Tissue damage, gene defect – the culprits behind Necrotizing fasciitis

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Necrotizing fasciitis not always caused by bacteria but by a combination of tissue damage and a gene defect, according to a new study.

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, said the Helsinki-Uusimaa Hospital District (HUS) in a press release referring to the study.

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.

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.

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,” said 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.

Source: www.dailyfinland.fi

  1. Emily Johnson says

    It’s fascinating how this study shows that necrotizing fasciitis can be linked to a gene defect and tissue damage rather than solely bacterial infection. This could indeed pave the way for a more targeted and effective treatment approach. Looking forward to more advancements in this field!

  2. EmilySmith86 says

    Could this gene defect be a potential trigger for necrotizing fasciitis in individuals with no history of tissue damage?

    1. MaxJohnson78 says

      Yes, the study suggests that the gene defect combined with tissue damage could indeed trigger necrotizing fasciitis even in individuals with no previous history of tissue damage. It highlights the complex interplay between genetic factors and external triggers in the development of this life-threatening condition.

  3. JennaSmith_87 says

    Could this gene defect be identified through genetic testing in patients at risk of necrotizing fasciitis?

    1. JackJohnson_91 says

      Yes, the gene defect mentioned in the study could potentially be identified through genetic testing in patients at risk of necrotizing fasciitis. This could lead to earlier detection and possibly prevent the severe consequences of the disease. It’s an interesting avenue for further research and could offer new insights into personalized treatment options for patients.

  4. EmilySmith says

    Could this new treatment potentially eradicate the need for emergency surgery in patients with necrotizing fasciitis?

    1. MaxJohnson says

      It’s possible that this new treatment approach could reduce the necessity of emergency surgery in individuals suffering from necrotizing fasciitis. The study’s findings suggest a promising alternative that may lead to improved outcomes for patients.

  5. EmilyJohnson says

    Necrotizing fasciitis is a terrifying condition, and it’s fascinating to learn that tissue damage and gene defects can be the underlying causes rather than just bacterial infections. This new study is a significant step towards finding more effective treatments and potentially saving lives without the need for multiple surgeries and amputations.

  6. JennaSmith123 says

    Could you please provide more details on how the gene defect contributes to necrotizing fasciitis instead of bacterial infection?

    1. SamWilson456 says

      Sure, JennaSmith123. The gene defect identified in the study impacts the body’s inflammatory response to tissue damage. When a person with this gene defect experiences tissue damage, their immune system overreacts, causing severe inflammation that contributes to the development of necrotizing fasciitis. Unlike bacterial infections, where the focus is on targeting the bacteria with antibiotics, in cases related to the gene defect, the emphasis is on modulating the immune response to prevent excessive tissue damage. This new understanding opens up possibilities for more targeted treatments that address the root cause of the disease.

  7. EmilySmith says

    As the article suggests, it’s fascinating to learn that necrotizing fasciitis can be caused by a gene defect along with tissue damage. This new study opens up possibilities for more targeted and effective treatments. It’s crucial to understand the complex nature of the disease beyond bacterial causes.

  8. Emily99 says

    It’s fascinating to consider that necrotizing fasciitis could be linked to a gene defect rather than just bacteria. This new study opens up a whole new perspective on the disease and potential treatments. It’s amazing how our understanding of diseases continues to evolve!

  9. EmilySmith says

    I find this study fascinating. It’s eye-opening to learn that necrotizing fasciitis may not always be caused by bacteria but can have a genetic component as well. This could pave the way for more targeted treatments and hopefully reduce the need for repeated surgeries and amputations.

  10. JenniferSmith says

    I find it fascinating that necrotizing fasciitis can result not only from bacterial infections but also from a combination of tissue damage and gene defects. This sheds new light on the disease and opens up possibilities for more targeted treatments in the future.

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