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
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	167
Publication status	Published - 19 Apr 2023

Cite this

@article{607ab88cf7e7478d8458eed013af0929,

title = "Chronische anemie en onverklaarde ontsteking",

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}",

year = "2023",

month = apr,

day = "19",

language = "Dutch",

volume = "167",

journal = "Nederlands Tijdschrift voor Geneeskunde",

issn = "0028-2162",

publisher = "Bohn Stafleu van Loghum",

}

TY - JOUR

T1 - Chronische anemie en onverklaarde ontsteking

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.

UR - http://www.scopus.com/inward/record.url?scp=85152978825&partnerID=8YFLogxK

M3 - Article

C2 - 37078566

AN - SCOPUS:85152978825

SN - 0028-2162

VL - 167

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

ER -

Chronische anemie en onverklaarde ontsteking

Abstract

Other files and links

Fingerprint

Cite this