Necrotizing fasciitis not always caused by bacteria but by a combination of tissue damage and a gene defect
A new Finnish-led study suggests that necrotizing fasciitis, a life-threatening inflammation of connective tissue that leads to tissue necrosis, may be caused by a gene defect. The findings offer hope for an effective new treatment for the disease that could avoid repeated surgery and amputations.
Necrotizing fasciitis is a soft tissue infection that rapidly leads to tissue necrosis. Around 50 patients a year are hospitalized with the disease in the Helsinki Metropolitan Area.
The disease can be treated with antibiotics and immediate surgery. However, the tissue damage caused by a strong inflammatory reaction is difficult to stop and patients often need to undergo emergency surgery. Necrotizing fasciitis can lead to a rapid need to amputate limbs, for example, even in previously healthy individuals.
Inflammation-activating gene defect located
Severe fasciitis has previously been thought to be caused by so-called carnivorous bacteria. Previously, the same Finnish researchers discovered a form of fasciitis that occurs as a result of a routine procedure or tissue damage combined with a gene defect in the patient's genome. This is when the body overreacts to tissue damage and causes inflammation. Bacteria are often not found at all or the infection is of minor importance.
Researchers have found an inflammation-activating defect in the NFKB1 gene in three Finnish and three foreign pediatric and adult patients with severe fasciitis. NFKB1 is one of the most important genes regulating the immune system.
The study investigated the mechanism of how a gene defect causes an excessive and violent inflammatory response. In patients, mild injury, surgery or infection had triggered an uncontrolled inflammatory reaction leading to severe deep tissue inflammation. The immune cells of patients carrying the gene defect secreted large amounts of mediators greatly accelerating inflammation.
Antirheumatic medicines help with inflammation
Several of the patients in the study have already been treated with immunosuppressive drugs. This has significantly reduced inflammation and prevented the disease from progressing and relapsing.
“With new gene-editing techniques, we were able to identify the nature of the inflammatory response and the mechanisms by which a gene defect causes a strong inflammatory response. We can control excessive inflammation with modern antirheumatic drugs. Due to the severity of their inflammation, some patients have already been treated with anti-inflammatory drugs with very promising results,” says Professor Kari Eklund from the HUS Inflammation Center who led the study.
"If these findings are confirmed, it will be important to investigate in the future whether targeting the mediators now found could help in the treatment of other necrotizing fasciitis."
In the next phase, the research team plans to find out how many people with fasciitis have a genetic predisposing factor to the disease.
Researchers from the University of Helsinki, the Institute of Biotechnology, Oulu University Hospital, the University of Oulu, the Finnish and Norwegian Institutes of Molecular Medicine, Argentina, the UK, and Germany also participated in the study led by HUS researchers.
Keywords
Contacts
Kari EklundProfessor of RheumatologyHUS Inflammation Center and the University of Helsinki
Tel:040 583 2866kari.eklund@hus.fiMikko SeppänenChief PhysicianHUS New Children's Hospital and Rare Diseases Center and the University of Helsinki
Tel:+358 50 427 9606mikko.seppanen@hus.fiLinks
About HUS
HUS Helsinki University Hospital is the biggest provider of specialized healthcare in Finland. Our high expertise is internationally recognized and accredited. As a university hospital, we are on the cutting edge of developing and evaluating our treatment methods and activities.
HUS treats almost 700,000 patients every year. Our nearly 27,000 professionals work to provide the best possible care for our patients. We are responsible for organizing specialized health care in the Uusimaa region. The treatment of many rare and difficult diseases in Finland has been centralized to HUS as well.
HUS – Leading healthcare
Subscribe to releases from HUS
Subscribe to all the latest releases from HUS by registering your e-mail address below. You can unsubscribe at any time.
Latest releases from HUS
HUS-sammanslutningens styrelse sammanträder den 6 maj för att besluta om kommande ändringar i servicenätet i anknytning till balanseringen av ekonomin2.5.2024 15:00:45 EEST | Tiedote
De föreslagna ändringarna i servicenätet 2025–2027 gäller speciellt Lojo och Borgå sjukhus, där operationerna nattetid och under veckoslut enligt förslaget upphör. Samtidigt flyttas också förlossningsverksamheten bort från Lojo sjukhus till HUS andra förlossningssjukhus. I och med förändringarna av sjukhusen profiler kan HUS öka den planerade operativa verksamheten betydligt vid dessa sjukhus.
HUSin yhtymähallitus kokoontuu 6.5. päättämään palveluverkon tulevista muutoksista liittyen talouden tasapainottamiseen2.5.2024 15:00:45 EEST | Tiedote
Palveluverkkoon esitetyt muutokset vuosille 2025–2027 koskevat erityisesti Lohjan ja Porvoon sairaaloita, joissa loppuu esityksen mukaan öisin ja viikonloppuisin tehtävät leikkaukset. Samalla myös synnytystoiminta siirtyy pois Lohjan sairaalasta HUSin muihin synnytyssairaaloihin. Profiilien muutosten myötä HUS pystyy lisäämään suunnitelmallista leikkaustoimintaa näissä sairaaloissa merkittävästi.
HUS samjourer betjänar på valborg30.4.2024 07:35:00 EEST | Tiedote
Valborg påverkar tillhandahållandet av brådskande vård men hjälp finns att få. Vid jourerna har vi förberett oss speciellt på att behandla hälsoproblem orsakade av användning av alkohol och droger.
HUSin yhteispäivystykset palvelevat vappuna30.4.2024 07:35:00 EEST | Tiedote
Vappu vaikuttaa kiireellisen hoidon toteutukseen, mutta apua on saatavilla. Olemme päivystyksissä varautuneet eritysesti päihteiden käytön aiheuttamien terveysongelmien hoitoon.
HUS Emergency Departments open on May Day30.4.2024 07:35:00 EEST | Press release
May Day on May 1st can affect urgent care, but help is available. At the emergency departments, we are specifically prepared to deal with health problems caused by substance abuse.
In our pressroom you can read all our latest releases, find our press contacts, images, documents and other relevant information about us.
Visit our pressroom