focusing on LSDs. We provide hints in the history, physical exam, laboratories, and imaging that may identify LSDs. Additionally, we discuss molecular testing, arguably the preferred confirmatory test (over biopsy), accompanied by enzymatic testing when feasible.
RESUMEN
PURPOSE: To assess liver and spleen characteristics of a population with Gaucher disease (GD) using multiparametric MRI and MR elastography (MRE) for evaluation of diffuse liver and spleen disease, which includes liver fat fraction, liver and spleen volume and iron deposition, and liver and spleen stiffness correlated with DS3 Severity Scoring System for Gaucher disease (GD-DS3). METHODS: We prospectively evaluated 41 patients with type 1 Gaucher disease using a 3.0 T MRI and MRE between January 2019 and February 2020. Clinical, laboratory, and imaging data was collected. Mann-Whitney, Kruskal-Wallis, and Spearman's correlation were applied to evaluate liver and spleen MRI and MRE, clinical and laboratory variables, and GD-DS3. ERT and SRT treatment groups were compared. RESULTS: Hepatomegaly was seen in 15% and splenomegaly in 42% of the population. Moderate and strong and correlations were found between liver and spleen iron overload (rho = 0.537; p = 0.002); between liver and spleen volume (rho = 0.692, p < 0.001) and between liver and spleen stiffness (rho = 0.453, p = 0.006). Moderate correlations were found between liver stiffness and GD-DS3 (rho = 0.559; p < 0.001) and between splenic volume and GD-DS3 (rho = 0.524; p = 0.001). CONCLUSION: The prevalence of hepatosplenomegaly, liver fibrosis, and liver iron overload in treated patients with GD is low, which may be related to the beneficial effect of treatment. Liver MRE and splenic volume correlate with severity score and may be biomarkers of disease severity.