Periodic disease

Periodic Disease: Understanding and Treatment

Periodic disease, also known as Armenian disease, familial periodic disease or Janeway syndrome, is a rare inherited disease characterized by recurrent episodes of inflammation that manifest as severe joint pain, fever and other symptoms. This disease gets its name due to the periodic nature of the episodes that can occur at regular intervals.

Although the cause of Periodic Disease is not fully understood, it is believed to be related to genetic changes. Mutations in genes responsible for controlling inflammation in the body can lead to symptoms of the disease. Inheritance of Periodic Disease occurs according to the principle of autosomal dominant inheritance, which means that the risk of developing the disease in children who inherited the mutation from one of the parents is 50%.

Symptoms of Periodic Disease can vary from person to person and may include the following:

1. Acute joint pain, often affecting large joints such as the knees and ankles.
2. Fever, which may be accompanied by headache and general malaise.
3. Swelling of the joints and skin in the affected area.
4. Weakness and fatigue.

Episodes of periodic disease may last several days or weeks, after which they may go away on their own. The time between episodes can also vary from several weeks to several years. Most people with periodic disease experience progression of the disease over time, but in some people the episodes may lessen or disappear as they age.

The diagnosis of periodic disease is based on an extensive review of symptoms, medical history, and exclusion of other possible causes of joint inflammation and pain. Additional tests, such as blood tests for inflammatory markers and genetic testing, may be used to confirm the diagnosis.

Management of periodic disease involves controlling symptoms and preventing complications. Nonsteroidal anti-inflammatory drugs (NSAIDs) can help reduce inflammation and relieve pain during episodes. In some cases, the use of stronger drugs, such as corticosteroids or drugs that modulate the immune system, may be necessary. It is also important to pay attention to the patient's overall health, including a healthy lifestyle, regular physical activity and diet.

Because periodic disease is a chronic disease, patients may require long-term medical monitoring and support. It is important to consult with your doctor regularly and follow treatment recommendations to control symptoms and prevent flare-ups.

Periodic disease can also have an emotional and psychological impact on patients due to chronic pain, limitations in daily life, and uncertainty about possible flare-ups. Psychological support or participation in group support sessions can help patients cope with the emotional aspects of the disease.

Although Periodic Disease is a rare disease, research and development continues to better understand the mechanisms of the disease and develop new approaches to its treatment. New drugs and therapeutic strategies are currently being explored that may provide greater effectiveness and improve the quality of life of patients.

In conclusion, Periodic disease is a rare genetic disorder characterized by periodic episodes of joint inflammation and other symptoms. Diagnosis is based on symptoms and genetic testing, and treatment is aimed at controlling symptoms and preventing flare-ups. Patients require long-term medical monitoring and support, as well as emotional support. Research continues to improve the understanding and treatment of this rare disease.

Family periodic disorder (BPS; periodic family) is a rare genetic disorder characterized by recurrent attacks of sudden, repetitive movements or seizures that can cause serious problems in daily life and family life. Since its discovery in 2013, the disease can only be diagnosed through genetic testing or muscle biopsy.

The disease is hereditarily associated with Jay syndrome. Symptoms can appear at any age, but usually begin in adolescence or a little later. These symptoms include periodic movements such as eye or head twitching, jerking movements, or seizures. They can usually occur several times a day

PERIODIC DISEASE

Periodic disease is a chronic genetically determined hereditary autosomal dominant monogenic disease of the immune system, in which, as a result of mutations, the synthesis or function of one of the key proteins of the immune response is disrupted - the innate receptor for CD4+ lymphocytes interleukin 7 (IL7R-TMD; Thymus-dependent membrane domain ). Diagnostic criteria include a family history (taking into account the incidence in children and adults), characteristic complaints and morphological signs. Among other things, periodic disease is often combined with psoriasis, enteropathy and other manifestations on the skin and mucous membranes. Patients suffering from this disease usually die from chronic infectious diseases, and lymphoproliferative pathologies are diagnosed much more often. Diagnosis, treatment and observation of patients are carried out by specialists in genetics, immunology, dermatology, pediatrics, oncologists, therapists, and surgeons. As part of therapy, it is possible to conduct rehabilitation programs.