Chronische anemie en onverklaarde ontsteking

Paul L.A. van Daele; Caspar I. van der Made; Helen L. Leavis; A. E.Liesbeth Hak; Judith Potjewijd; Abraham Bram Rutgers

Chronische anemie en onverklaarde ontsteking

Translated title of the contribution: Chronic anemia and unexplained inflammation: think of VEXAS syndrome

Paul L.A. van Daele^*, Caspar I. van der Made, Helen L. Leavis, A. E.Liesbeth Hak, Judith Potjewijd, Abraham Bram Rutgers

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

BACKGROUND: VEXAS-syndrome is an X-linked acquired multisystemic autoinflammatory disease caused by a somatic mutation in UBA1. CASE DESCRIPTION: In this manuscript we describe a 79-year-old male suffering from skin lesions, macrocytic anemia and lab results showing inflammation in which, based on finding a mutation in UBA1, VEXAS was diagnosed. He was treated with a combination of high dose corticosteroids and anti-IL-6 with good response. CONCLUSION: In middle aged males presenting with multisystemic inflammation without evidence of infection a diagnosis of VEXAS should be considered, especially if there is evidence of a macrocytic anemia. Early testing for UBA1 mutations helps in making the diagnosis. Despite treatment with intensive immunosuppression mortality remains high.

Translated title of the contribution	Chronic anemia and unexplained inflammation: think of VEXAS syndrome
Original language	Dutch
Article number	D7306
Number of pages	5
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	167
Issue number	1
Publication status	Published - 19 Apr 2023

Cite this

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abstract = "BACKGROUND: VEXAS-syndrome is an X-linked acquired multisystemic autoinflammatory disease caused by a somatic mutation in UBA1. CASE DESCRIPTION: In this manuscript we describe a 79-year-old male suffering from skin lesions, macrocytic anemia and lab results showing inflammation in which, based on finding a mutation in UBA1, VEXAS was diagnosed. He was treated with a combination of high dose corticosteroids and anti-IL-6 with good response. CONCLUSION: In middle aged males presenting with multisystemic inflammation without evidence of infection a diagnosis of VEXAS should be considered, especially if there is evidence of a macrocytic anemia. Early testing for UBA1 mutations helps in making the diagnosis. Despite treatment with intensive immunosuppression mortality remains high.",

author = "{van Daele}, {Paul L.A.} and {van der Made}, {Caspar I.} and Leavis, {Helen L.} and Hak, {A. E.Liesbeth} and Judith Potjewijd and Rutgers, {Abraham Bram}",

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AU - van Daele, Paul L.A.

AU - van der Made, Caspar I.

AU - Leavis, Helen L.

AU - Hak, A. E.Liesbeth

AU - Potjewijd, Judith

AU - Rutgers, Abraham Bram

PY - 2023/4/19

Y1 - 2023/4/19

N2 - BACKGROUND: VEXAS-syndrome is an X-linked acquired multisystemic autoinflammatory disease caused by a somatic mutation in UBA1. CASE DESCRIPTION: In this manuscript we describe a 79-year-old male suffering from skin lesions, macrocytic anemia and lab results showing inflammation in which, based on finding a mutation in UBA1, VEXAS was diagnosed. He was treated with a combination of high dose corticosteroids and anti-IL-6 with good response. CONCLUSION: In middle aged males presenting with multisystemic inflammation without evidence of infection a diagnosis of VEXAS should be considered, especially if there is evidence of a macrocytic anemia. Early testing for UBA1 mutations helps in making the diagnosis. Despite treatment with intensive immunosuppression mortality remains high.

AB - BACKGROUND: VEXAS-syndrome is an X-linked acquired multisystemic autoinflammatory disease caused by a somatic mutation in UBA1. CASE DESCRIPTION: In this manuscript we describe a 79-year-old male suffering from skin lesions, macrocytic anemia and lab results showing inflammation in which, based on finding a mutation in UBA1, VEXAS was diagnosed. He was treated with a combination of high dose corticosteroids and anti-IL-6 with good response. CONCLUSION: In middle aged males presenting with multisystemic inflammation without evidence of infection a diagnosis of VEXAS should be considered, especially if there is evidence of a macrocytic anemia. Early testing for UBA1 mutations helps in making the diagnosis. Despite treatment with intensive immunosuppression mortality remains high.

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JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

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Chronische anemie en onverklaarde ontsteking

Abstract

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