scholarly journals Idiopathic Erythrocytosis: Vascular Complications

Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 4146-4146
Author(s):  
Abdullah Malas ◽  
Shams Bufalino ◽  
Christie Hancock ◽  
Jacob D. Bitran

Abstract Idiopathic Erythrocytosis (IE) is a diagnosis of exclusion once primary and secondary causes have been eliminated; yet IE remains an enigmatic disorder. Published series from decades ago (Modan & Modan J. Hematol [1968] 14:375; Pearson & Wetherly-Mein, Clin.Lab Hematol. [1974] 1:189) have reported high rates of vascular complications (46%) and advise phlebotomy to keep the hematocrit to less than 45%. A More recent series (McMullin B.J. Hematol. [2005] 130:174) advise no need for phlebotomy in patients with no co-morbidities such as vascular disease, diabetes, or hypertension. In an attempt to determine some practice guidelines, we undertook a retrospective analysis of patients identified with IE within our practice and to quantify the rates of vascular complications, if any. From January 1, 2016 to December 31. 2020 99 patients were referred because of erythrocytosis. Twenty of these 99 patients had polycythemia rubra vera and 77 had secondary erythrocytosis ( 64 males, 13 females, median age 61 years). Of these 77 patients with secondary erythrocytosis, 40 had obstructive sleep apnea, 10 men abused testosterone, and 1 patient each was either post splenectomy or post kidney transplant, 1 patient had a renal cell carcinoma, and 1 patient had familial erythrocytosis. Twenty patients were identified as having IE and all 20 did not have a JAK2 mutation. There 13 males and 7 females with a median age of 63 years (range 31-76). The median hemoglobin was 17.2 gm/dl and the median hematocrit was 51.2 (range 15.0 to 18.4 and 49% to 55% respectively). The median erythropoietin level was 9.9 mu/ml (range 5-38.5). Two of the 20 patients underwent therapeutic phlebotomy and developed no vascular complications. Eighteen patients were simply followed with phlebotomy despite having comorbidities of hypertension, increased BMI, type II diabetes, and none developed vascular complications. IE remain an enigmatic disorder that requires uniform diagnostic criteria as well as uniform practice guidelines; however, given our retrospective review, we do not believe that therapeutic phlebotomy is justified. Disclosures No relevant conflicts of interest to declare.

2021 ◽  
pp. 24-26
Author(s):  
Anitha .B ◽  
Veena Juliette .A ◽  
Murali. T

Type II Diabetes mellitus (TII DM) is a major global health problem. TII DM is characterized by the prothrombotic state of platelets which owes to the persistent hyperglycemia and insulin resistance, causing injury to pericytes and endothelium. Increased platelet activity is believed to be associated with the development of vascular complications in TII DM. Mean Platelet Volume (MPV), a marker of platelet function which can be used to assess the vascular complications. This is an observational study including 150 TII DM patients attending Diabetology OPD in Coimbatore Medical College& Hospital. MPV, FBS, PPBS, HBA1c were signicantly elevated in TII DM patients. Mean FBS, PPBS, HBA1c, MPV were 188.84±91.50mg/dL, 281.10±104.51mg/dL,8.56±2.25 %,9.66 ± 2.02fL, respectively. MPV showed a signicant positive correlation with FBS, PPBS, HBA1c. MPV showed more strong correlation in patients with HBA1c >7% than in patients with HBA1c ≤7%. Our study showed that in Type II Diabetes Mellitus patients, Mean Platelet Volume (MPV) is increased. MPV is signicantly increased in patients with high HBA1c level. Thus, MPV can be taken as a simple and a cost-effective parameter in assessing the Glycemic control in TII DM patients.


2017 ◽  
Vol 3 (1) ◽  
pp. 6-10
Author(s):  
N Bhavya ◽  
V Ajith Kumar

ABSTRACT Introduction India is claimed to be the diabetes capital of the world. Many studies had proven that persistent hyperglycemia and associated metabolic syndrome features like hypertension, dyslipidemia, and obesity contribute to the development of vascular complications. The risk of chronic complications increases as a function of the duration of hyperglycemia; they usually become apparent in the second decade of hyperglycemia. Since type II diabetes mellitus (DM) often has a long asymptomatic period of hyperglycemia, many individuals with type II DM have complications at the time of diagnosis. The vascular complications of DM are subdivided into microvascular (retinopathy, neuropathy, nephropathy) and macrovascular (coronary artery disease, peripheral arterial disease, cerebro-vascular disease) complications. The present study aims to study the occurrence of microalbuminuria in patients with type II DM and note its association with the duration of diabetes since diagnosis and microvascular complications of DM. Study design Prospective observational study. Materials and methods The study is a clinical, prospective, and observational study of 100 type II diabetics attending the medicine department outpatient/inpatient of RajaRajeswari Medical College & Hospital, Bengaluru, Karnataka, India, who form the subjects for the study conducted from August 2015 to July 2016 (12 months) and who matched the inclusion criteria. Data were collected after obtaining informed/written consent from patient. After detailed history, detailed clinical examination, and general physical and systemic examinations, fundoscopy was carried out and relevant laboratory investigations were done. Results and conclusion The overall occurrence of microalbuminuria was 38%. The occurrence of microalbuminuria showed a direct relationship with increasing age (p = 0.053) and increasing duration of diabetes since diagnosis. A hemoglobin (Hb)A1c value above 7% is associated with 50% or higher incidence of microalbuminuria (p = 0.018). Patients with a body mass index of more than 25kg/m2 have increased risk of developing type II DM and significant increase in microalbuminuria. The incidence of microalbuminuria is significantly associated with How to cite this article Bhavya N, Kumar VA. A Study of Association between Microalbuminuria and Microvascular Complications in Type II Diabetes Mellitus Patients in RajaRajeswari Medical College and Hospital, Karnataka. J Med Sci 2017;3(1):6-10.


