Autoinflammatory Diseases

Autoimmune inflammatory diseases

Prepared by Dr Mohammed Othman Hamza Ulfat Consultant in Pediatric and Adolescent Rheumatology @DrMohammedOthm3 Autoimmune inflammatory diseases: To understand this type of disease, it is important to know that Almighty God has endowed the human body with two lines of defense against microbes. The first is innate immunity, and the second is adaptive immunity. These diseases result from a dysfunction in the first line of defense. The first line of defense: The innate immune system is represented by immune receptors or sensors on all surfaces of the body's organs. Their role is to capture and contain microbes in preparation for identifying and eliminating them through this highly organised immune system. Glory be to the Creator, whose power is supreme. Any defect in the proteins that make up this system causes it to function irregularly, leading to the release of large quantities of substances called cytokines, such as interleukin-1, interleukin-6 and interferon. These cause autoinflammation in the membranes surrounding most of the body's organs, with clinical symptoms appearing according to the location of the genetic defect that caused the deficiency in the responsible protein. These diseases share a pattern in which the child experiences recurring fever accompanied by other symptoms that distinguish each disease from the others. Definition of recurrent fever: Recurrent episodes of fever occurring at least three times during the six months following the first episode, with at least seven days between episodes. The child must be completely well on days when no fever is present. What are these diseases? These are a group of diseases that occur in children as a result of inherited abnormalities in the genetic code. They cause specific clinical symptoms depending on the type and location of the genetic defect in the natural immune system described above. This leads to several different diseases, each with clinical symptoms that distinguish it from the others. All patients experience recurring fever accompanied by other symptoms that vary according to the type of autoinflammatory disease. Causes: Genetic abnormalities in the gene structure responsible for producing a protein within the innate immune system's first-line defence mechanism described above. The genetic mutation affects the production and function of one of these proteins. This, in turn, triggers the inflammatory process and allows stimuli that do not cause inflammation in a healthy child to provoke inflammation in an affected child, resulting in fever and the other symptoms associated with the disease. Examples of autoimmune inflammatory diseases: 1. Familial Mediterranean Fever: It affects families from Mediterranean regions such as Egypt, Syria, and Türkiye. It is an autosomal recessive genetic disorder passed from parents to children, with the probability of developing the condition reaching 25%. Symptoms include a periodic fever approximately every 28 days that lasts no more than three days, accompanied by abdominal or chest pain and a red, burning rash around the ankle. 2. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): It is an autosomal dominant hereditary disease that can be passed to children, with a newborn's risk of inheriting it reaching 50%. Symptoms appear as irregular monthly episodes of fever that may last more than a week, accompanied by swelling around the eyes, a migratory skin rash, and other symptoms. 3. Cryopyrin-Associated Periodic Syndromes (CAPS): There are three types, each with its own distinguishing features, although all are autosomal dominant hereditary diseases, as noted in paragraph 2. Symptoms begin early, around the first year of life, with recurrent episodes of fever lasting no more than 48 hours. The fever is accompanied by an urticaria-like skin rash and redness of the eyes. The patient may also develop hearing loss and other symptoms. 4. Hyperimmunoglobulin D Syndrome (HIDS) It is an autosomal recessive hereditary disease whose symptoms begin in childhood as recurrent periodic fever every six to eight weeks. The fever lasts three to seven days and may be accompanied by abdominal pain, vomiting, diarrhea, skin rash, and enlarged lymph nodes in the upper neck. 5. PFAPA periodic fever syndrome: It is also known as periodic fever syndrome and is accompanied by painful mouth ulcers, as well as throat inflammation and enlarged lymph nodes in the upper neck. The condition affects children around the age of five and is not hereditary. It is often misdiagnosed as a sore throat or tonsillitis. The fever recurs periodically, approximately once a month, and usually lasts five days. 6. Many other conditions are diagnosed by pediatric rheumatologists. Diagnosis: Diagnosis is based primarily on clinical symptoms and is confirmed through genetic testing of the gene sequence. 7. Treatment methods Patients should be referred to paediatric rheumatologists to treat such diseases. The specialist will determine the appropriate treatment based on the child's condition. Medicines used include the following: · Colchicine It is a lifelong preventive treatment and the preferred therapy for patients with familial Mediterranean fever. · medicines that suppress the IL-1β cytokine, such as anakinra or rilonacept. · Medications that inhibit inflammatory cytokines Tumour necrosis factor inhibitors, such as etanercept · There are other medicines They may be used to lessen the severity of some of these diseases, including cortisone or other medicines such as non-steroidal anti-inflammatory drugs How long do these diseases last, and can they be completely cured? These hereditary diseases persist throughout life and cannot be cured. However, scientific advances have made promising medicines available for their treatment under the care of paediatric rheumatology specialists. Scientific research continues to seek a treatment approach that ensures long-term disease control or perhaps a complete cure, God willing.