Diagnosis Of Splenomegaly Research Articles

MPN-386 Real-World Ruxolitinib Treatment Pattern in Myelofibrosis Patients With Thrombocytopenia.

Ruxolitinib, the standard treatment for patients with myelofibrosis to reduce splenomegaly and improve myelofibrosis-associated symptoms, is associated with high rates of cytopenia effect. Thrombocytopenia, common in myelofibrosis patients, is associated with poor clinical outcomes, and its treatment confers a unique challenge. This real-world study characterized the disease and ruxolitinib treatment pattern in myelofibrosis patients with thrombocytopenia using US insurance claims data. Data from the IBM MarketScan® Medicare Supplemental Database were retrospectively analyzed to identify patients aged ≥18 years with ≥1 claim for ruxolitinib and ≥2 non-diagnostic medical claims for myelofibrosis from 2017 to 2019. The first ruxolitinib claim on or after the first myelofibrosis claim defined the index date. Patients who continuously enrolled in a health plan for 3 months before and 6 months after the index date were included. Clinical characteristics and ruxolitinib treatments were compared in myelofibrosis patients with or without a history of thrombocytopenia prior to ruxolitinib initiation. Overall, 136 myelofibrosis patients who received ruxolitinib treatment were included in the analysis. The median age was 61 years, 61% were male, 62% had primary myelofibrosis, and 38% had post-polycythemia vera or essential thrombocythemia myelofibrosis. Prior to ruxolitinib treatment, 57% of patients had a diagnosis of splenomegaly, 56% had anemia, 25% had thrombocytopenia, 19% had received RBC transfusion, and 7% had neutropenia. During ruxolitinib treatment, 25% of patients had a new diagnosis of thrombocytopenia, 22% had neutropenia, and 19% had anemia. Patients with versus without history of thrombocytopenia had more anemia (79% vs. 48%, P=0.001), more red blood cell transfusions (44% vs. 11%, P<0.001), and a lower mean starting dose of ruxolitinib (20 mg vs. 27 mg, P=0.005). History of anemia, leukocytosis, neutropenia, myelofibrosis type, and splenomegaly had no effect on the ruxolitinib starting dose. Myelofibrosis patients with versus without history of thrombocytopenia continued ruxolitinib treatment at lower doses. During ruxolitinib treatment, 57% of patients with versus 42% without history of thrombocytopenia experienced anemia (OR=1.88, P=0.43). History of thrombocytopenia was a major factor influencing ruxolitinib dose and was associated with history of anemia and neutropenia. Our findings underscore the need for more treatment options to manage myelofibrosis patients with thrombocytopenia.

Measurement of normal spleen volume and dimensions in all child age groups by abdominal computed tomography.

This study aimed to calculate the spleen size and volume, portal vein diameter, splenic vein diameter, and accessory spleen presence in children aged 0-18 years in the Turkish population by computed tomography, according to age and gender. Abdominal computed tomography images of 406 children without systemic or organospecific disease were retrospectively analyzed in the study. Maximum interpolar length in axial and coronal sections in addition to maximum width at hilus level in axial sections of the spleen were measured in abdominal computed tomography. Luminal diameter measurements were obtained from axial sections at the level of the liver hilum of the portal vein and the hilus of the spleen of the splenic vein. As age increases, the axial longest dimension (ALD), axial longest thickness (ALT) and coronal longest dimension (CLD) dimensions also increase, and this increase is statistically significant (p<0.001). The lowest splenic volume was measured in the 0-2 age group as 25.3 cm3, and the highest splenic volume was 506.2 cm3 in the 17-18 age group. Splenic vein diameter is between 1.9 mm and 11.0 mm, and the mean splenic vein diameter increases with increasing age. Portal vein diameter is between 4.1 mm and 14.9 mm, and the average portal vein diameter increases with age. The accessory spleen was seen in 22 (5.4%) children. Accessory spleen size ranged from 5 mm to 17 mm. There was a strong positive correlation between spleen volume and splenic vein diameter (r=0.696 p<0.001). Similarly, there was a strong positive correlation between spleen volume and portal vein diameter (r=0.704 p<0.001). It may be helpful to know the normal spleen volume in healthy children according to age groups in making the correct diagnosis of splenomegaly. We assume that it will play an important role in the accurate diagnosis of portal hypertension to know the upper and lower limits of the portal vein and splenic vein diameters.

