Chronische anemie en onverklaarde ontsteking: Denk aan het VEXAS-syndroom

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: Denk aan het VEXAS-syndroom

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

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

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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.

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	17
Publication status	Published - 19 Apr 2023

Keywords

Male
Middle Aged
Humans
Aged
Anemia/diagnosis
Anemia, Macrocytic
Inflammation
Mutation

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d7306Final published version, 732 KBLicence: Taverne

https://www.ntvg.nl/artikelen/chronische-anemie-en-onverklaarde-ontsteking

Cite this

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title = "Chronische anemie en onverklaarde ontsteking: Denk aan het VEXAS-syndroom",

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.",

keywords = "Male, Middle Aged, Humans, Aged, Anemia/diagnosis, Anemia, Macrocytic, Inflammation, Mutation",

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\}",

year = "2023",

month = apr,

day = "19",

language = "Dutch",

volume = "167",

journal = "Nederlands Tijdschrift voor Geneeskunde",

issn = "0028-2162",

publisher = "Vereniging Nederlands Tijdschrift voor Geneeskunde",

number = "17",

}

TY - JOUR

T1 - Chronische anemie en onverklaarde ontsteking

T2 - Denk aan het VEXAS-syndroom

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.

KW - Male

KW - Middle Aged

KW - Humans

KW - Aged

KW - Anemia/diagnosis

KW - Anemia, Macrocytic

KW - Inflammation

KW - Mutation

UR - https://www.scopus.com/pages/publications/85152978825

M3 - Article

C2 - 37078566

AN - SCOPUS:85152978825

SN - 0028-2162

VL - 167

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

IS - 17

M1 - D7306

ER -

Chronische anemie en onverklaarde ontsteking: Denk aan het VEXAS-syndroom

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Keywords

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