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Necrotizing fasciitis, which causes tissue necrosis, may be caused by a genetic defect, says a Finnish-led study. In these patients, for example, a mild injury or infection triggers an uncontrolled inflammatory reaction.
Necrotizing fasciitis needs immediate treatment. Adobe Stock / AOP
Necrotizing fasciitis, i.e. inflammation of the muscle membrane, can be caused by a genetic defect, says Helsinki and Uusimaa Hospital District (Hus) in its press release.
In the study, the inflammation-activating gene defect in the NFKB1 gene has so far been found in three Finns and three foreigners with severe fasciitis.
The gene in question is one of the most important genes regulating the functioning of the immune system.
Necrotizing fasciitis is a soft tissue infection that can quickly lead to tissue necrosis.
Infections are treated with antibiotics and surgery. However, it is difficult to stop tissue destruction and patients have to undergo emergency surgeries several times.
Even in a previously healthy person, the disease can quickly lead to limb amputations, for example.
The study revealed that in patients carrying the genetic defect, the immune cells secreted large amounts of neurotransmitters that accelerate inflammation.
For them, only a mild injury, surgical procedure or infection led to severe deep tissue inflammation.
The study led by Husi researchers found that necrotizing fasciitis is not always caused by bacteria, but by a combination of tissue damage and a genetic defect. Adobe Stock / AOP
An exaggerated inflammatory reaction
In the past, severe fasciitis was considered to be inflammation caused by so-called flesh-eating bacteria. However, Finnish researchers have already discovered fasciitis, which breaks out due to the combined effect of a routine procedure or tissue damage and a genetic defect inherited by the patient.
The body then reacts to tissue damage and causes inflammation. However, bacteria are not always found at all.
The study also found that the inflammation could be effectively treated with modern rheumatic drugs. The results are promising: drugs that inhibit the functioning of the immune system significantly reduced inflammation and prevented disease progression and recurrence.
– If the findings are confirmed, in the future it will be important to find out whether medication directed at these newly discovered neurotransmitters could also help in the treatment of other necrotizing fasciitis, states the professor who led the research Kari Eklund Hus inflammation center in the bulletin.
Next, we are going to find out how many people with fasciitis have a genetic factor that predisposes them to the disease.
Necrotizing fasciitis takes about 50 patients to hospital every year in the capital region.
THE FACTS
A life-threatening infection
Necrotizing fasciitis is a rare inflammation leading to necrosis of soft tissues and muscles.
It is usually caused by the A-streptococcus bacteria, the infection caused by which can spread deep into the muscle tissues. It can also be a mixed infection, where several bacteria are behind the infection.
Necrotizing fasciitis may start with a minor skin break.
A life-threatening infection progresses quickly, so it is important to distinguish the symptoms from, for example, rosacea.
Signs of danger are severe pain and severe swelling extending beyond the skin change, numbness of the skin, blistering and severe general symptoms.
The skin may also turn bluish red. A skin change can be deceptively small.
In addition to intravenous antimicrobial therapy, the treatment requires emergency surgery, where all the destroyed tissue is removed. Sometimes amputation may be needed.
Infection can occur in basic health, but the risk is greater if a person has basic diseases. Predisposing factors include diabetes or immunodeficiency.
Source: Terveyskirjasto.fi, Duodecim
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