P1044: REAL-WORLD RUXOLITINIB TREATMENT PATTERN IN MYELOFIBROSIS PATIENTS WITH THROMBOCYTOPENIA

Background: Ruxolitinib (RUX) is the standard treatment for patients (pts) with myelofibrosis (MF) to reduce splenomegaly and improve MF-associated symptoms. RUX treatment is titrated based on platelet counts and is associated with high rates of cytopenia effect. The incidence of moderate thrombocytopenia (platelet count <100 x 109/L) is about 25% in newly diagnosed MF pts; however, the prevalence is about 67% in all MF pts. Low platelet count has been identified as an important surrogate marker of survival in MF pts with associated poor clinical features. Thrombocytopenia is also an independent predictor in the Dynamic International Prognostic Scoring System plus (DIPPS plus), with an actual 1.4-fold increased risk of death. Thus, treatment of MF pts with thrombocytopenia confers a unique challenge and unmet medical need. Real world studies will provide a perspective on the current management of MF pts with thrombocytopenia. Aims: To characterize the disease and RUX treatment pattern in MF pts with thrombocytopenia using de-identified insurance claims data in the US. Methods: The IBM MarketScan® Medicare Supplemental Database data was retrospectively analyzed to identify pts aged ≥18 years with ≥1 claim for RUX and ≥2 non-diagnostic medical claims for MF (ICD-10 D47.4, D7581) from 2017–2019. The first RUX claim on or after the first MF claim defined the index date. Pts who continuously enrolled in a health plan for 3 months before the index date and 6 months after the index date were included. Clinical characteristics and RUX treatments were compared in MF pts with or without a history of thrombocytopenia prior to RUX initiation. Results: The database contained 136 MF pts who had received treatment with RUX. Median age was 61 years, 61% were male, 62% of pts had primary MF, and 38% had post-polycythemia vera or essential thrombocythemia MF. Prior to initial RUX treatment, 57% of pts had a diagnosis of splenomegaly, 56% had anemia, 25% had thrombocytopenia, 19% had received RBC transfusion, and 7% had neutropenia. During RUX treatment, 25% of pts had a new diagnosis of thrombocytopenia, 22% had neutropenia, and 19% had anemia. Pts with a history of thrombocytopenia also had more anemia (79% vs 48%, p=0.001) and more RBC transfusions (44% vs 11%, p<0.001) than those without a history of thrombocytopenia. History of thrombocytopenia was associated with a lower starting dose of RUX (average starting daily dose 20 mg vs 27 mg, p=0.005), whereas history of anemia, leukocytosis, neutropenia, MF type, and splenomegaly were found to have no difference in the RUX starting dose. In addition, MF pts with history of thrombocytopenia continued RUX treatment at lower doses compared with those without a history of thrombocytopenia. During RUX treatment, 57% of pts with history of thrombocytopenia experienced anemia compared with 42% in pts without history of thrombocytopenia (OR 1.88, p=0.43). Summary/Conclusion: In this real-world data analysis, history of thrombocytopenia was a major factor influencing the RUX dose for treatment of MF pts, consistent with prescribing data that RUX dose is adjusted based on platelet counts. These data show that pts with thrombocytopenia were treated with lower doses of RUX in clinical practice. Additionally, history of thrombocytopenia was associated with history of anemia; thus, these MF pts may be more prone to develop anemia during RUX treatment compared with pts without a history of thrombocytopenia. Our findings underscore the need for more treatment options to manage MF pts with thrombocytopenia. *Equal contribution.

Lymphomes spléniques : diagnostic et prise en charge

Some common clinical situations, such as splenomegaly or lymphocytosis, or less common, such as autoimmune hemolytic anemia, cold agglutinin disease, or cryoglobulinemia can lead to the diagnosis of splenic lymphoma. Splenic lymphoma is rare, mainly of non-hodgkinian origin, encompassing very different hematological entities in their clinical and biological presentation from an aggressive form such as hepato-splenic lymphoma to indolent B-cell lymphoma not requiring treatment such as marginal zone lymphoma, the most frequent form of splenic lymphoma. These entities can be challenging to diagnose and differentiate. This review presents different clinical and biological manifestations suspicious of splenic lymphoma and proposes a diagnosis work-up. We extended the strict definition of splenic lymphoma (lymphoma exclusively involving the spleen) to lymphoma thant can be revealed by a splenomegaly and we discuss the differential diagnosis of splenomegaly.

