Sjögren syndrome
What are the symptoms?
In common with other auto-immune diseases, it can have more general (systemic) effects including tiredness, fatigue and aching joints and muscles. Kidneys, brain or heart are rarely affected. SS is unlikely to lead to serious disability or reduced lifespan.
The disorder is extremely variable in its severity, presentation and disease associations. There are two main types of the syndrome:
Almost everyone with SS has dryness of mouth and grittiness of the eyes, but other secretions can be affected such as dryness of the air passages including nose and trachea. This tends to make the airways hypersensitive to irritants so very few people with SS tend to smoke.
SS also affects the sweat glands. This causes the skin to become dry and sensitive to strong sunlight and sun block creams are usually recommended during summer. In addition, regular application of moisturising creams is appropriate. Dry hair is one of the less common manifestations of the disease and may be alleviated with specially formulated shampoos.
Some people with SS may experience irritable bowel syndrome. This can cause lower abdominal pain and alteration in bowel habit. In some ways, it is similar to the 'irritable airways' and may be associated with low volume intestinal mucous secretions. Lack of mucus production in the bowel may cause constipation in some people, however, a high fibre diet may be sufficient to control for these problems.
Women with SS may experience vaginal dryness. In menopausal women, hormone replacement therapy (HRT) alleviates this, as well as relieving hot flushes and improving a sense of overall well-being. Fertility is not affected by SS and complications in pregnancy, which may include problems in the baby's heart, affects only a minority (two per cent) of women. Cardiac anomalies may be detected on routine ultrasound scans from about twelve weeks. Expert treatment and the involvement of a paediatrician from an early stage of pregnancy is recommended if this abnormality is detected.
Tiredness, lethargy and malaise are features common to many people with SS and may lead to feelings of complete exhaustion. Because these features are rarely associated with other clinical symptoms, they may be the source of social frustration given that an individual otherwise 'looks well.' Sometimes the tiredness follows a cyclical course during the day and may also be worse premenstrually. In such instances, laboratory tests for other causes of tiredness e.g. thyroid disease and anaemia (anemia - US) should be ordered, though the results are frequently normal. Medical treatment, particularly hydroxycholoroquine, has a modest therapeutic effect on fatigue in some people. Most sufferers use a 'coping strategy' that works for them, such as a period of rest during the mid-afternoon. Recent research has shown that graded exercise regimes, with a view to increasing physical fitness, can have substantial benefit both in improving quality of sleep as well as treating tiredness.
Arthritis of the joints is common but usually follows a relatively mild course. Small joints in the hands and feet tend to be affected. Pain is often more troublesome than swelling, and inflammation of the joints leading to destruction and deformity is rare in primary Sjögren syndrome. True inflammation of the muscles (myositis) is very rare but is recognised as causing pain, tenderness and weakness of the muscles, particularly around the shoulders and pelvis. Increased sensitivity of blood vessels to the cold causing Raynaud's phenomenon is common. Rarely the kidney may be involved.
True inflammation of blood vessels may occur and is termed 'vasculitis.' This tends to cause rash or ulceration of the skin in the legs.
Migraine does appear to be more common in people with SS and some affected people develop true inflammation of the lungs not due to infection. This can cause breathlessness on exertion and a nonproductive cough.
Background
| Inheritance patterns and prenatal diagnosis ![]()