Symptoms

SLE can affect almost every organ in the body. The most frequent symptoms are:

• General symptoms: fatigue, tiring easily, weight loss, and fever.
• Pain or inflammation in the joints (fingers, knuckles, elbows, feet, and knees) and joint stiffness that appears in the mornings and improves throughout the day.
• Skin problems. The skin can present different types of lesions; the most typical is that known as the "butterfly rash", which causes redness across the nose and cheeks. These lesions often manifest or worsen when they are in contact with sunlight (ultraviolet light), an effect known as photosensitivity.
• Hair loss.
• Inflammation of the membrane that covers the heart (pericarditis) and/or lungs (pleuritis). Both have similar symptoms: chest pain, trouble breathing, and fever.
• Kidney problems: the most common issue is inflammation (nephritis). It may manifest as the inability to retain important substances such as proteins, and that is why it can trigger fluid retention, with oedema in the legs and face. Other times, it can present as an increase in blood pressure.
• SLE can also affect the brain, although this is very rare. In addition, it can cause headaches, depression, behavioural changes, epilepsy, etc.

The most characteristic clinical manifestations of APS are thrombosis (blood clots) and serial miscarriages.

This thrombosis can trigger deep vein thrombosis in the legs, strokes or brain bleeding, myocardial infarctions, pulmonary thrombosis, ocular thrombosis, etc.

Among the complications that APS may cause during pregnancy, the most common are repeated miscarriages (mostly before week 10 of gestation), although it can also give rise to premature births (before week 34 of gestation).

Apart from the thrombosis and obstetric complications, patients with APS may also present with anaemia, kidney problems, convulsions, arrhythmia, and different kinds of skin lesions.

Who is affected by the disease?

SLE is a disease that predominantly affects women; one man is diagnosed with this illness for every nine women. It can appear at any age, although most cases manifest between 17 and 35 years of age.

What exactly triggers the disease is unknown. It is believed that an infectious agent may initiate the disease, but at the same time, the individual must present genetic and hormonal factors for this to occur.

APS also affects women (60-80%) more than it affects men. It is unknown exactly why there are individuals who test positive for antiphospholipid antibodies but have never had thrombosis or a miscarriage, while others who are positive do have these issues.

Diagnosis

The diagnosis for SLE is clinical and is based on three main aspects: the symptoms the patient reports, the alterations observed on the physical examination, and the results of the blood and urine analysis. There is no single test to diagnose SLE.

There are some abnormalities on a blood test that can make us suspect that a patient may have SLE. It is common for these patients to have a low number of leukocytes, lymphocytes, and/or platelets. We can also detect the presence of antinuclear antibodies (ANAs). Almost 100% of patients with SLE are positive for these, but this does not constitute a diagnosis of the disease, since healthy people or those with other illnesses can test positive.

Diagnosing APS is based on the combination of clinical characteristics mentioned previously (presence of thrombosis or obstetric problems like miscarriages or premature births) and the presence of one or more of the antibodies typically associated with the disease (lupus anticoagulant, cardiolipin antibodies, and anti-beta 2-glycoprotein antibodies).

Typical treatment

There is no single cure for SLE, since treatment will vary for each patient based on the clinical manifestations they present. It is usually a long-term, chronic treatment. Generally speaking, anti-inflammatory agents and corticosteroids are prescribed to treat flares and immunosuppressants (hydroxychloroquine, methotrexate, azathioprine, mycophenolate, etc.) are used, based on the areas/organs affected, to treat and prevent new flare-ups. Currently, we only have one biological pharmaceutical approved for SLE, belimumab, although numerous studies are underway that aim to find new, effective drugs to treat this disease.

Treatment for APS mainly includes the administration of an anti-clotting treatment (aspirin) or anticoagulant, based on the clinical manifestations and antibody profile of the patient. 

Typical tests

The most common diagnostic test used for suspected SLE and APS is the blood analysis, which includes testing for auto-antibodies.

