Health, Oslo University Hospital | Genetic research on zebrafish revealed serious diseases that can only affect males
– We have no curative treatment, says the doctor who so far has proven the disease in five Norwegian men.
The serious disease has only been detected in humans and is due to mutations in a gene as an important biological processes. Why it happens, vet does not. They also do not have any curative treatment, and the disease can be fatal.
The disease has been named VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). The syndrome is referred to in Norwegian as «serious inflammatory disease in adults».
– We heard about this for the first time in November 2020, and we have so far proven the disease in five patients at Oslo University Hospital (OUS), says Øyvind Midtvedt, chief physician at the rheumatology section, to Nettavisen.
The first patient passed away, and it was only after his death that the doctors linked his disease state to the newly discovered syndrome.
-We understood from what we had read in professional journals that this could be the VEXAS syndrome. We contacted the spouse of the deceased and were given permission to do genetic testing. This is a disease that I can fight through genetic analysis, and analyze, which is available in Norway. For the doctors who treated the patient for many years and not least for the relatives, it was a relief that one could finally make a correct diagnosis, he explains.
Affects middle-aged men
It seems that middle-aged men are at risk. The disease causes symptoms such as decreased general condition, episodes of fever, inflammation of the nasal or ear cartilage (chondritis), they may have a rash and they may have changes in the lungs. Low blood percentage, blood clots, high blood pressure and high CPR as signs of severe inflammation are also hallmarks.
– The disease is not congenital and it is not contagious. We do not know the risk factors. The syndrome is rare but probably underdiagnosed due to lack of knowledge of the condition.
We treat symptoms with cortisone and anti-inflammatory medication, says Midtvedt and says Norwegian doctors have had a dialogue with foreign expertise in the field.
– Since these are changes in a gene, we have no curative treatment. We have not come this far, but developed with faster and cheaper gene sequencing is helpful in diagnosing the disease, he says.
Researched on zebrafish
Midtvedt says that the American researchers who first appeared on Viste VEXAS syndrome began by looking at a patient register with unclear inflammatory diseases. Then they found a common denominator, a mutation, that is, a change in a gene (UBA1 gene). The gene abnormality causes a disruption in a central biological process, which in turn can lead to severe inflammation. In an experiment where they genetically engineered zebrafish, they managed to cause disease in fish.
Thus, I was able to give a description of morbid symptoms and that it may cause mutation in the current gene. The gene is located in the X chromosome, which men only have one of. That is why men are more vulnerable to this disease.
– The fact that we see that changes in a gene give pictures of inflammatory syndromes is an interesting finding and should be opened up for more research, Midtvedt says to Nettavisen.
Also proven in Denmark
Two doctors at Rigshospitalet in Denmark have recently passed and told that they have been able to detect the disease in five patients of a group of 1000 with hitherto unexplained symptoms.
The Danish doctors found the same genetic mutations, hematological and rheumatological symptoms in the patients in question. Fever, blood clots and inflammation of cartilage, lung tissue and blood vessels are also common denominators, the website reported Health Policy Journal in his discussion of the case earlier this autumn.