VEXAS is known as a condition that causes inflammation and hemorrhagic symptoms in the human body. This syndrome is caused by mutations in the UBA1 gene found in blood cells, which occur in the late stages of life. This means that people infected with the disease cannot transmit the disease to their children. Let's discuss Dalili Medical, of Fixes disease, which has been making headlines recently, and give you a comprehensive report about the truth of its publication in the Arab Republic of Egypt.

. What are the symptoms associated with Fixas syndrome?

It includes febrile symptoms, skin rash, and respiratory problems.

What is the cause of Fixas syndrome?

This syndrome results from mutations in the UBA1 gene, which affects the function of the immune system.

. How to diagnose Fixas syndrome?

The diagnosis is made during clinical evaluation and genetic tests.

. What are the management strategies for Fixas syndrome?

Treatment methods may include the use of immunosuppressants and supportive care.

What are the long-term effects of Fixas syndrome?

Height includes the long-term effects of chronic inflammation and complications that affect different organs of the body.

**What is Fixas syndrome?**

Fixas syndrome (Fajwat, E1 enzyme, linked to chromosome X, spontaneous inflammation, somatic) is a recently discovered anxiety disorder that mainly affects middle-aged men. This syndrome is caused by somatic mutations in the UBA1 gene, which plays a vital role in encoding the enzyme necessary for the ubiquitin process, which is a basic process for protein degradation and regulation. These mutations lead to a disturbance in the regulation of immunity, which causes systemic inflammation and symptoms related to dysplasia.

**What do we mean by the name Fixas?**

The name "Fixas" consists of the first letters of the characteristics associated with this disorder, namely:

- **Vacuoles** in blood cells (V).

- **Enzyme E1** is necessary for body function and continuity (E).

- **X chromosome** which contains the mutated gene UBA1 (X).

- **Autoinflammatory**, which refers to problems in the response of the immune system (A).

- Somatic mutations that are acquired during life and not inherited (S).

Am I also a person prone to Fixas syndrome?

Men are also the most susceptible to Fixas syndrome, and they develop the disease in the later periods of their lives due to the presence of a genetic mutation, so about 13,200 men and 2,300 women in the United States of America have this syndrome, according to a new study. This shows that the disease can affect women, and not only men, but it is more common among men, and the majority of injuries were among men at a rate twice as high as among women, according to our studies.

How was it discovered?

The theme of the discovery of Fixas disease during the search for genetic genetic variants that have been registered in more than 2500 patients suffering from inflammation throughout the body, or other unusual and undiagnosed conditions.

The gene that was identified is UBA1, and it is located on the sex chromosome X, and all the 25 people who were initially diagnosed with Fixas disease were males, because men have only one X chromosome, so they have only one copy. I am this heir

While women have two X chromosomes, therefore, their copies inherit UBA1, so it is possible that the mutation occurs in only one copy, so the disease is less severe, or the disease does not occur at all. Al-Jiniyah changes that cause this disease after birth, so it does not pass from parents to children.

What are the causes of Fixas disease?

The cause of Fixas disease is mainly due to mutation in the UBA1 gene, which is found in some immune cells and cells responsible for blood production in the bone marrow. Scientists discovered this genetic mutation in myeloid cells, which are a type of white blood cells that play a role in the immune response and inflammation. It is believed that these cells are excessively activated, which leads to the appearance of inflammatory symptoms.

**Fixas disease affects men**

Fixas disease affects men more, especially those over the age of 50. This disease is related to genetic mutations in the UBA1 gene, which leads to the concentration of cellular waste, stimulating the immune system to attack healthy tissues.

*** Possible complications of VEXAS ***

If Fixas disease is not treated, it may cause serious complications, including:

- Spinal cord failure.

- Blood cancer.

- Myocarditis.

- Inflammation of the skin and joints.

- Vascular inflammation

**Diagnosis of Fixas syndrome**

**Clinical evaluation** Comprehensive clinical evaluation is very important. The presence of unexplained hematological abnormalities, in addition to systemic inflammation and certain skin or pulmonary symptoms, can raise doubts about Fixas syndrome.

**Genetic tests** The final diagnosis depends on performing genetic tests to determine UBA1 mutations. This includes sequencing of the UBA1 gene from blood samples to detect somatic mutations.