Retina ◽  
2019 ◽  
Vol 39 (2) ◽  
pp. 274-280 ◽  
Author(s):  
Anne-Laure Vié ◽  
Laurent Kodjikian ◽  
Emilie Agard ◽  
Nicolas Voirin ◽  
Hussam El Chehab ◽  
...  

2019 ◽  
Vol 17 (5) ◽  
pp. 476-490 ◽  
Author(s):  
Lucas Moritz Wiggenhauser ◽  
Jens Kroll

Endothelial dysfunction is an initial pathophysiological mechanism of vascular damage and is further recognized as an independent predictor of negative prognosis in diabetes-induced micro- and macrovascular complications. Insight into the capability of zebrafish to model metabolic disease like obesity and type II diabetes has increased and new evidence on the induction of vascular pathologies in zebrafish through metabolic disease is available. Here, we raise the question, if zebrafish can be utilized to study the initial impairments of vascular complications in metabolic disorders. In this review, we focus on the advances made to develop models of obesity and type II diabetes in zebrafish, discuss the key points and characteristics of these models, while highlighting the available information linked to the development of endothelial dysfunction in zebrafish and man. We show that larval and adult zebrafish develop metabolic dysregulation in the settings of obesity and diabetes, exhibiting pathophysiological mechanisms, which mimic the human condition. The most important genes related to endothelial dysfunction are present in zebrafish and further display similar functions as in mammals. Several suggested contributors to endothelial dysfunction found in these models, namely hyperinsulinaemia, hyperglycaemia, hyperlipidaemia and hyperleptinaemia are highlighted and the available data from zebrafish are summarised. Many underlying processes of endothelial dysfunction in obesity and diabetes are fundamentally present in zebrafish and provide ground for the assumption, that zebrafish can develop endothelial dysfunction. Conservation of basic biological mechanisms is established for zebrafish, but focused investigation on the subject is now needed as validation and particularly more research is necessary to understand the differences between zebrafish and man. The available data demonstrate the relevance of zebrafish as a model for metabolic disease and their ability to become a proponent for the investigation of vascular damage in the settings of obesity and diabetes.


Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 1819-1819
Author(s):  
Francois Girodon ◽  
Julien Broseus ◽  
Ji-Hye Park-Alexandre ◽  
Sylvie Hermouet ◽  
Serge Carillo

Abstract Calreticulin (CALR) mutations have recently been reported in JAK2- and MPL-negative Myeloproliferative Neoplasms (MPN), particularly essential thrombocythemia (ET) and primary myelofibrosis (PMF).The clinical course of sporadic CALR-mutated patients seems to be more indolent than that of JAK2-mutated patients. In contrast, no CALR mutation has been found in the 647 published cases of Polycythemia Vera (PV) patients tested. Consequently, CALR mutations were considered exclusive to JAK2 and MPL mutations. Since 98% of PV patients harbor a JAK2 mutation (mostly the V617F mutation in exon 14 and more rarely, in exon 12), the absence of CALR mutations in PV seemed logical. Here, we describe two JAK2V617F-negative PV patients who presented with a CALR mutation at the time of diagnosis. Patient # 1 had hemoglobin at 168 g/L, hematocrit at 51.3%, and increased red cell mass (RCM) at 128% associated with a normal erythropoietin level. The bone marrow biopsy showed hypercellularity for age, panmyelosis associated with normal megakaryocytes and rare isolated abnormal enlarged forms. Using reticulin stain, no myelofibrosis was noted. Patient # 2 had hemoglobin at 194 g/L, hematocrit at 53% and low erythropoietin level without any dehydration. Both had moderately elevated platelet counts (658 and 575 x109/L respectively) with normal leukocyte counts. They were negative for BCR-ABL. No mutation was found in JAK2 exons 12, 13 and 14 by HRM and allele-specific real-time PCR or in MPL exon 10. Using HRM analysis, CALR mutations were suspected in both patients and confirmed using Sanger sequencing and product sizing analyses: CALR mutations were in both patients type 1 deletions (52-bp deletion; c.1092_1143del). To complete genomic tests made on peripheral blood granulocytes, we performed colony assays in methylcellulose and in collagen, picked single BFU-E colonies grown after 14 days in the presence of erythropoietin, and genotyped each colony individually for CALR. Of the 27 colonies genotyped, 6 had no PCR amplification and 21 harboured the same CALR mutation observed in peripheral blood granulocytes, i.e 52-bp deletion; c.1092_1143del. BFU-E were found heterozygous for CALR, with a mean allele burden of 49%. To our knowledge, these patients are the first cases of CALR-mutated PV to be reported. However, since a biclonalJAK2V617F and CALR MPN case recently reported, we cannot rule out the possibility of a biclonal disease involving a yet unknown mutation associated with a CALR mutation. On the other hand, the presence of a CALR mutation both in peripheral granulocytes and in BFU-E suggests that the CALR mutation plays a role in the polycythemia phenotype. Our observations highlight the fact that in the absence of JAK2 mutation, CALR mutations can also be associated with PV. In conclusion, our data indicate that testing JAK2-negative PV patients for CALR mutations may be useful. Disclosures No relevant conflicts of interest to declare.


Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 2180-2180
Author(s):  
Sylvie Cointe ◽  
Eric Rhéaume ◽  
Catherine Martel ◽  
Olivier P. Blanc-Brude ◽  
Evemie Dubé ◽  
...  

Abstract Background: CD34+ progenitor cells are growingly used for vascular repair. However, in diabetic individuals with cardiovascular diseases, these cells have dysfunctional engraftment capabilities, which compromise their use for autologous cell therapy. The thrombospondin-1-derived peptide RFYVVMWK has previously been reported to stimulate cell adhesiveness through CD47 and integrin activation pathways. Objectives: Our aim was to test whether RFYVVMWK preconditioning could modulate CD34+ cells phenotype and enhance its pro-adhesive properties in diabetic patients. Patients/methods: Peripheral blood mononuclear CD34+ cells isolated from 40 atherosclerotic patients with (TIID; n=20) or without (NonTIID; n=20) type II diabetes were pre-conditioned with 30µM of RFYVVMWK (or truncated peptide RFYVVM. CD34+ cell adhesion was assessed on a vitronectin-collagen matrix and on a TNFa or IL-1b-stimulated HUVEC monolayers. Adhesion receptors, platelet/CD34+ cell conjugates, and cell viability were analyzed by flow cytometry and confocal microscopy. Results: RFYVVMWK increased by 8 folds the adhesion of TIID CD34+ cells to the vitronectin-collagen matrix (p <0.001) corresponding to a 3-fold increase compared to unstimulated NonTIID CD34+ cells. The peptide induced the formation of platelet/CD34+ conjugates and increased the expression of TSP-1, CD29, CD51, and CD62P in both TIID and NonTIID cells. However, RFYVVMWK treatment did not affect the viability/apoptosis of CD34+ progenitor cells. Conclusions: Priming CD34+ cells with RFYVVMWK may be instrumental to enhance their vascular engraftment during autologous pro-angiogenic cell therapy. Disclosures No relevant conflicts of interest to declare.


2019 ◽  
Author(s):  
Rebecca Getachew Wodajo ◽  
Dereje Negussie Woyessa ◽  
Bezawit Gezahegn Shiferaw

Abstract Background: Diabetes mellitus (DM) is one of the most common non-communicable diseases with an increasing incidence worldwide. Diabetic retinopathy (DR), one of the chronic micro vascular complications, is a major global cause of total blindness. As the global prevalence of diabetes increases, so will the numbers of people with diabetic retinopathy. Hence, this study aims to determine the magnitude and severity of DR in newly diagnosed type 2 DM patients in Menelik II Hospital. Method: institutional based cross sectional study was conducted on newly diagnosed Type 2 DM patients. Data were analyzed using Statistical Package for Social Science (SPSS) 20 version computer software. Result: A total of 111 patients with newly diagnosed type II diabetes participated in this study. The female to male ration was 1: 1.84. The mean age of study participants was 50.5 (± 10.6years) with a range of 30-70 years. Majority of respondents (47.7%) completed secondary school while 18.0% were unable to read and write. The average BMI of participants was 25.0 ± 3.6kg/m2, 37 (33.3%) were overweight, 11(9.9%) were obese. Average FBS at diagnosis was 265.25 (0±99.4 mg/dl) for all patients and about 24.3% of the total study population had hypertension. Diabetic retinopathy was detected in 24 (21.6%) patients out of whom 7(29.16%) had mild NPDR, 8 (33.33%) moderate NPDR 5(20.8%)severe NPDR (20.8%) and 4 (16.7%)PDR . Conclusion: The prevalence of diabetic retinopathy at time of diagnosis among type II diabetes showed 21.6%. This high number of undiagnosed DR indicate early and regular screening for diabetic retinopathy among diabetic patients and more aggressive management of modifiable risk factors could reduce the numbers of people who develop vision-threatening retinopathy.


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