Chronic anemia and unexplained inflammation : think of VEXAS syndrome
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.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:167 |
|---|---|
| Enthalten in: |
Nederlands tijdschrift voor geneeskunde - 167(2023) vom: 19. Apr. |
| Sprache: |
Niederländisch |
|---|
| Weiterer Titel: |
Chronische anemie en onverklaarde ontsteking |
|---|
| Beteiligte Personen: |
van Daele, Paul L A [VerfasserIn] |
|---|
| Themen: |
|---|
| Anmerkungen: |
Date Completed 21.04.2023 Date Revised 24.04.2023 published: Electronic Citation Status MEDLINE |
|---|
| Förderinstitution / Projekttitel: |
|
|---|
| PPN (Katalog-ID): |
NLM355823713 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM355823713 | ||
| 003 | DE-627 | ||
| 005 | 20231226065149.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2023 xx |||||o 00| ||dut c | ||
| 028 | 5 | 2 | |a pubmed24n1186.xml |
| 035 | |a (DE-627)NLM355823713 | ||
| 035 | |a (NLM)37078566 | ||
| 035 | |a (PII)D7306 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a dut | ||
| 100 | 1 | |a van Daele, Paul L A |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Chronic anemia and unexplained inflammation |b think of VEXAS syndrome |
| 246 | 3 | 3 | |a Chronische anemie en onverklaarde ontsteking |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 21.04.2023 | ||
| 500 | |a Date Revised 24.04.2023 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a BACKGROUND: VEXAS-syndrome is an X-linked acquired multisystemic autoinflammatory disease caused by a somatic mutation in UBA1 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a van der Made, Caspar I |e verfasserin |4 aut | |
| 700 | 1 | |a Leavis, Helen L |e verfasserin |4 aut | |
| 700 | 1 | |a Hak, A E Liesbeth |e verfasserin |4 aut | |
| 700 | 1 | |a Potjewijd, Judith |e verfasserin |4 aut | |
| 700 | 1 | |a Rutgers, Abraham Bram |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Nederlands tijdschrift voor geneeskunde |d 1946 |g 167(2023) vom: 19. Apr. |w (DE-627)NLM000034231 |x 1876-8784 |7 nnns |
| 773 | 1 | 8 | |g volume:167 |g year:2023 |g day:19 |g month:04 |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 167 |j 2023 |b 19 |c 04 | ||