Rheumatic disorders refer to a group of conditions that affect the joints, muscles, and bones. The term “rheumatism” is sometimes used synonymously with rheumatic disorders, although it is an outdated term that does not accurately describe the diverse range of conditions that fall under the category of rheumatic disorders.

Rheumatic disorders can be classified into several subcategories, including inflammatory disorders (such as rheumatoid arthritis and psoriatic arthritis), degenerative disorders (such as osteoarthritis), and connective tissue disorders (such as lupus and scleroderma).

Chronic systemic disorders refer to conditions that affect multiple organ systems in the body and have a long-term, persistent course. Rheumatic disorders are one type of chronic systemic disorder, but they differ from other types of chronic systemic disorders (such as diabetes or heart disease) in that they primarily affect the musculoskeletal system.

Relapse and reactivation, or abruption, refer to the recurrence of symptoms in a patient who has previously experienced remission from their rheumatic disease. Relapse occurs when symptoms return after a period of remission, while reactivation or abruption refers to a sudden and severe recurrence of symptoms.

There are many triggers of rheumatic disorders, including genetic factors, environmental factors (such as infections or exposure to certain toxins), and lifestyle factors (such as diet and exercise). Stress and hormonal changes may also play a role in triggering rheumatic disease symptoms.

There is no one specific genetic factor that triggers rheumatic disorders, as different types of rheumatic disorders may have different genetic factors that contribute to their development. However, research has shown that certain genetic variations can increase the risk of developing rheumatic disorders, such as variations in the HLA genes that are associated with an increased risk of developing rheumatoid arthritis.

Several viruses and infections have been associated with triggering or exacerbating rheumatic disorders, including the Epstein-Barr virus, Parvovirus B19, Hepatitis B and C, and Lyme disease. These infections may trigger an autoimmune response, leading to the development of rheumatic disease symptoms.

There is no specific food or diet that has been definitively proven to trigger rheumatic disorders. However, some studies suggest that certain foods may exacerbate symptoms in some individuals, such as high-purine foods (such as red meat and shellfish) in individuals with gout, or gluten-containing foods in individuals with celiac disease or gluten sensitivity. It is important to note that dietary triggers may vary from person to person, and individuals with rheumatic disorders should work with their healthcare provider or a registered dietitian to determine which foods may be problematic for them.

The HLA-DRB1 gene is the most well-known gene associated with an increased risk of developing rheumatoid arthritis (RA). Specifically, certain variations in the HLA-DRB1 gene, known as shared epitope alleles, have been shown to increase the risk of developing RA. The shared epitope is a small sequence of amino acids within the HLA-DRB1 gene that is present in several different HLA-DRB1 alleles.

The presence of one or more copies of the shared epitope is associated with an increased risk of developing RA, as well as more severe disease and the development of autoantibodies such as rheumatoid factor and anti-citrullinated protein antibodies (ACPAs). However, it is important to note that not all individuals with shared epitope alleles develop RA, and not all individuals with RA have shared epitope alleles. The role of other genetic and environmental factors in the development of RA is an active area of research

The symptoms of rheumatic diseases can vary widely depending on the specific condition and the individual affected. However, some of the most common symptoms of rheumatic diseases include:

1. Joint pain: Pain in one or more joints is a common symptom of many rheumatic diseases, including osteoarthritis, rheumatoid arthritis, and gout.
2. Stiffness: Stiffness in the joints, especially in the morning or after a period of inactivity, is another common symptom of many rheumatic diseases.
3. Swelling: Swelling or inflammation in the joints or surrounding tissues is another common symptom, especially in inflammatory types of rheumatic disease such as rheumatoid arthritis or lupus.
4. Fatigue: Many people with rheumatic diseases experience fatigue, which can be caused by a combination of factors including pain, inflammation, and the impact of the disease on sleep.
5. Muscle weakness: Some rheumatic diseases, such as polymyositis or dermatomyositis, can cause muscle weakness or loss of muscle mass.
6. Skin changes: Some rheumatic diseases, such as lupus or scleroderma, can cause changes in the skin, including rashes, thickening, or discoloration.
7. Fever: A fever may be present in some rheumatic diseases, especially in those with an inflammatory component.

It is important to note that many rheumatic diseases can cause a wide range of symptoms beyond those listed here, and that the severity and duration of symptoms can vary widely between individuals. If you are experiencing any symptoms that concern you, it is important to speak with your healthcare provider for a proper evaluation and diagnosis

Suspecting a rheumatic disease can be challenging, as the symptoms can be similar to those of many other conditions. However, some signs that may suggest the presence of a rheumatic disease include joint pain or stiffness that lasts for more than a few weeks, joint swelling or redness, fatigue, or unexplained fever.

Some rheumatic diseases may also be associated with specific symptoms, such as the development of a butterfly rash on the face in lupus, or the presence of tophi (hard deposits of uric acid crystals) in gout.

It is important to note that the presence of these symptoms does not necessarily mean that a person has a rheumatic disease, as many conditions can cause similar symptoms. A healthcare provider will typically perform a thorough evaluation, including a physical exam, blood tests, and imaging studies, to determine the cause of a person’s symptoms.

The prevalence of rheumatic diseases varies widely between countries and regions. Some research suggests that certain populations may have a higher prevalence of specific rheumatic diseases, such as a higher incidence of rheumatoid arthritis in North America and Europe, or a higher incidence of systemic lupus erythematosus in African American and Hispanic populations.

