Monogenic autoinflammatory diseases in adults – a challenge to rheumatologic practice at the onset of the Polish national programme of interleukin 1 inhibitor treatment
Monogenic autoinflammatory diseases (AIDs, formerly known as hereditary periodic fever syndromes) cover a spectrum of diseases which lead to chronic or recurrent inflammation caused by activation of the innate immune system. The most common monogenic AID is familial Mediterranean fever. Monogenic au...
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doaj-b7f39463402e454dbba2fdab9881fee32020-11-25T03:00:39ZengTermedia Publishing HouseRheumatology0034-62332084-98342019-12-0157632633510.5114/reum.2019.9129839446Monogenic autoinflammatory diseases in adults – a challenge to rheumatologic practice at the onset of the Polish national programme of interleukin 1 inhibitor treatmentMarcin MilchertJoanna MakowskaOlga BrzezińskaMarek BrzoskoEwa Więsik-SzewczykMonogenic autoinflammatory diseases (AIDs, formerly known as hereditary periodic fever syndromes) cover a spectrum of diseases which lead to chronic or recurrent inflammation caused by activation of the innate immune system. The most common monogenic AID is familial Mediterranean fever. Monogenic autoinflammatory diseases are generally considered intracellular signalling defects. Some stereotypical knowledge may be misleading; e.g. monogenic AIDs are not exclusively found in children, family history is often negative, fever frequently is not a leading manifestation and frequency of attacks in adults is usually variable. Lack of genetic confirmation should not stop anti-inflammatory ex juvantibus therapy. The pattern of tissue injury in AIDs is basically different from that observed in autoimmunity. There is no autoaggression against organ-specific antigens, but substantial damage (amyloidosis, cachexia, premature cardiovascular disease) is secondary to long-lasting inflammation. The Polish national programme of anti-interleukin 1 treatment opens new possibilities for the treatment. However, monogenic AIDs are frequently misdiagnosed and more awareness is needed.https://www.termedia.pl/Monogenic-autoinflammatory-diseases-in-adults-a-challenge-to-rheumatologic-practice-at-the-onset-of-the-Polish-national-programme-of-interleukin-1-inhibitor-treatment,18,39446,1,1.htmlmonogenic autoinflammatory diseases amyloidosis recurrent fevers |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Marcin Milchert Joanna Makowska Olga Brzezińska Marek Brzosko Ewa Więsik-Szewczyk |
spellingShingle |
Marcin Milchert Joanna Makowska Olga Brzezińska Marek Brzosko Ewa Więsik-Szewczyk Monogenic autoinflammatory diseases in adults – a challenge to rheumatologic practice at the onset of the Polish national programme of interleukin 1 inhibitor treatment Rheumatology monogenic autoinflammatory diseases amyloidosis recurrent fevers |
author_facet |
Marcin Milchert Joanna Makowska Olga Brzezińska Marek Brzosko Ewa Więsik-Szewczyk |
author_sort |
Marcin Milchert |
title |
Monogenic autoinflammatory diseases in adults – a challenge to rheumatologic practice at the onset of the Polish national programme of interleukin 1 inhibitor treatment |
title_short |
Monogenic autoinflammatory diseases in adults – a challenge to rheumatologic practice at the onset of the Polish national programme of interleukin 1 inhibitor treatment |
title_full |
Monogenic autoinflammatory diseases in adults – a challenge to rheumatologic practice at the onset of the Polish national programme of interleukin 1 inhibitor treatment |
title_fullStr |
Monogenic autoinflammatory diseases in adults – a challenge to rheumatologic practice at the onset of the Polish national programme of interleukin 1 inhibitor treatment |
title_full_unstemmed |
Monogenic autoinflammatory diseases in adults – a challenge to rheumatologic practice at the onset of the Polish national programme of interleukin 1 inhibitor treatment |
title_sort |
monogenic autoinflammatory diseases in adults – a challenge to rheumatologic practice at the onset of the polish national programme of interleukin 1 inhibitor treatment |
publisher |
Termedia Publishing House |
series |
Rheumatology |
issn |
0034-6233 2084-9834 |
publishDate |
2019-12-01 |
description |
Monogenic autoinflammatory diseases (AIDs, formerly known as hereditary periodic fever syndromes) cover a spectrum of diseases which lead to chronic or recurrent inflammation caused by activation of the innate immune system. The most common monogenic AID is familial Mediterranean fever. Monogenic autoinflammatory diseases are generally considered intracellular signalling defects. Some stereotypical knowledge may be misleading; e.g. monogenic AIDs are not exclusively found in children, family history is often negative, fever frequently is not a leading manifestation and frequency of attacks in adults is usually variable. Lack of genetic confirmation should not stop anti-inflammatory ex juvantibus therapy. The pattern of tissue injury in AIDs is basically different from that observed in autoimmunity. There is no autoaggression against organ-specific antigens, but substantial damage (amyloidosis, cachexia, premature cardiovascular disease) is secondary to long-lasting inflammation.
The Polish national programme of anti-interleukin 1 treatment opens new possibilities for the treatment. However, monogenic AIDs are frequently misdiagnosed and more awareness is needed. |
topic |
monogenic autoinflammatory diseases amyloidosis recurrent fevers |
url |
https://www.termedia.pl/Monogenic-autoinflammatory-diseases-in-adults-a-challenge-to-rheumatologic-practice-at-the-onset-of-the-Polish-national-programme-of-interleukin-1-inhibitor-treatment,18,39446,1,1.html |
work_keys_str_mv |
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