Other studies and tests can also be used, based on the patient's symptoms: urinalysis to evaluate whether the kidney is affected, chest X-rays and echocardiogram when the heart or lungs are involved, renal biopsy if kidney problems are detected, skin biopsy, head CT or MRI if neurological symptoms appear, etc.

Prevention

There is no specific measure we can take to prevent the appearance of SLE and APS.

Once manifested, an early diagnosis is essential for both illnesses in order to begin treatment quickly and thus avoid possible complications. Patients must regularly see and work in close collaboration with their specialists.

In addition, for both SLE and APS, it's very important to strictly control the classic cardiovascular risk factors (high blood pressure, diabetes, dyslipidaemia, obesity, and tobacco use), because they can very negatively affect the prognosis of both diseases.

Untreated rheumatoid arthritis can end up causing a deterioration and deformity of the affected joints, which can cause serious disabilities. However, the early diagnosis we often perform and the quantity of drugs we have available today mean that most patients with rheumatoid arthritis can lead a practically normal life. For rheumatoid arthritis to have a good clinical evolution, an early diagnosis is very important, starting treatment as soon as possible.

This is because the first years during which the illness presents are key for improving the prognosis and evolution of these patients.

Symptoms

The most frequent symptoms are pain and inflammation in the joints. The joints that are most commonly affected are the knuckles of the hands, wrists, and feet, but the illness can also affect any other joint in the body (elbows, shoulders, hips, knees, etc.) and morning stiffness is typically associated with it. The joints of the spinal column are usually not affected, and when this happens it is in the neck area (cervical involvement).

Apart from the symptoms in the joints, rheumatoid arthritis can give rise to other symptoms or affect other organs.

• It can affect a patient's general state, leading to fatigue, weight loss, or mild fever.
• Appearance of nodules called rheumatoid nodules. These are nodules that can appear in the areas surrounding the joints (elbows, fingers, etc.) or, more rarely, on internal organs like the lungs.
• When rheumatoid arthritis affects the lungs, it can do so in different ways. The membrane that surrounds the lungs (pleura) can be affected, as can the lungs themselves (pneumonitis). Pleural involvement is usually mild and produces few symptoms in the patients. Pneumonitis, on the other hand, while quite rare, can be more severe and usually presents as difficulty breathing, shortness of breath, and/or dry cough. Patients who smoke are at a higher risk of rheumatoid arthritis affecting their lungs.
• It's very uncommon for arthritis to affect the heart, but when it does, it can produce an inflammation of the membrane covering the heart (pericarditis) or arrhythmia.
• Finally, when the disease is very severe and not well-controlled, it can also affect the eyes (episcleritis), nerves (mononeuritis), and kidneys.
• Along with rheumatoid arthritis, another disease can occur that produces inflammation in the body's lubrication glands, such as the tear ducts and salivary glands. This illness is called Sjögren's syndrome and it is characterised by the presence of dry eyes (with the sensation of having "sand" in the eyes), dry mouth, vaginal dryness, and dry skin.

In addition, patients with rheumatoid arthritis can present other associated illnesses more often than people without arthritis. They have a higher risk of suffering from osteoporosis (decalcification of the bones) and having cardiovascular problems like myocardial infarction or stroke. This is why in patients with rheumatoid arthritis, it's extremely important to control other factors that may aggravate their condition, such as high cholesterol, diabetes, high blood pressure, tobacco use, and obesity.

Who is affected by the disease?

It can affect any person, of any race, anywhere in the world, but it affects more women than men (approximately three women for every man), and it usually appears between the ages of 40 and 60.

The cause of the disease is unknown. What we do know is that there are different components involved in the appearance of the disease:

1. It is an autoimmune process. This means that in rheumatoid arthritis, the system that normally defends the body from external agents instead attacks the joints and causes them to become inflamed.
2. Genetics can be a predisposing factor. The family members of a person with rheumatoid arthritis have a higher probability of also having it, even though this probability is low.
3. Hormonal involvement. The fact that it occurs more in women than in men makes us think that the hormonal component may be important.
4. Some environmental factors might have an important role in the appearance of the illness. The most well-known factor to date is tobacco use.

