Systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS)

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.