THE DIAGNOSIS OF LUPUS

Dr Graham R V Hughes MD FRCP
Consultant Rheumatologist
St Thomas' Hospital London SE1 7EH

LUPUS is an autoimmune disease, a type of self-allergy, whereby the patient's immune system creates antibodies which instead of protecting the body from bacteria, viruses and other foreign matter attack the person's own body tissues. This causes symptoms of extreme fatigue, joint pain, muscle aches, anaemia, general malaise, and can result in the destruction of vital organs. It is a disease with many manifestations, and each person's profile or list of symptoms may be different. LLTPUS can mimic other diseases, such as multiple sclerosis and rheumatoid arthritis, making it difficult to diagnose by GPs as they see few cases of lupus and thus are not alert to its possibility.

Physicians are often cautious with their diagnosis as they do not want to label anyone until they are certain of LUPUS. Moreover, a careful review of the patient's entire medical history is necessary, coupled with analysis of results obtained from tests relating to their immune status to provide accurate diagnosis. Currently there is no single test that can definitely say whether a person has LLTUS or not. Only by comprehensive examination and consideration of symptoms and their history can a diagnosis be achieved.

LUPUS is a complex disease in which almost every system in the body can be affected, and the diagnosis is based on a combination of symptoms, signs and test results. Once a diagnosis of LUPUS is made, the patient's symptoms should be treated as necessary. 7he goal of the treatment is to control the symptoms and the disease so that the patient can lead as normal a life as possible.

DIAGNOSIS OF LUPUS

or any other chronic illness may be established using the 5 Step Programme.

1. Review patient symptoms
2. Detailed physical examination
3. Battery of tests
4. Rule out other diseases
5. Time is sometimes necessary to observe the course of the disease.

THE FIRST PRINCIPLE

in making a diagnosis of LUPUS is that the individual has clinical evidence of a multi- system disease, and several manifestations such as those listed below may be present: -

THE SECOND PRINCIPLE

is to examine the status of the immune system and how the cells that comprise the immune system are functioning in individuals having a suspicious clinical history. The most useful test is the ANA (Anti-Nuclear Antibody) test, supported by and in combination with the clinical history.

The onset of LUPUS can be gradual with new and different symptoms appearing over weeks, months or even years. The symptoms are often hard to describe and can come and go suddenly, therefore it may often be that the patient might begin to feel "it is all in the mind". As a consequence such patients are frequently categorised as hypochondriacs.

The symptoms of LUPUS seem to fall into two categories, non-specific and specific.

NON-SPECIFIC SYMPTOMS

1. Fatigue - the most frequent symptom that affects people with LUPUS
2. Weight Loss
3. Weight Gain - may be caused by swelling related to organ involvement
4. Fever - indication that lupus is becoming active
5. Swollen Glands

Other additional problems commonly experienced by patients may be high blood pressure, headaches, vasculitis, increase in hair loss, miscarriage and Raynaud's Phenomenon.

SPECIFIC SYMPTOMS

To help distinguish LUPUS from other diseases, physicians of the American Rheumatism Association have established a list of 11 abnormalities which, when combined, point to LUPUS.

To make a diagnosis of LUPUS the patient must have had at least FOUR of these 11 manifestations at any time since the onset of the disease.

1. MALAR RASH - Fixed red rash over the cheeks
2. DISCOID RASH - Red patches of skin associated with scaling and plugging of the hair follicles
3. PHOTOSENSITIVITY - Rash after exposure to sunlight
4. MUCOSAL ULCERS - Small sores that occur in mucosal lining of mouth and nose
5. SEROSITIS - Inflammation of the delicate tissues covering internal organs and abdominal pain
6. ARTHRITIS - Very common in LUPUS, usually pain in the joints
7. RENAL DISORDERS - Usually detected by routine blood and urine analysis
8. NEUROLOGICAL DISORDER - Seizures or psychosis
9. HAEMATOLOGICAL - Haemolytic Anaemia, Leukopenia, Thrombocytopenia
10. IMMUNOLOGIC DISORDER - Tests on LE cells, anti-DNA and anti-Sm antibodies
11. ANTI-NUCLEAR ANTIBODY (ANA TEST) - When found in the blood and the patient is not taking drugs, it is known to cause a positive test for LUPUS in most cases, but is not necessarily conclusive

And helpful hints

1. Teenage 'growingpains'
Growing pains, at least in the UK, is a label widely used for joint pains in teenagers and seems to cover a spectrum of rheumatology from arthritis variants through to lupus.

2. Teenage migraine
Headache, cluster headache and migraine can be encountered and a strong history of teenage migraine may be of lupus significance, either at that time or subsequently.

3. Teenage 'glandularfever'
Prolonged teenage glandular fever is a label which crops up time and time again in lupus patients and prolonged periods off school in many SLE patients is a recurrent theme.

4. Severe reaction to insect bites
This is a feature of so many lupus patients. Not only are they susceptible to insect bites but often reactions are severe and prolonged - the skin is a major organ affected by lupus.

5. Recurrent miscarriages Lupus itself seems not to be a cause of recurrent miscarriage but where the antiphospholipid syndrome (APS) is present, recurrent spontaneous fetal loss is can be significant.

6. Premenstrual exacerbations
Although difficult to quantify, it is believed that significant premenstrual disease flare is sufficiently prominent in lupus to be included in this list. All rheumatic diseases are clinically influenced by the menstrual cycle.

7. Septrin (and sulphonamide) allergy
Adverse reactions to these drugs is quite common in lupus and the clinical onset of the disease may have coincided with the use of eg Septrin.

8. Agoraphobia
Agoraphobia/claustrophobia are often present at a time when lupus disease is active. A history of these conditions can be protracted, lasting for months or even years. In many cases the history is not volunteered or the episodes are in the interim considered unrelated to lupus.

9. Finger Flexor Tendonitis
Arthralgia and tenosynovitis are common features in lupus and although not specific, the finding of mild to moderate ten-finger flexor synovitis is a useful pointer in the presence of other lupus features. It is subtly yet significantly different in pattem from other arthritic diseases.

10. Family history of autoimmune disease
As the genetics and statistics of the various autoimmune diseases become better defined, the strength of a particular family history will become more precise. The family history is important, as lupus is genetically determined.

11. Dry Shirmer's test
A 'bone dry' Shirmer's test (levels of eye moisture) points towards one of the autoimmune diseases and in the patient with vague or nonspecific symptoms is worth its weight in gold.

12. Borderline C4
Genetic complement deficiencies have been known to be associated with lupus for over three decades and in the diagnostically difficult patient, especially where a family history is present, repeated borderline C4 levels can be significant indicators.

13. Normal CRP with raised ESR An important diagnostic aid. A very low CRP in an otherwise inflammatory situation is strongly supportive of lupus or primary Sjogren's syndrome.

14. Lymphopenia In the patient with non-specific complaints and unremarkable blood tests, a borderline or low lymph count can be overlooked. It can be common in lupus and is certainly worth inclusion among minor criteria.