Therefore, rheumatoid arthritis appears when a combination of the circumstances described above occurs at the same time. Alterations in the immune system can occur in genetically predisposed individuals and can combine with hormonal and environmental factors. It is not known exactly how this process happens.

Diagnosis

Diagnosing the illness is done in a comprehensive way, considering the symptoms reported by the patient, the physical examination, the results of the analyses, and the X-rays. It is important to keep in mind that there is no blood test or other kind of test that can diagnose rheumatoid arthritis independently; a medical evaluation of the entire situation by a rheumatology specialist will always be required.

The symptoms described by the patient are usually the ones we've described in the "symptoms" section. The physical examination usually reveals pain, inflammation, and a limited range of movement in one or more joints, and this tends to be symmetrical.

On a blood analysis, elevated inflammatory markers are often observed, such as a high erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) level. Mild anaemia can also appear.

Rheumatoid factor (RF) can be tested for on a blood analysis, and 70-80% of patients with rheumatoid arthritis are positive for it. However, it's important to point out that up to 30% of healthy people without arthritis can also turn up positive, so being positive for this factor does not definitively tell us if someone has the disease.

Anti-cyclic citrullinated peptide (anti-CCP) antibody is a more specific biomarker for rheumatoid arthritis. This means that in a person with arthritis, if they are positive for this antibody, it practically confirms the diagnosis. However, if it turns up negative, the illness is not ruled out, since up to 40% of patients with rheumatoid arthritis are negative for this biomarker.

Typical treatment

The fundamental basis for the treatment of this illness is using pharmaceuticals that we call disease-modifying drugs (DMDs). These drugs act on the cells and molecules that participate in the disease process and manage to change its natural course. We divide these into three groups: traditional, biological, and synthetic.

• Traditional DMDs have been the main treatment for rheumatoid arthritis for many years. The most commonly used pharmaceutical is methotrexate, but leflunomide, sulfasalazine, and hydroxychloroquine are also included in this group. These drugs reduce or suppress inflammatory activity caused by the disease and improve patient symptoms. They are slow-acting and a few weeks of treatment are required before they are effective.
• Biological DMDs first appeared in the 2000s and have entailed an important advance in the treatment of arthritis. They are monoclonal antibodies or proteins that block or inhibit a molecule that participates in the arthritis process. As they are proteins they cannot be administered orally—they must be administered intravenously or subcutaneously. In this group, we have adalimumab, etanercept, infliximab, certolizumab, golimumab, anakinra, tocilizumab, sarilumab, abatacept, and rituximab.
• The synthetic DMDs have appeared just recently and their main advantage is that they can be administered in tablets. They are equally effective and act by inhibiting the specific molecules involved in the inflammation cascade seen in arthritis. Among the approved drugs we have tofacitinib, baricitinib, and upadacitinib. In the upcoming months, we will also have filgotinib available.

Besides the DMDs, another important part of treating arthritis is providing the patient with symptomatic relief. We round out treatment plans with pain relievers and conventional anti-inflammatory agents, to work in conjunction with DMDs during disease flare-ups or to provide relief while these agents take effect. They act quickly, but their effects are short-lived and disappear just hours after a dose is taken.

Within this group we also have corticosteroids, which are the most effective pharmaceuticals to quickly control joint inflammation. They can be administered orally or delivered directly to the inflamed joints as injections.

Prevention

Unfortunately, there is no specific action to prevent the appearance of rheumatoid arthritis. Nevertheless, as we know tobacco use to be the only environmental factor that can contribute to the appearance of and a worse prognosis for arthritis, it is recommended that the entire population in general avoid this habit, but this is especially true for patients at risk for arthritis.

Symptoms

The most common symptom is pain in the lower back or buttocks (inflammatory lumbar pain). This pain is characterised by worsening with rest and improving with exercise. It is associated with prolonged morning stiffness, can wake patients up in the night, and it improves with anti-inflammatory medications. It can also affect the peripheral joints; this is most common in psoriatic arthritis, which can manifest as pain and inflammation in the knuckles, wrists, feet, and other joints.

