Importance of a positive diagnosis

Many diseases present with aches and pains, general malaise and fatigue. Common ones include hypothyroidism, low vitamin D levels, diabetes mellitus, malignant disease, inflammatory joint disease and, less commonly, other autoimmune rheumatic disorders, such as systemic lupus erythematosus (SLE). It is essential when confronted by a patient with such symptoms to take a full history, paying particular attention to such factors as weight loss, change in bowel habit and the red flags associated with serious back pain (see Chapter 22).

A careful history and clinical examination will ensure that inflammatory arthritis and other autoimmune rheumatic disorders are excluded and that the typical signs of fibromyalgia, for instance, are present. Appropriate investigations may be necessary, such as autoantibody testing for indicative features (not as a blanket screening test), thyroid function, glucose, muscle enzymes (particularly in case of muscle weakness). It is particularly important that in suspected inappropriate pain and chronic fatigue syndromes a full medical screening is undertaken.

Fibromyalgia

Fibromyalgia is a relatively new condition. Although rheumatism, fibrositis and lumbago are terms of some antiquity, fibromyalgia became a recognized rheumatological diagnosis only in the early 1980s. It is important to emphasize that fibromyalgia is not a disease, and that some rheumatologists refuse to recognize its existence as a distinct entity. It can be precipitated by any condition that causes sleep disturbance, and can be induced by deliberate sleep deprivation. The diagnosis depends upon the presence of two main criteria: (1) widespread pain; and (2) associated symptoms of fatigue, unrefreshing sleep, cognitive features, plus a wide variety of possible somatic symptoms such as irritable bowel syndrome, dry mouth or eyes.

Typically, the patient reports that they wake feeling unrefreshed. Patients may report that on some days they feel good and full of energy, whereas on others they are very achy and feel exhausted. The response to this is to cram as much into the good days as possible, resulting in worsening of their symptoms over the course of the next few days.

Management includes improvement in the sleep pattern, attention to the underlying precipitating cause, and pacing. Typically, the sleep is improved by the use of small doses of a tricyclic antidepressant. The most popular is amitriptyline. Usually this is started in a very low dose, 10 mg, given 2–3 hours before retiring for the night. The dose is then slowly increased (i.e. every 7–10 days) by 10 mg until a dose is found that produces a good, refreshing, sleep pattern. However, the evidence base for its use is limited. By contrast, there is good evidence for benefit using serotonin- and norepinephrine-reuptake inhibitors duloxetine and milnacipran (the latter is licensed for use only in the USA) and the α₂δ ligand pregabalin.

Pacing can be a useful strategy for some patients. Because of the typical peaks and troughs of the condition, it is important that on the good days only normal activities are pursued, i.e. the amount that the individual can cope with on a bad day. This allows for a steady improvement in the physical capacity.

Unfortunately, the outcome for most patients remains unsatisfactory. Most studies show between 20% and 30% improvement in pain and quality of life respectively from pharmacological treatment. The effect of non-pharmacological treatment remains less certain. It is likely to be of most benefit in selected patients, such as those with significant psychological distress.

Complex regional pain syndrome

Although the physical signs may vary, the main feature is unremitting pain that interferes with normal activities. The pain is often described by the sufferer as burning or crushing. The pain may be modified by analgesics, but is rarely abolished and is often more sensitive to drugs aimed at neurogenic pain, such as carbamazepine, pregabalin or duloxetine. Another drug, milnacipran is available in the USA but not approved for use in the UK or Europe. Type I complex regional pain syndrome is idiopathic and was formerly known as reflex sympathetic dystrophy, Sudek’s atrophy or algodystrophy.

Type II complex regional pain syndrome follows a nerve injury and was formerly referred to as causalgia. CRPS type I is characterized clinically by severe prolonged pain out of proportion to any injury, allodynia (pain on light touch to the skin), cold, clammy skin and loss of function (Fig. 14.1). Typically the skin is red and has a shiny appearance, with hypersensitivity. The exact cause of the condition is unknown. A variety of physiological abnormalities have been described including autonomic dysfunction, microcirculation abnormalities and muscle mitochondrial changes, amongst others. Radiographs taken in established cases may demonstrate osteoporosis, which is frequently patchy. Magnetic resonance imaging (MRI) shows patchy or diffuse bone marrow oedema, on T2 images. Levels of inflammatory markers are not normally raised.

