Sjögren's Syndrome is a chronic, systemic autoimmune disease, the cause of which is unknown. Its main symptoms are a dry mouth (xerostomia) and dry eyes (xerophthalmia). In this disease, the cells making up our defence system (immune system) attack parts of the body itself, such as the glands that keep the eyes and mouth moist, and glands in other parts of the body, altering their function. Symptoms in other organs, such as the lungs, joints or nervous system, may also occur.

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 symptoms usually begin with symmetrical pain in the shoulders, and difficulty raising the arms and doing everyday tasks like combing hair or washing. If it affects the hips, the patient usually has difficulty getting up from a chair without using their hands. Less frequently, it may affect the neck and lower back. Pain and rigidity are more intense after long periods of rest, such as getting up in the morning.

Everyday activities such as getting up from a chair or the toilet, turning over in bed, combing hair or getting dressed become difficult and, in many cases, help is needed.

On some occasions it is accompanied by other, less specific symptoms, such as fever, loss of appetite or weight loss. All these changes usually appear in a relatively short space of time, either within a few weeks or months.

Who is affected by the condition?

Rheumatic polymyalgia typically appears in over 50 year-olds. 50 out of every 100,000 people over this age suffer from it each year. It is twice as common in women than in men and is most frequent in white people.

The exact cause is unknown. Its appearance in the elderly leads to thought of some factor (unknown) linked to ageing, along with genetic factors and anomalies in the individual’s immune system.

With regard to genetic factors, it is known that familial aggregation exists. That is to say, it is more frequent in members of the same family.

Diagnosis

There is no single test to diagnose this disease. The diagnosis is reached using the combination of the symptoms, physical examination by the rheumatologist and blood test results, where all this is presented in people over 50.

The most significant discovery in the blood test is the increase in ESR, which occurs in the majority of patients. It is worth pointing out that this change in the blood is not specific to this disease as it is elevated in any inflammatory or infectious process occurring in the body. In general, ESR is considered normal up to 15mm in the first hour in men, and up to 20mm/hr in women, but this increases with the age of the individual. In the event that there is Rheumatic polymyalgia, these figures reach much higher values, generally above 50mm/hr.

In the same way, C-reactive protein (CRP) is also a marker that serves to detect inflammation and is usually found to be high.

Typical treatment

The basis for treatment of rheumatic polymyalgia is corticosteroids. Corticosteroids are given in low doses (between 10mg and 20mg per day), preferably taken in a single dose in the morning. The symptoms effectively improve quickly (usually in the first 24-48 hours), the pain and stiffness disappear, and function and autonomy are recovered.

Once the symptoms have disappeared, the dose prescribed by the rheumatologist will be progressively decreased in order to find the lowest possible dosage to control the disease. For controls, EST and CRP values are also taken into account as they usually go back to normal as the symptoms disappear, which demonstrates response to the treatment.

Symptoms

The clinical manifestations of these diseases are highly varied. Juvenile systemic lupus erythematosus may affect several organs in the body, particularly the skin, joints, blood, kidneys and the central nervous system. In children, it is common for fever to appear without an infectious cause or an increase in the size of the lymph nodes.

Juvenile dermatitis is characterised by the presence of fatigue, muscle pain, weakness and the appearance of rashes that may affect the face, with inflammation around the eyes (periorbital oedema) There may also be reddening of the cheeks (malar rash) and other parts of the body (top part of the knuckles, knees and elbows), where the skin may become thicker (Gottron’s papules). 
Juvenile scleroderma, whose name comes from the Greek and means “hard skin”, is characterised by the presence of lesions on the skin and affects various organs. Two types can mainly be identified: localised scleroderma and systemic scleroderma.

Kawasaki disease is characterised by the presence of a high fever of unknown origin, irritability, reddening of the eyes and various skin lesions, such as a rash on the torso, flaking fingers and reddening of the tongue (normally called “strawberry tongue”). The involvement of the heart is the most serious manifestation of Kawasaki disease, due to the possibility of long-term complications.

Schönlein-Henoch purpura is characterised by a rash on the legs called “palpable purple” because the skin lesions can be touched, and painful and swollen joints, abdominal pain and kidney problems may appear.

Who is affected by the condition?

All the conditions within the group are infrequent and have an incidence of less than 5 cases per 10,000 inhabitants, for which reason they are considered to be rare conditions. The spread is different depending on the disease. For example juvenile systemic lupus erythematosus, along with juvenile dermatomyositis and scleroderma, are more common in girls, while Schönlein-Henoch purpura is more common in boys.

Diagnosis

Diagnosis of paediatric systemic autoimmune diseases is eminently clinical and we are guided by classification and diagnostics criteria in many of them. Blood tests are important for diagnosing the different systemic autoimmune diseases, as various autoantibodies can be identified that can help with the diagnosis and monitoring of these diseases. Supplementary tests, such as a capillaroscopy, chest X-ray, respiratory function tests, nuclear magnetic resonance and echocardiogram, amongst others, can be helpful when we come to approaching a paediatric patient with a suspected systemic disease.

Standard treatment

Treatment fundamentally depends on the type of condition and the response to the therapy chosen. There is not currently any specific curative treatment for each one of the diseases, but the treatments available will help to control the signs and symptoms of the disease and prevent complications, including permanent damage to organs and tissue.

Although the main target organ is muscle, the skin and lungs, amongst other internal organs, are frequently affected, for which reason inflammatory myopathies are considered to be systemic illnesses.

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.

Immunotherapy has revolutionised the treatment of some cancers in recent years. The immune system's job is to recognise and eliminate tumour cells, which prevents the appearance of tumours. However, when the tumour cells evade the immune system, or it is not able to contain the tumour, that is when the cancer becomes apparent.

The principle underlying immunotherapy is over-activating the immune system so that it can act against tumour cells. Nevertheless, this over-activation of the immune system can favour the appearance of inflammatory autoimmune diseases such as arthritis or myositis.

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.

Symptoms

OI can cause fragile bones, short stature, delays in growth, deformities of the spinal column and other bones, blue sclera, hearing loss, and problems with the formation of the teeth (dentinogenesis imperfecta). In its most severe form, babies die shortly after birth. There are mild forms that can manifest with premature osteoporosis.

Prevalence

It is a very infrequent disease and is considered rare. The estimated incidence of OI is

approximately 1 out of every 10,000-20,000 births, but we must keep in mind that the milder forms may not be diagnosed.

Diagnosis

If a patient presents symptoms like those mentioned above, leading to the suspicion that they may have this disease, a genetic study must be carried out.

Treatment

It requires a multidisciplinary approach. Treatment aims to improve the impact on quality of life and prevent complications. Physical therapy, occupational therapy, detecting and treating dental and respiratory problems, dealing with hearing loss, and surgery to correct deformities are very important. Pharmacological treatment is carried out using widely employed osteoporosis drugs.