Пренатальная ультразвуковая оценка размеров селезенки

Objective. To examine the ultrasonic morphometric parameters of fetal spleen at 23–40 weeks’ gestation. Patients and methods. This study included 75 patients with complicated pregnancy. Morphometric measurements of spleen dimensions (length, width, and thickness) were additionally performed during a standard fetal ultrasound. The data obtained were used to calculate spleen weight and spleen mass coefficient (SMC). Results. SMC ranging from 1.5 to 4 indicates the absence of spleen enlargement, SMC greater than 4 indicates splenomegaly and less than 1.5 – microsplenia. Splenomegaly was detected in 48% of the fetuses. Conclusion. The aim of prenatal ultrasound is the earliest possible diagnosis of splenomegaly as a marker of fetal immune response to a probable inflammatory or infectious process. Key words: spleen mass coefficient, newborns, spleen, splenomegaly, ultrasound

Splenomegaly in Children and Adolescents.

In contrast to other lymphoid tissues making up the immune system, the spleen as its biggest organ is directly linked into the blood circulation. Beside its main task to filter out microorganism, proteins, and overaged or pathologically altered blood cells, also humoral and cellular immune responses are initiated in this organ. The spleen is not palpable during a physical examination in most but not all healthy patients. A correct diagnosis of splenomegaly in children and adolescents must take into account age-dependent size reference values. Ultrasound examination is nowadays used to measure the spleen size and to judge on reasons for morphological alterations in associated with an increase in organ size. An enormous amount of possible causes has to be put in consideration if splenomegaly is diagnosed. Among these are infectious agents, hematologic disorders, infiltrative diseases, hyperplasia of the white pulp, congestion, and changes in the composition and structure of the white pulp by immunologically mediated diseases. This review attempts to discuss a comprehensive list of differential diagnoses to be considered clinically in children and young adolescents.

Utility of Bone Marrow Examination in the Diagnosis of Splenomegaly: Experience from a Tertiary Care Center

Introduction: Establishing the diagnosis of splenomegaly is a clinical and pathological conundrum. The present study aimed to evaluate the clinicohematological findings and the significance of bone marrow examination in establishing the etiology of splenomegaly. Materials and Methods: This study was a retrospective analysis of patients with splenomegaly who had indications for bone marrow examination. The study was conducted over a period of 2 years. Detailed hematological and serological investigations were analyzed in those patients. Results: There were 96 males and 60 females. Most of the patients presented with fever. A mild degree of splenomegaly was found in 56.4% of the patients, followed by moderate (39.7%), and massive (3.9%) degree of splenomegaly. Pancytopenia was noted in 15.4% of the patients. Anemia was observed in 96.2% of the cases. Erythroid hyperplasia was the most common bone marrow finding (37.2%). Etiologies of splenomegaly were documented by the clinico-laboratory evaluation in 45.5% of the patients. Bone marrow examination along with peripheral blood examination alone established etiologies in 15.4% of the patients. Conclusion: Anemia and hematological malignancies formed a major part of the etiologies of splenomegaly. Bone marrow examination was an inevitable investigation in these situations. Serological investigations were useful in the diagnosis of nutrition deficiency anemia and infectious etiology. The grade of splenomegaly assessed clinically at the time of presentation provided an important clue for the etiology. Bone marrow examination proved to be an important diagnostic tool in the workup of patients with splenomegaly.

Massive splenomegaly due to splenic marginal zone B‐cell lymphoma

A 73-year-old man presented with an abdominal mass that gradually swells over 3months. He denied any subjective symptoms. Physical examination revealed massive enlargement of the spleen-the spleen had crossed the midline and its lower margin extended into the lower abdomen.

