Case study - Recurrent tiredness and joint pains

A rheumatological diagnosis was made in this young woman, explains Dr Harry Brown.

In systemic lupus erythematosus, skin manifestations, such as erythematosus rash on the face, are commonly seen in women patients
In systemic lupus erythematosus, skin manifestations, such as erythematosus rash on the face, are commonly seen in women patients

This patient, a 35-year-old flight attendant, had consulted many times in the past, with a number of different symptoms.

She often consulted about work-related stress and had been taking antidepressants, although she was not currently taking any medication and said her mental state was fine.

She complained of feeling tired all the time, a symptom she had mentioned recurrently in the past. Depite a battery of blood tests, nothing abnormal had ever shown up.

This time, she complained of aches and pains in her joints for the past two months and said she had found short-haul plane trips very tiring. Normally, she coped well with them and enjoyed this aspect of her work.

During this consultation, she asked for a note to excuse her from work. This was unusual, because despite her symptoms in the past, she could always manage work and said she had an excellent attendance record.

The patient's history was otherwise unremarkable, except for the fact that she was treated for what she described as 'pleurisy' two years ago while she was abroad. There were no records available.

She lived alone, was not in a relationship, and was a carer for her elderly disabled mother.

Blood tests

Examination was unremarkable, except for an odd, flat, erythematous rash under her chin. She had not noticed this, but did mention that she had been prone to rashes in the past six months, especially in hot and sunny weather.

Her joints were normal on examination, but she did seem tense and anxious, and she was relieved when I gave her a medical certificate for two weeks.

She returned two weeks later feeling calmer in herself, but the rashes and joint pains were worse and she requested another blood test. Her symptoms were different from the past, so I ordered a number of routine tests.

The results came back within a few days and for the first time, were mildly abnormal. She had low-grade anaemia with a normal MCV and all the other tests were normal.

I asked her to return to the surgery and this time, she brought a urine sample, which, when checked, had only a trace of protein.

The patient's joint pains were worse, especially after resting or getting up in the morning. I started to think of rheumatoid arthritis and requested a number of rheumatology-based blood tests, including autoantibodies.

This time, her results revealed a positive antinuclear antibody and I referred her to the rheumatology service. A diagnosis of systemic lupus erythematosus (SLE) was made.

The patient remains well, although she is on treatment. She is now back at work and relatively symptom-free.

Signs and symptoms

The signs and symptoms of SLE can vary, which in part reflects the fact that it can affect many body systems, sometimes leading to difficulty and delay in diagnosis.

Women are mostly affected by SLE, usually in the reproductive age range, while joint symptoms and dermatological manifestations are common.

The nervous system, heart, lungs and GI tract can also be affected and there may be haematological and obstetric complications. Renal involvement is relatively common, and it is often worth checking the urine with diagnostic sticks, as happened in this case.

Younger women with multiple symptoms affecting more than one body system may arouse suspicion. Tissue damage is mediated by an immune-based response resulting in a chronic disorder, which can flare up and settle over a period of time.

The precise cause is not clear, but SLE may be caused by an environmental trigger in someone with an appropriate genetic profile. As a result, autoantibodies are produced, which react with normal tissues, resulting in inflammation and local damage. These autoantibodies may target areas within cells. Their presence can be helpful in the diagnosis, while treatment often involves immunosuppression.

Rheumatology referral

Once suspected, referral to a rheumatologist with a specialist interest is advised, to establish the diagnosis and severity.

These patients need long-term follow-up and may be under more than one specialist's care, depending on the organ involvement.

Treatment will depend on the extent of the disease, but may involve NSAIDs, low-dose steroids and antimalarials. There is no cure.

Other immunosuppressive therapy may be used. Although the long-term prognosis for many patients is reasonable, this condition can lead to death, owing to its complications.

  • Dr Brown is a GP in Leeds.

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