Definition
RELA is the name of a gene present in all our cells. This gene plays an important role in the functioning of the immune system, which protects us against infection and helps control inflammation. RELA is involved in a process known as the NF-kB pathway, an essential mechanism for responding to aggressions such as infection, injury or cellular stress.
However, mutations in the RELA gene can disrupt its function and cause rare diseases. These diseases can manifest as immune and inflammatory problems.
Genetic
Mutations in RELA can cause abnormalities in the regulation of inflammation. Rather than stopping when the danger has passed, inflammation can become excessive or persistent. This can lead to tissue damage and cause a variety of symptoms, which differ from person to person. Here are the main effects:
- Chronic inflammation: The body remains in a state of alert, even in the absence of threat.
- Skin problems: Skin rashes, redness or lesions may appear.
- Neurological problems: Some people experience severe headaches, visual disturbances or other problems affecting the central nervous system.
- Digestive system disorders: Abdominal pain, diarrhea or inflammation of the digestive organs may occur.
Clinical
Symptoms of RELA-related illnesses may include:
- Recurrent or persistent fever
- Joint or muscle pain
- Chronic fatigue
- Skin manifestations (redness, patches, ulcers)
- Neurological signs, such as migraines or loss of vision
It's important to note that symptoms can vary from patient to patient, and can appear at any age.
Diagnostic
Diagnosis is based on several stages:
1. Symptom analysis: The doctor assesses the clinical signs and their evolution.
2. Biological examinations: Blood tests detect inflammation markers.
3. Genetic analysis: To confirm the presence of a mutation in the RELA gene.
4. Complementary examinations: CT scan, MRI or biopsy to evaluate affected organs.
Early diagnosis is essential for appropriate treatment.
Evolution
Diseases linked to RELA mutations are rare and complex, but appropriate management can help manage symptoms and prevent complications.
Treatment
There is no cure for RELA-related diseases, but options exist to manage symptoms and limit complications:
- Anti-inflammatories: Reduce inflammation and relieve pain.
- Immunosuppressants: These drugs curb an excessive immune response.
- Biotherapies: Some treatments target specific mechanisms of inflammation.
- Multidisciplinary support: A team of specialists (dermatologists, neurologists, gastroenterologists) can optimize management.
Despite the difficulties associated with this disease, it is possible to improve quality of life by following a few tips:
Regular medical follow-up: Maintain close contact with your doctor to monitor the progress of the disease.
Adopt a healthy lifestyle: A balanced diet, appropriate physical activity and good stress management can help.
Join support groups: Sharing your experience with other patients can be beneficial.
Living with illness
Despite the difficulties associated with this disease, it is possible to improve quality of life by following a few tips:
Regular medical check-ups: Maintain close contact with your doctor to monitor the progress of the disease.
Adopt a healthy lifestyle: A balanced diet, appropriate physical activity and good stress management can help.
Join support groups: Sharing your experience with other patients can be beneficial.
If you have symptoms or a family history of this disease, you can consult the CEREMAIA at Tenon. With the support of our expert team, you can better understand and control this rare disease.