Algorithmic evaluation of hereditary erythrocytosis: Pathways and caveats

Oliveira, Jennifer L.

doi:10.1111/ijlh.13019

Cited by 9 publications

(9 citation statements)

References 28 publications

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“…JAK2 genetic testing was performed in all of our patients and serum EPO level in 96%. After a thorough documentation review of all patients secondary erythrocytosis was found in 34/116 (29%) patients, 15/116 (13%) remained idiopathic despite adequate diagnostics, whereas a quite high number of patients, 67/116 (58%) would need further investigations for characterisation of erythrocytosis according to modern diagnostic algorithms [ 2 – 4 , 11 , 28 ]. It seems that patients with non-clonal erythrocytosis were not considered at high risk for complications and therefore were not referred for further investigations.…”

Section: Discussionmentioning

confidence: 99%

“…Patient referral to the haematologist is often based on repeated complete blood count (CBC) without a thorough history, physical examination, or additional laboratory testing. It is important to be familiar with the contemporary evaluation of erythrocytosis, utilizing algorithms for efficient testing in the majority of patients in everyday clinical practice [2][3][4][5]11]. Whereas PV is almost always easily confirmed, other types of erythrocytosis are often less well recognized, weakly proven or even ignored [12][13][14][15][16].…”

Section: Introductionmentioning

confidence: 99%

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Diagnosis and management of non-clonal erythrocytosis remains challenging: a single centre clinical experience

et al. 2021

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Erythrocytosis has a diverse background. While polycythaemia vera has well defined criteria, the diagnostic approach and management of other types of erythrocytosis are more challenging. The aim of study was to retrospectively analyse the aetiology and management of non-clonal erythrocytosis patients referred to a haematology outpatient clinic in an 8-year period using a 3-step algorithm. The first step was inclusion of patients with Hb > 185 g/L and/or Hct > 0.52 in men and Hb > 165 g/L and/or Hct > 0.48 in women on two visits ≥ two months apart, thus confirming true erythrocytosis. Secondly, polycythaemia vera was excluded and secondary causes of erythrocytosis (SE) identified. Thirdly, idiopathic erythrocytosis patients (IE) were referred to next-generation sequencing for possible genetic background evaluation. Of the 116 patients, 75 (65%) are men and 41 (35%) women, with non-clonal erythrocytosis 34/116 (29%) had SE, 15/116 (13%) IE and 67/116 (58%) stayed incompletely characterized (ICE). Patients with SE were significantly older and had significantly higher Hb and Hct compared to patients with IE. Most frequently, SE was attributed to obstructive sleep apnoea and smoking. Phlebotomies were performed in 56, 53 and 40% of patients in the SE, IE, and ICE group, respectively. Approx. 70% of patients in each group received aspirin. Thrombotic events were registered in 12, 20 and 15% of SE, IE and ICE patients, respectively. Congenital erythrocytosis type 4 (ECYT4) was diagnosed in one patient. The study demonstrates real-life management of non-clonal erythrocytosis which could be optimized using a 3-step diagnostic algorithm.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Diagnosis and management of non-clonal erythrocytosis remains challenging: a single centre clinical experience

et al. 2021

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“…Similarly, in less than 5% of a and b hemoglobin variants with high oxygen affinity (HOA HGB), normal or slightly decreased P 50 may be observed. P 50 value is normal in patients with erythrocytosis and BPGM mutation, as well [9][10][11][12].…”

Section: Mutations Of Oxygen-sensing Pathways Genesmentioning

confidence: 95%

Medical dilemmas – erythrocytosis

Lewandowski

2020

Acta Haematologica Polonica

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Erythrocytosis is defined not only by an increase in the erythrocyte count, hemoglobin concentration, and hematocrit value, but also by the occurrence of specific symptoms, the intensity and frequency of which depend on the character of the initial genetic lesion. Ischemic episodes and thrombotic complications caused by increased blood viscosity are frequently the first clinical manifestation of the disease. This paper represents the current level of knowledge about the pathogenesis of erythrocytosis and the diagnostic algorithms used to precisely define the type of the disease.

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“…Primary erythrocytosis involves alteration in the erythropoietin (EPO) receptor (EpoR) either through an acquired or congenital process [ 3 ]. Patients with primary erythrocytosis generally have low levels of EPO and normal oxygen dissociation curves [ 4 ]. The most common acquired process is polycythemia vera, which is driven by a somatic mutation in the JAK2 signaling pathway of the EpoR [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Unexplained Hematocrit Increase after Therapeutic Phlebotomy in a Patient with Marked Erythrocytosis

Machhi

Cunningham

Hennrick

et al. 2022

Case Reports in Hematology

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We report a patient with hereditary erythrocytosis who underwent a therapeutic phlebotomy and had a post-phlebotomy hematocrit that was higher than the pre-phlebotomy hematocrit. We could not discern a reason for this hematocrit increase after phlebotomy. Instead of performing another phlebotomy, we performed an automated red cell depletion via an apheresis instrument. This procedure is essentially a red cell exchange, but 5% albumin is used as the replacement fluid instead of red blood cells. The patient’s hematocrit decreased from 80% to 39% after three consecutive daily red cell depletion procedures. We share our experience to report the unusual finding of a patient’s hematocrit that increased with phlebotomy and to raise awareness of the red cell depletion procedure.

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Algorithmic evaluation of hereditary erythrocytosis: Pathways and caveats

Cited by 9 publications

References 28 publications

Diagnosis and management of non-clonal erythrocytosis remains challenging: a single centre clinical experience

Diagnosis and management of non-clonal erythrocytosis remains challenging: a single centre clinical experience

Medical dilemmas – erythrocytosis

Unexplained Hematocrit Increase after Therapeutic Phlebotomy in a Patient with Marked Erythrocytosis

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