Littoral cell angioma of the spleen in a patient with cerebral palsy and sigmoid volvulus: a rare case report

Background: Littoral cell angioma (LCA) is a rare vascular tumour of the spleen with unique histologic and immunophenotypic features. LCA is generally diagnosed incidentally and has a benign clinical course. However, it has rarely been reported to behave as a malign entity. Case presentation: A 49-year-old woman with cerebral palsy admitted to the hospital suffering from abdominal pain and weight loss. Laboratory results revealed iron deficiency anaemia and mild thrombocytopenia. Computed tomography scan revealed splenomegaly with multiple hypoattenuating lesions. A diagnostic and therapeutic open splenectomy and sigmoid colectomy were performed to exclude possible lymphoproliferative disorders or malignant lesions. The histologic and immunohistochemical studies confirmed the diagnosis of LCA and sigmoid volvulus. The post-operative period was uneventful with a significant increase in haemoglobin and platelet levels. Unfortunately, the patient died due to sepsis 36 days after surgery. Conclusion: This is the first case of LCA and sigmoid volvulus. Although this association is likely to be entirely coincidental, clinicians should be aware of this rare clinicopathologic entity whilst evaluating the differential diagnosis of splenomegaly with solitary or multiple nodules.

Early Ultrasound Signs of Splenomegaly in Neonates

The purpose of the study is to determine early non-invasive (ultrasound) diagnostic criteria of splenomegaly in neonates with a high risk of congenital or postnatal infection.Materials and methods. In the prospective study, 163 newborn infants of the first week of live were included. All neonates included in the study were classified as possessing a high risk of an intra-uterine infection (IUI). Depending on the birth weight, the infants were split into two groups: group «А» — 80 full-term newborns with normal birth weight, and group «В» — 83 full-term newborns with fetal growth restriction (FGR). A comprehensive examination of newborns including spleen ultrasound was carried out.Results. An increased spleen weight coefficient (Km) was found in newborns with high risk of infection development that included congenital oromaxillofacial and gastrointestinal defects, perinatal contacts with various microorganism. The increased spleen weight and Km reflected conditions of the immune system organ of the newborn in response to an adverse exposure including infection.Conclusion. Ultrasound examination of morphometrical characteristics of the spleen in newborns with various medical conditions represents a convenient and simple method of early diagnosis of splenomegaly. The most sensitive index is the spleen weight coefficient (Km), which reflects the immune system organ response to an adverse perinatal exposure including contact with an infectious agent. The mean spleen weight coefficient is within the range of 1.1 to 3.0. When the index exceeds 4, the risk of development of an infectious disease increases. This method can be used as a screening approach for newborns of different gestation age who have been included in the high-risk group based on a congenital or early postnatal infection.

Splenic lymphangioma: a rare benign tumor in adults

Primary benign tumors of the spleen are extremely rare and account for less than 0.007% of all tumors identified upon surgery and autopsy. Splenic lymphangioma is a rare malformation of the splenic lymphatic channels, mostly seen in children. It is characterized by the presence of cysts, resulting from increases in the size and number of thin-walled lymphatic vessels that are abnormally interconnected and dilated. We report the case of 45-year-old female, came with chief complaint of pain abdomen for 1 month. Radiological imaging showed multiple echogenic non-enhancing lesions with septate cystic changes. Splenectomy was done. HPE was reported as Splenic Lymphangioma. The clinical picture is variable; small lesions are often incidentally detected through imaging studies, while larger lesions can result in compression of organs, causing pain or rupture even after minor trauma. Therefore, splenic lymphangiomas should be considered in the differential diagnosis of splenomegaly or left upper quadrant pain even among adults and should be immediately treated with splenectomy; delay in the therapeutic intervention can lead to life-threatening complications.

T-Cell/Histiocyte-Rich B-Cell Lymphoma of Spleen: A Case Report

Splenomegaly is a frequent yet challenging condition that clinicians have to deal within their daily clinical practice. Although the spleen is commonly involved in disseminated lymphoma, primary lymphoma of the spleen is rare. A great majority of the reported cases are of B-cell lineage, with diffuse large B-cell lymphoma being the most common. A new variant of T-cell/histiocyte-rich B-cell was first described by Dogan et al. in 2003.1 The combined morphologic, immunohistochemical, and molecular genetic data are essential for a correct diagnosis of splenic T-cell-rich B-cell lymphoma. We report a classical case of T-cell-rich B-cell lymphoma of the spleen in a 45-year-old male patient with clinical diagnosis of splenomegaly.