FIGURE 14.1 Complex regional pain syndrome affecting the left lower limb. Note the dusky discoloration of the left foot

CRPS type II is very similar to CRPS type I in the intensity of the pain, but usually without the obvious physical signs. Most cases of CRPS are treated by intensive physiotherapy and usually resolve slowly over a period of months. For many patients, the best approach is to help them adapt to and cope with the pain, using a combination of cognitive behavioural therapy, physiotherapy (specifically as graded exercise), analgesia and pain modifiers.

Chronic fatigue syndrome (cfs)

There is significant controversy surrounding the nature of CFS. Significant and strongly voiced differences of opinion exist between patients and health-care professionals regarding several aspects of management. These issues have hampered attempts to produce a sound evidence-based strategy for these conditions. There are likely to be several causes of CFS. CFS can be a complication of some viral illnesses, such as influenza or glandular fever. Similarly, severe, longstanding fibromyalgia can develop into CFS. Other precipitants appear to include surgical operations and debilitation associated with severe medical illnesses. Some cases appear to arise spontaneously. The condition is much commoner in women and there is a significant subgroup of adolescent sufferers.

Fatigue is the primary symptom. This is not just tiredness, nor the type of almost pleasant fatigue felt after heavy physical activity, but an overwhelming sensation that makes the sufferer feel physically ill. It is not relieved by sleep and, indeed, many patients complain that even when they do sleep properly (sleep is often disturbed, with early morning waking) it is not refreshing. Other symptoms include arthralgia and myalgia (which is why many patients are referred for rheumatological opinions), low-grade fever, irritable bowel syndrome, visual disturbance, and poor concentration and memory. There are usually good days and bad days and, as with fibromyalgia, there is a very strong temptation to overdo things on the good days. There are no specific clinical signs.

Wherever possible a positive diagnosis of CFS should be made, rather than seeing it as a diagnosis of exclusion. Other causes of fatigue, such as hypothyroidism and severe anaemia, do need to be considered in the differential diagnosis, but it is unusual for a good history and examination not to spot these types of problem, and simple screening tests, such as thyroid function and a full blood count, should be undertaken.

There is no clear evidence base for any benefit from any specific pharmacological intervention. Treatment consists of reassurance that the diagnosis has been positively made, that the condition is treatable, and that a programme is available. That programme should include carefully paced activity, help with sleep disturbance and cognitive behavioural therapy. There are a number of support organizations in the UK and elsewhere; an initiative by the Department of Health has produced a network of cooperative centres for the management of CFS.

Hypermobility syndrome

Between 10% and 25% of the population have joint laxity, but the majority of these individuals do not suffer pain from their hypermobile joints, and indeed can make use of their flexibility in sports and dance. Generalized hypermobility is most common in children, followed by young, white caucasian females. Patients with hypermobility and musculoskeletal injuries may present to their GP with non-specific pain, especially myalgia and arthralgia. Hypermobility syndrome is a term used to describe this group of musculoskeletal complaints, which appear to be associated with non-pathological excessive joint mobility. The most common form is termed ‘benign joint hypermobility syndrome’. Less common causes of joint laxity include Marfan syndrome, Ehlers–Danlos syndrome and osteogenesis imperfecta, which are beyond the scope of this book. Management of hypermobility syndrome includes reassurance (that they do not have arthritis), patient education, stretching and strengthening exercises for the affected joint or joints.

Rheumatic manifestations of metabolic and endocrine diseases

Many endocrine disorders have musculoskeletal manifestations. A rheumatological complaint may, therefore, be indicative of an undiagnosed endocrinopathy. An endocrine history will uncover common symptoms that suggest an endocrine cause (Box 14.1). Because endocrine and rheumatic diseases often coexist, it is important to ask about endocrine symptoms in a patient with an established rheumatological diagnosis.

In this section the common rheumatic manifestations of metabolic and endocrine disease will be discussed (Table 14.1). The more common diseases are concentrated upon, but some rarer disorders have been included if musculoskeletal symptoms are particularly prominent.

Table 14.1 Endocrine and metabolic diseases with musculoskeletal manifestations

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