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JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital

(1) Background: Polycythaemia is defined by an increase in haemoglobin (Hb) concentration, haematocrit (Hct) or red blood cell (RBC) count above the reference range adjusted to age, sex and living altitude. JAK2 unmutated polycythaemia is frequent but under-investigated in original publications. In...

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Autores principales: Jalowiec, Katarzyna Aleksandra, Vrotniakaite-Bajerciene, Kristina, Jalowiec, Jakub, Frey, Noel, Capraru, Annina, Wojtovicova, Tatiana, Joncourt, Raphael, Angelillo-Scherrer, Anne, Tichelli, Andre, Porret, Naomi Azur, Rovó, Alicia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9225037/
https://www.ncbi.nlm.nih.gov/pubmed/35743463
http://dx.doi.org/10.3390/jcm11123393
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author Jalowiec, Katarzyna Aleksandra
Vrotniakaite-Bajerciene, Kristina
Jalowiec, Jakub
Frey, Noel
Capraru, Annina
Wojtovicova, Tatiana
Joncourt, Raphael
Angelillo-Scherrer, Anne
Tichelli, Andre
Porret, Naomi Azur
Rovó, Alicia
author_facet Jalowiec, Katarzyna Aleksandra
Vrotniakaite-Bajerciene, Kristina
Jalowiec, Jakub
Frey, Noel
Capraru, Annina
Wojtovicova, Tatiana
Joncourt, Raphael
Angelillo-Scherrer, Anne
Tichelli, Andre
Porret, Naomi Azur
Rovó, Alicia
author_sort Jalowiec, Katarzyna Aleksandra
collection PubMed
description (1) Background: Polycythaemia is defined by an increase in haemoglobin (Hb) concentration, haematocrit (Hct) or red blood cell (RBC) count above the reference range adjusted to age, sex and living altitude. JAK2 unmutated polycythaemia is frequent but under-investigated in original publications. In this retrospective cohort study, we investigated the clinical and laboratory data, underlying causes, management and outcomes of JAK2 unmutated polycythaemia patients. (2) Methods: The hospital database was searched to identify JAK2 unmutated patients fulfilling WHO 2016 Hb/Hct criteria for PV (Hb >16.5 g/dL in men and >16 g/dL in women, or Hct > 49% in men and >48% in women, or RBC mass > 25% above mean normal predicted value) between 2008 and 2019. Clinical and laboratory data were collected and analysed. (3) Results: From 727,731 screened patients, 294 (0.04%) were included, the median follow-up time was 47 months. Epo and P50 showed no clear pattern in differentiating causes of polycythaemia. In 30%, the cause remained idiopathic, despite extensive work-up. Sleep apnoea was the primary cause, also in patients under 30. Around 20% had received treatment at any time, half of whom had ongoing treatment at the end of follow-up. During follow-up, 17.2% developed a thromboembolic event, of which 8.5% were venous and 8.8% arterial. The mortality was around 3%. (4) Conclusions: Testing for Epo and P50 did not significantly facilitate identification of underlying causes. The frequency of sleep apnoea stresses the need to investigate this condition. Idiopathic forms are common. A diagnostic flowchart based on our data is proposed here. NGS testing should be considered in young patients with persisting polycythaemia, irrespective of Epo and P50 levels.
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spelling pubmed-92250372022-06-24 JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital Jalowiec, Katarzyna Aleksandra Vrotniakaite-Bajerciene, Kristina Jalowiec, Jakub Frey, Noel Capraru, Annina Wojtovicova, Tatiana Joncourt, Raphael Angelillo-Scherrer, Anne Tichelli, Andre Porret, Naomi Azur Rovó, Alicia J Clin Med Article (1) Background: Polycythaemia is defined by an increase in haemoglobin (Hb) concentration, haematocrit (Hct) or red blood cell (RBC) count above the reference range adjusted to age, sex and living altitude. JAK2 unmutated polycythaemia is frequent but under-investigated in original publications. In this retrospective cohort study, we investigated the clinical and laboratory data, underlying causes, management and outcomes of JAK2 unmutated polycythaemia patients. (2) Methods: The hospital database was searched to identify JAK2 unmutated patients fulfilling WHO 2016 Hb/Hct criteria for PV (Hb >16.5 g/dL in men and >16 g/dL in women, or Hct > 49% in men and >48% in women, or RBC mass > 25% above mean normal predicted value) between 2008 and 2019. Clinical and laboratory data were collected and analysed. (3) Results: From 727,731 screened patients, 294 (0.04%) were included, the median follow-up time was 47 months. Epo and P50 showed no clear pattern in differentiating causes of polycythaemia. In 30%, the cause remained idiopathic, despite extensive work-up. Sleep apnoea was the primary cause, also in patients under 30. Around 20% had received treatment at any time, half of whom had ongoing treatment at the end of follow-up. During follow-up, 17.2% developed a thromboembolic event, of which 8.5% were venous and 8.8% arterial. The mortality was around 3%. (4) Conclusions: Testing for Epo and P50 did not significantly facilitate identification of underlying causes. The frequency of sleep apnoea stresses the need to investigate this condition. Idiopathic forms are common. A diagnostic flowchart based on our data is proposed here. NGS testing should be considered in young patients with persisting polycythaemia, irrespective of Epo and P50 levels. MDPI 2022-06-13 /pmc/articles/PMC9225037/ /pubmed/35743463 http://dx.doi.org/10.3390/jcm11123393 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Jalowiec, Katarzyna Aleksandra
Vrotniakaite-Bajerciene, Kristina
Jalowiec, Jakub
Frey, Noel
Capraru, Annina
Wojtovicova, Tatiana
Joncourt, Raphael
Angelillo-Scherrer, Anne
Tichelli, Andre
Porret, Naomi Azur
Rovó, Alicia
JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital
title JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital
title_full JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital
title_fullStr JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital
title_full_unstemmed JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital
title_short JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital
title_sort jak2 unmutated polycythaemia—real-world data of 10 years from a tertiary reference hospital
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9225037/
https://www.ncbi.nlm.nih.gov/pubmed/35743463
http://dx.doi.org/10.3390/jcm11123393
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