Patients with Sjögren's Syndrome often have other conditions related to anomalous functioning of the immune system, such as systemic lupus erythematosus, scleroderma and rheumatoid arthritis.

Symptoms

Patients with Sjögren's Syndrome mainly have symptoms related to a lack of tear and saliva production, which causes dryness in the mouth and eyes. The main symptoms suffered by patients are a burning, gritty sensation in the eyes, red eyes, blurred vision, the need to drink water frequently, difficulty swallowing dry food and a higher propensity for tooth decay and mouth infections. This dryness may also affect the skin and vaginal area, which causes painful sexual relationships. Other symptoms that Sjögren's Syndrome patients may show are joint or muscle pain and fatigue. Less frequently, other organs, such as the lungs, kidney and nerve endings, may be affected.

Who is affected by the condition?

Above all, the disease affects women aged between 40 and 60. It is calculated that the incidence is between 0.5% and 3% of the population.

How is it diagnosed?

There is no single test enabling diagnosis of Sjögren's Syndrome.  Diagnosing Sjögren's Syndrome in a patient referred with dry eyes and mouth is based on tests that confirm the existence of a deficit in tear and saliva production and that prove that the dryness is associated with an imbalance in the immune system.

Standard treatment

Treatment of Sjögren's Syndrome is essentially based on measures that alleviate the feeling of dryness shown by the patient. The treatment includes the use of artificial tears, eye gels, eye drops, nebulisers and tablets to stimulate saliva production. Particular patients may be given treatment to stimulate glandular secretion. In serious cases, where there are symptoms in organs other than the glands (lungs and peripheral nerves, etc) it may be necessary to administer medication that acts to decrease immune system activity (immunosuppressant drugs).

Standard tests

Patients with Sjögren's Syndrome must undergo a series of eye tests, blood and urine tests and, on certain occasions, it is necessary to do a small biopsy of lip mucous to confirm the existence of inflammation in the glands producing saliva.

Symptoms

The most common presentation of these illnesses is muscular weakness, which usually has a characteristic effect on the proximal skeletal muscles, that is to say, on the shoulder and hip girdles, which makes activities needing these muscles to work normally difficult, such as hanging out laundry, combing hair, going up stairs or getting up from a chair. Skin manifestations are characteristic in dermatomyositis and we can identify a wide range of lesions. The majority of them have a certain photosensitivity component which means they usually appear in areas exposed to the sun. Lilac-coloured or heliotrope palpebral oedema are considered to be pathognomic, as are Gottron's papules, which appear on the knuckles of the hands. Similar lesions can be seen in the extension areas, such as elbows and knees, and also on the hair line on the scalp and nape of the neck. Other cutaneous lesions, which are V-shaped on the neckline or shawl-shaped on the back, are also related to the stimulation of the sun.

The most well-known respiratory infection in patients with dermatomyositis and polymyositis is interstitial lung disease. In general, its inception is usually sub-acute or chronic and the clinical findings during the examination can detect dry, crackling rales, in “velcro”, which are characteristic of pulmonary fibrosis. Cardiac and digestive involvement is infrequent and should be assessed in each patient individually.

Who is affected by the condition?

Inflammatory myopathies can be considered to be within the rare disease group due to their low incidence. Epidemiological studies carried out around the world set out an average annual incidence of 2.1 to 7.7 new cases for every million inhabitants per year.

It is considered to be a universally distributed disease, although it is a little more prevalent in Caucasians and less frequent in black people. It is twice as frequent in women than men. In addition, although a juvenile form exists that usually appears before the age of 16, signs of the illness are more frequent in 30 to 40 year olds.

Diagnosis

The diagnosis is made using the convergence of clinical criteria. The most relevant finding in blood tests is elevated muscular enzymes, such as creatine kinase and aldolase, along with acute phase reactors such as the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). Muscular biopsy is, for some authors, the benchmark test for diagnosing inflammatory myopathies.

In the case of dermatomyositis and, in general, inflammatory myopathies, there are a series of antibodies that help the clinician to classify the disease. Anti-Jo-1, anti-PL-7, anti-PL-12, anti-U1 and anti-PM-Scl, etc, stand out amongst these antibodies. Another complementary test enabling assessment of the extent of the adverse effect on muscles is the nuclear magnetic resonance which, in turn, is valuable when monitoring progress. Depending on whether there is pulmonary, cardiac or digestive involvement, the extra examinations needed to assess each affected organ will be carried out.

Standard treatment

Treatment of inflammatory myopathies is based on administering glucocorticoids and immunosuppressants, without forgetting physical therapy or rehabilitation, even in the acute phase. A third of patients respond to a single glucocorticoid treatment, but the majority need the addition of a new immunosuppressant, such as disease modifying drugs, including methotrexate, ciclosporin, cyclophosphamide, azathioprine, mofetil mycophenolate and tacrolimus. Intravenous immunoglobulins may also be used as they act to improve muscle weakness. Biological therapies, such as etanercept, infliximab and rituximab, have been shown to be effective in some clinical cases or observational studies. In any event, the treatment must be individual for each patient.

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.