The Data Quality of Splenomegaly ICD-10 Diagnoses in a Population-Based Hospital Discharge Registry: A Preliminary Analysis

BackgroundSplenomegaly is a common finding in general medical patients. The cause of splenomegaly is often found outside the spleen and therefore an extensive diagnostic medical work-up is frequently required. There is very little data on the distribution of causal diagnoses and, to the best of our knowledge, accurate data on the risk of hematological malignancies, hepatic diseases and storage diseases among patients with splenomegaly have never been reported. The aim of this pilot study is to investigate the validity of the splenomegaly ICD-10 diagnoses, in order to ascertain if a nationwide registry study of the above stated risks can be undertaken, and to investigate which causal diagnoses are most common.MethodThe study was conducted as a cohort with data from the Danish health care system. Patients with an ICD-10 diagnosis of splenomegaly at Odense University Hospital (OUH) from January 1st 1994 to December 31st 2013 were identified through the Danish National Registry of Patients (DNRP). Patients with a known diagnosis of a malignant hematological disease, liver cirrhosis, or splenomegaly before January 1st 1994 were excluded. The clinical records from OUH provided data, and splenomegaly was, in accordance with current literature, defined as; 1. clinically palpable spleen by abdominal examination on two occasions or by two physicians on the same occasion, 2. the longest diameter being ≥13 cm by ultrasonography or >10 cm by computed tomography or 3. wet weight >291g at excision or autopsy. The analyses presented in this abstract are interim analyses.ResultsAt the time of analysis 65 out of 132 (49.2%) medical records had been reviewed. Two patients with diagnoses of chronic myeloproliferative neoplasms prior to 1994 were excluded. The mean age of the population at the time of splenomegaly diagnosis was 55 years. 63% of the patients were males and 37% were females. In 56 of the 63 patients the splenomegaly diagnosis was considered valid, the positive predictive value (PPV) was 88.9% (95% CI: 78.4, 95.4). The mean time from confirmation of splenomegaly until it was coded was 10 months; distribution can be seen in figure 1. The most common method for determining enlarged spleen, as seen in table 1, was ultrasonic imaging. Table 2 shows that hematological diseases was the most common underlying causal disease group (50%), followed by hepatic diseases (25%), other diseases (12.5%) and idiopathic causes (12.5%). Lymphomas was the single most common causal diagnosis (n=12) and liver cirrhosis the second most common (n=9).ConclusionThe high PPV indicates that the ICD-10 splenomegaly diagnosis is valid and together with the relatively short delay of coding it indicates that registry information could be used in future studies to estimate risks of hematological malignancies, liver cirrhosis and storage diseases among patients with an enlarged spleen.Table 1Methods of Determining Splenomegaly(n = 56)(%)MethodPalpable47.1≥13 cm by US3358.9>10 cm by CT1628.6≥13 cm by other method of scanning23.6>291 g by excision or autopsy11.8Total56100Table 2Underlying Causes of SplenomegalyDiagnostic groupHepaticHematologicOtherUnknownTotalDiseaseLymphoma-12--12MPN-7--7CLL/HCL-4--4Hemolytic disease-1--1Other hematological disease-4--4Other cancer1---1Liver cirrhosis9---9Portal hypertension3---3Other liver disease1---1Infection--3-3Inflammatory disease--1-1Primary splenic--1-1Other disease--2-2Unknown/idiopathic---77Total, n14287756Total, %25.050.012.512.5100.0 [Display omitted] DisclosuresCurovic Rotbain:Genzyme: Research Funding. Lund Hansen:Genzyme: Research Funding. Frederiksen:Genzyme: Research Funding.

Point-of-care ultrasonography improves the diagnosis of splenomegaly in hospitalized patients.