There is no specific diet or food that has been definitively shown to increase the risk of rheumatic diseases. However, some studies suggest that a diet high in processed or fried foods, red meat, and refined carbohydrates may be associated with an increased risk of developing certain rheumatic diseases, such as rheumatoid arthritis or gout. On the other hand, a diet high in fruits, vegetables, whole grains, and lean protein sources may be associated with a reduced risk of rheumatic diseases. It is important to note that dietary factors may interact with other genetic and environmental factors to influence the development of rheumatic diseases, and further research is needed to fully understand the role of diet in the development and management of these conditions

Rheumatoid factor (RF) is an antibody that is produced by the immune system in people with rheumatoid arthritis (RA). RF binds to other antibodies in the body, forming immune complexes that can contribute to inflammation and joint damage.

The prevalence of RF positivity in different populations can vary widely. In general, RF positivity is more common in people of European descent compared to other populations. Within the Greek and Jewish populations specifically, the prevalence of RF positivity is not well-established and may vary depending on the specific subgroup being studied.

There are several theories about why people living around the Mediterranean basin may be more affected by rheumatic diseases compared to other populations worldwide. One theory is that the high prevalence of specific HLA genes in this region may increase the risk of developing rheumatic diseases. Additionally, environmental factors such as diet, infectious agents, and exposure to ultraviolet radiation may also play a role in the development of rheumatic diseases in this region. Further research is needed to fully understand the complex interactions between genetics, environment, and disease risk in different populations

Diagnosing rheumatic disorders can be complex, as there are many different types of rheumatic diseases, and symptoms can vary widely between individuals. Here are some general steps that a healthcare provider may take to diagnose a rheumatic disorder:

1. Medical history: A healthcare provider will typically ask about the individual’s symptoms, medical history, and family history of rheumatic diseases.
2. Physical exam: A healthcare provider may perform a physical exam to assess joint function, range of motion, and any visible signs of inflammation or deformity.
3. Laboratory tests: Blood tests can be used to detect markers of inflammation, such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). Tests for specific antibodies, such as rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP) antibodies, can also help diagnose certain rheumatic diseases.
4. Imaging tests: Imaging tests such as X-rays, ultrasound, and MRI can be used to assess joint damage and inflammation.
5. Consultation with a rheumatologist: In cases where a rheumatic disorder is suspected, a healthcare provider may refer the individual to a rheumatologist, who is a specialist in the diagnosis and treatment of rheumatic diseases.

It is important to note that diagnosing a rheumatic disorder can be complex, and may require multiple tests and consultations with specialists. Additionally, some rheumatic diseases can have similar symptoms, and it may take time to accurately diagnose the specific type of rheumatic disease.

There are several novel therapies for rheumatic diseases that are currently undergoing clinical trials or have been approved for use. Here are some examples:

1. Janus kinase (JAK) inhibitors: These drugs block specific enzymes in the body that are involved in inflammation, and are used to treat rheumatoid arthritis, psoriatic arthritis, and other inflammatory conditions.
2. Biologic therapies: These are a type of medication that are made from living cells and target specific molecules involved in the immune response. Biologic therapies are used to treat a range of rheumatic diseases, including rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis, and lupus.
3. Gene therapy: This is an emerging field that aims to treat rheumatic diseases by modifying or replacing genes that are involved in the development of the disease. Gene therapy is currently being investigated as a potential treatment for rheumatoid arthritis.
4. Stem cell therapy: This involves using stem cells, which are cells that have the ability to develop into different types of cells in the body, to treat rheumatic diseases. Stem cell therapy is being investigated as a potential treatment for rheumatoid arthritis, systemic lupus erythematosus, and other rheumatic diseases.
5. Small molecule inhibitors: These are a type of medication that target specific molecules involved in the immune response. Small molecule inhibitors are being investigated as a potential treatment for rheumatoid arthritis, psoriatic arthritis, and other inflammatory conditions.

It is important to note that these therapies are still in the early stages of development or are only approved for certain types of rheumatic diseases, and may not be appropriate for all individuals.

Commonly used Janus kinase (JAK) inhibitors:

1. Tofacitinib (Xeljanz): This JAK inhibitor is approved for the treatment of rheumatoid arthritis and psoriatic arthritis.
2. Baricitinib (Olumiant): This JAK inhibitor is approved for the treatment of rheumatoid arthritis and recently received FDA approval for the treatment of moderate to severe atopic dermatitis.
3. Upadacitinib (Rinvoq): This JAK inhibitor is approved for the treatment of rheumatoid arthritis.
4. Filgotinib (Jyseleca): This JAK inhibitor is approved for the treatment of rheumatoid arthritis and recently received FDA approval for the treatment of moderate to severe ulcerative colitis.
5. Peficitinib: This JAK inhibitor is approved for the treatment of rheumatoid arthritis in Japan and South Korea.

It is important to note that JAK inhibitors are prescription medications that should only be used under the guidance of a healthcare provider. While JAK inhibitors can be effective in treating certain rheumatic diseases, they may also have potential side effects and risks. It is important to discuss the risks and benefits of JAK inhibitors with a healthcare provider before starting treatment

Verified by: Rami Diab (May 6, 2023)

Citation: Rami Diab. (May 6, 2023). Rheumatic Disorders Overview, Triggers, Novel Therapies. Medcoi Journal of Medicine, 5(2). urn:medcoi:article22298.