**Bone marrow examination** Bone marrow biopsy is a useful tool to detect gaps in myeloid progenitor cells and erythrocytes, which provides additional confirmation of the diagnosis.

**Symptoms of Fixas syndrome**

**Anemia of blood** means the illness of Fixas syndrome, mostly anemia and platelet deficiency as a result of affecting the bone marrow. Most of the time, these blood disorders are accompanied by the presence of gaps inside the medullary cells and red blood cells, which indicates the existence of a disorder.

**Systemic inflammatory symptoms** Systemic inflammation is one of the main characteristics of VEXAS syndrome. The height of the suffering of my patients is fever, exhaustion, and weight loss. In addition, my condition can appear during frequent bouts of pericarditis, pleurisy, or arthritis, which increases the complexity of the clinical picture.

**Skin and lung disease** Skin symptoms such as skin rash or ulcers are common and have healed.ten. Pulmonary infection can also appear in the form of nasal pulmonary disease, which usually requires careful management.

1. Low blood oxygen levels.

2. Rash.

3. Alhami.

4. Headache.

5. Eye redness.

6. Al-Saal.

7. Shortness of breath.

8. Tissue swelling.

9. Joint pain.

**How ​​does the immune system work in case of VEXAS disease?**

In the case of VEXAS disease, a malfunction occurs in the immune system, which causes it to attack healthy tissues by mistake. This unexplained attack causes inflammation in different areas of the body, including the skin, joints, blood vessels, and even internal organs such as the lungs. In normal conditions, the immune system protects the body from microbes and external factors, but in the case of VEXAS disease, the body makes a mistake in determining the targets and starts attacking its healthy tissues.

**Can VEXAS disease be prevented?**

Since VEXAS disease is caused by genetic mutations occurring randomly in the UBA1 gene, it cannot be prevented. No medical or biological methods can prevent the occurrence of these mutations. Therefore, prevention of the disease remains impossible, which highlights the importance of early diagnosis and continuous follow-up before doctors. The earlier the disease is detected, the more chances to improve the symptoms and reduce the effects on daily life.

**Is VEXAS stomach disease?**

VEXAS disease is not an infectious disease, as it is not inherited. The theme of first recognition in 2020 is before the National Institute of Health in the United States

How does VEXAS disease affect the daily life of patients?

VEXAS disease can have a great impact on the daily life of patients, as they suffer from chronic symptoms such as severe pain, constant fatigue, and shortness of breath. Patients also face difficulty in normal movement due to arthritis and skin inflammation. In addition, continuous treatment may lead to side effects such as weight gain due to immune-suppressing drugs, or exposure of patients to other health problems due to the effect of the disease on the immune system. All these factors make the management of the disease complex and require constant medical care.

Is there progress in VEXAS disease research?

Scientific research continues on VEXAS disease, where scientists try to find more effective ways to treat this rare disease. In the future, potential treatments include alginic therapy, which can help correct genetic mutations in the UBA1 gene. Interest in developing new treatments, such as the use of stem cells or advanced immunotherapy, has also increased, which may contribute to improving the functions of the immune system and stopping the inflammation caused by the disease.

**How ​​can Egypt deal with the discovery of VEXAS disease?**

With the discovery of the first case of VEXAS disease in Egypt, Taborz has an important opportunity to sensitize the medical community on the importance of diagnosing this rare disease. Egypt can take a leadership role in the scientific research related to VEXAS disease through the establishment of specialized discussion centers focusing on the study of this disease. It is also possible to increase public awareness about the symptoms and factors that may lead to infection.

**Treatment of VEXAS disease**

So far, there is no specific treatment for VEXAS disease, but anti-inflammatory drugs are generally used to reduce the symptoms, and immunosuppressive drugs to reduce the vitality of the immune system. It is also important to focus on physical therapy and psychological support for patients, which contributes to early detection and improving the management of their health in the future.

The remedy is still in the experimental stage and mainly focuses on:

- Al-Jarhari treatment

- Immunosuppressants: which are used to reduce inflammation and improve symptoms.

However, due to the rarity of the disease, research on advanced treatment options is still ongoing, which calls for more studies to better understand the disease and develop more effective treatments.