BackgroundIt is important to detect splenomegaly as it can have important diagnostic implications. Previous studies, however, have shown that the traditional physical examination is limited in its ability to rule in or rule out splenomegaly.ObjectiveTo determine if performing point-of-care ultrasonography (POCUS) in addition to the traditional physical examination improves the sensitivity and specificity for diagnosing splenomegaly.MethodsThis was a prospective trial of diagnostic accuracy. Physical and sonographic examinations for splenomegaly were performed by students, residents and attending physicians enrolled in an ultrasound training course. Participants received less than 1 h training for ultrasound diagnosis of splenomegaly. The findings were compared to radiographic interpretation of gold standard studies.Setting/patientsHospitalized adult patients at an academic medical center without severe abdominal pain or recent surgery who had abdominal CT, MRI or ultrasound performed within previous 48 h.ResultsThirty-nine subjects were enrolled. Five patients had splenomegaly (12.5 %). The physical examination for splenomegaly had a sensitivity of 40 % (95 % CI 12–77 %) and specificity of 88 % (95 % CI 74–95 %) while physical examination plus POCUS had a sensitivity of 100 % (95 % CI 57–100 %) and specificity of 74 % (95 % CI 57–85 %). Physical examination alone for splenomegaly had an LR+ of 3.4 (95 % CI 0.83–14) and LR− of 0.68 (95 % CI 0.33–1.41); for physical exam plus POCUS the LR+ was 3.8 (2.16–6.62) and LR− was 0.ConclusionsPoint-of-care ultrasonography significantly improves examiners’ sensitivity in diagnosing splenomegaly.

Splenic lymphangioma.

Splenic lymphangioma is a rare malformation of the splenic lymphatic channels, mostly seen in children. It is characterized by the presence of cysts, resulting from increases in the size and number of thin-walled lymphatic vessels that are abnormally interconnected and dilated. The condition may be restricted to the spleen, but in most cases it involves multiple organs (systemic lymphangiomatosis). The clinical picture is variable; small lesions are often incidentally detected through imaging studies, while larger lesions can result in compression of organs, causing pain or rupture even after minor trauma. Therefore, splenic lymphangiomas should be considered in the differential diagnosis of splenomegaly or left upper quadrant pain even among adults and should be immediately treated with splenectomy; delay in the therapeutic intervention can lead to life-threatening complications.

Esplenomegalia induzida por drogas.

The diagnosis of splenomegaly due to drugs is based on a recent history of exposure to a drug before the spleen enlargement. The purpose of this paper is to review studies of the literature on drugs that may induce to splenomegaly. Drugs may provoke the enlargement of spleen by direct effect in splenic cells or as a side effect of disturbances in other organs, mainly liver and haematoimmunologic system. Some drugs provoke severe haemolysis associated with splenomegaly. Another cause of spleen increasing in size is the venous congestion due to liver disturbance with portal vein occlusion. All these drug side effects are usually transitory and splenomegaly disappears when the medication is discontinued. This is a complex problem that must be better studied to be understood in order to prevent its occurrence and to find the best treatment.

Detection of Splenomegaly on Meckel’s Diverticulum Scan

A 16-year-old boy was seen with the complaint of intermittent lower gastrointestinal bleeding and was referred for a radionuclide Meckelogram. Although Tc-99m pertechnetate scintigraphy failed to reveal heterotopic gastric mucosa, focal accumulation of radiotracer in a large area involving the left side of the abdomen and liver were seen. Both areas of activity cleared gradually, but the first one remained longer and based on its configuration, raised the possibility of splenomegaly. Further ultrasonographic evaluation confirmed the diagnosis of splenomegaly, which was subsequently determined to be secondary to noncirrhotic portal fibrosis. The findings of radionuclide Meckelograms can be more than detecting heterotopic gastric mucosa.

Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists

In Gaucher disease (GD), inherited deficiency in lysosomal acid beta-glucocerebrosidase leads to the widespread accumulation of glycolipid-laden macrophages in tissues and consequent multisystemic disease. The presenting symptoms of type 1 (non neuronopathic) Gaucher disease commonly reflect the haematologic components of the disease, i.e., splenomegaly, thrombocytopenia, anaemia, and bleeding tendency. Consequently the majority of patients are referred to haematologists for diagnosis and management. However, the remarkable heterogeneity of the disease compounded by its rarity presents a diagnostic challenge. Only around 20% of haematologists consider GD in differential diagnosis even though all classic manifestations of the disease may be present. Haematologic malignancy is the most often considered diagnosis in such patients. Lack of awareness of GD and its protean manifestations renders individuals with Gaucher disease vulnerable to misdiagnosis, diagnostic delays and risk of irreversible complications that are otherwise preventable by timely therapy. Missed diagnosis may place individuals at risk of bleeding even in the presence of mild thrombocytopenia, irreversible skeletal complications leading to disability and impaired growth, and an increased risk of malignancy, especially multiple myeloma. Imiglucerase (Cerezyme) enzyme replacement therapy is effective in reversing haematological, visceral and some skeletal manifestations of the disease. In a minority of patients in whom imiglucerase is not suitable, Miglustat substrate reduction therapy (Zavesca) is an alternative. An international group of physicians met to harness their respective experience of managing the diverse phenotypes of Gaucher disease in order to raise awareness of GD and to determine under which circumstances GD should be given greater priority in differential diagnosis. As a result of their discussions, simple diagnostic algorithms have been devised, which focus on splenomegaly as the most prevalent presenting manifestation of GD in individuals of both Ashkenazi Jewish and non Ashkenazi Jewish background. Given the prevalence of GD in Ashkenazim, a possible diagnosis of GD is prioritised in the presence of splenomegaly in this population. When challenged by differential diagnosis of splenomegaly, GD can be confirmed or eliminated by a straightforward assay for beta glucocerebrosidase activity. Diagnostic algorithms are accompanied by disease management algorithms, which reflect published therapeutic goals and monitoring guidelines, to simplify decision making in the evaluation, treatment and ongoing monitoring of GD in response to therapy.

Outcomes of splenectomy in T-cell large granular lymphocyte leukemia with splenomegaly and cytopenia

T-cell large granular lymphocyte leukemia (T-LGL) is a chronic clonal lymphoproliferation of cytotoxic T cells often complicated by cytopenia. Because the outcomes of splenectomy in patients with T-LGL have been only reported sporadically, we objectively assessed the outcomes of splenectomy. When a cohort of 56 T-LGL patients was analyzed, patients with splenomegaly (n = 34) and had higher frequency of bi- and pancytopenia than patients with no splenomegaly (70% vs 27%; p = 0.001). We identified 15 patients who, in their clinical course, underwent splenectomy and studied their hematological and clinical outcomes. Indications for splenectomy included symptomatic splenomegaly and/or severe refractory cytopenia. Median spleen weight was 1300 g, consistent with diagnosis of splenomegaly; T-cell receptor (TCR)-gamma rearrangement and typical T-LGL were detected by immunophenotype in all specimens. There was no surgery-related mortality, with the median follow-up and survival of 719 and 498 days, respectively. Two patients died due to causes possibly related to the splenectomized state and/or primary disease. All patients showed lineage-specific hematologic response and achieved transfusion independence; however, precise molecular analysis of TCR and variable chain Vbeta flow cytometry showed persistence of the LGL clones. We conclude that splenectomy constitutes a viable and safe therapeutic option for patients with T-LGL, splenomegaly, and refractory cytopenia.

Splenic lesions: FNA findings in 48 cases

To study fine needle aspiration (FNA) cytological findings of splenic lesions and assess the role of FNA in the diagnosis of splenomegaly or splenic tumours. This study consisted of 48 cases, 25 males and 23 females. The ages ranged between 3 and 71 years. Most of these cases were aspirated under ultrasonographic guidance and a small number were also aspirated directly by using a 22- to 23-gauge needles. The smears were stained with Wright-Giemsa and Papanicolaou methods. Special stains were used whenever necessary. In this study 14 cases were diagnosed as lymphoma-leukaemia, 7 cases as tuberculosis, 12 cases as kala-azar, 2 cases as hydatid cyst, 3 cases as storage diseases, 3 cases as simple cyst, 2 cases as myeloproliferative disorders, 2 cases as malignant tumours and 3 cases as hamartomas (these were wrongly diagnosed as malignant tumours). Splenic aspiration is a safe procedure and is very useful in the diagnosis of parasitic and infectious diseases, especially in endemic countries like Iran.