Spondyloarthritis also affects what we call the enthesis, where a tendon inserts into a bone. The most commonly affected entheses are the Achilles tendon and the epicondyles (elbows), although any tendon insertion can be affected.

Finally, these diseases also present with manifestations outside the joints, and these may be the only visible presentation of the illness. These include inflammation of the eye (uveitis), inflammatory intestinal disease (ulcerative colitis or Crohn's disease), or inflammation of the skin (psoriasis). In fact, 30% of patients with psoriasis have psoriatic arthritis and the skin lesions tend to predict the joint disease.

Who is affected by the disease?

Spondyloarthritis can affect anyone, although it usually presents between adolescence and 50 years of age. Axial spondyloarthritis usually manifests before the age of 40, while psoriatic arthritis can start later (between 30 and 50 years of age). These affect women and men equally, even though axial spondyloarthritis is slightly more prevalent in men.

It is quite common for people who have one of these illnesses to have family members with the same disease or another spondyloarthritic condition. That is why it was decided these be grouped together, thinking that they share a common aetiology. Thus, genetics is the main cause of these diseases, with several genes identified; the most prominent is HLA-B27, which can be detected in the laboratory, making diagnosis easier. Other causes, like infectious aetiologies, have been investigated, since in many cases the disease is preceded by an infection that acts as a trigger.

Diagnosis

The diagnosis of the disease is done in a comprehensive way, considering the symptoms the patient complains of, the physical examination, the analytical results, and the imaging (X-ray, ultrasound, MRI) results. It's important to consider that there is no one analysis or other test that can diagnose these diseases by itself; it will always require a specialist in rheumatology to perform a medical evaluation of the situation as a whole.

Since the symptoms they present can be confused with very common conditions (lower back pain) and there is no specific test that can diagnose them unequivocally, it's common for a diagnosis to take up to 10 years. It is routine for patients to visit multiple professionals and specialists (traumatologists, physical therapists, osteopaths, primary care physicians, etc.) before receiving a diagnosis.

Typical treatment

One of the treatment pillars for spondyloarthritis is exercise and physical therapy that targets the joints. The main pharmacological options are anti-inflammatory agents, and in case these do not control the illness, the so-called disease modifying drugs (DMDs) will then be used. Within the DMDs, we use conventional DMDs, like methotrexate and sulfasalazine, and more recently we have begun using biological and synthetic DMDs, which represent an important advance in the treatment of these diseases.

Prevention 

Unfortunately, there is no particular action we know of that can prevent the appearance of spondyloarthritis. Nevertheless, tobacco use is one of the most important factors involved in these diseases and their progression, so avoiding tobacco is recommended. In the case of psoriatic arthritis, the fact that the skin disease often precedes the joint disease offers us a window of opportunity to identify it early and avoid its progression. Biomarkers to be able to identify it before it appears are being researched.

Related departments that treat this condition

• Rheumatology
• Dermatology
• Digestive System
• Ophthalmology

Symptoms

These adverse effects of immunotherapy, called immune-related adverse events (irAE), can manifest in any organ in the body. In rheumatology, the most common effects are joint issues with pain and swelling (arthritis) and inflammation in the muscles in the form of myositis. Other presentations include dry eye syndrome (dry eyes with a feeling of having "sand" in them), inflammation of vessels (vasculitis), or even kidney problems (nephritis).

Who is affected by the disease?

These effects can occur in any patient being treated with immunotherapy, but it is more commonly seen in relation to the medications nivolumab, pembrolizumab, and ipilimumab. Diagnosing it requires an evaluation by a rheumatologist, who will take the symptoms into account, along with the analytical and imaging results, to make a more precise diagnosis.

Typical treatment

Treatment is complex, as the immunotherapy must be continued due to the cancer. The oncologist and rheumatologist must carry out a joint evaluation to decide on the best treatment. The most commonly used treatments are anti-inflammatory agents and glucocorticoids, although in more severe cases, treatment with biological drugs (such as TNF-alpha inhibitors) can be considered.