The body has an immune system designed to protect the individual from infections and external threats, but every now and then, the immune system becomes autonomous and causes disease by attacking against the person itself.

This phenomenon is called autoimmunity and there are multiple diseases which arise through the inability of the body to distinguish itself from an outside environmental agent or infection.

What follows is activation of the blood white cells, especially lymphocytes and the production of antibodies which attach to, and damage, or destroy various organ tissues.

These diseases are based on a genetic component, versus frequently an exposure to an infection or unknown agent in the environment, frequently years before onset of the disease.

These autoimmune diseases include amongst many diseases:

Rheumatoid arthritis affects primarily the joints.

Crohn’s diseases affects the bowel

Ulcerative colitis affects primarily the colon.

Psoriasis can affect skin, nails and tendons and  joints.

Systemic Lupus erythematosus, is an inflammatory autoimmune disease affecting multiple systems and can vary from mild to life threatening.

In the case of lupus, what follows, is activation of the blood white cells, especially lymphocytes, and the production of antibodies which attach to and damage or destroy various organ tissues. 

The disease occurs in 1 – 10 per 100000 people worldwide.

There are some populations which are more susceptible.

This is especially African American women, 230 / 100000, the Hispanic 120 / 100000, the Asian population but also the mixed race population of the western cape

A study in Israel showed between 49 to 155 cases per 100000.

Sephardic and Bedouin were more common than the Ashkenazi jews.

The severity of disease may also be affected by the genetics and hormone status.

Ashkenazi jews generally were generally less severe at onset and had a better outcome.

The disease occurs especially in women age 15 to 45 but 10% start in childhood.

The clinical manifestations, vary from minor symptoms to life threatening disease, include:

Constitutional symptoms, which are common,  with fatigue, brain fog and fevers.

Different Skin rashes varying from

1.       An acute classical butterfly distribution rash on the face with sensitivity to light.

2.       A subacute non scarring skin rashes, on the neck chest and shoulders.

3.       A chronic scarring type called discoid lupus with scarring of the skin.

Hair loss called alopecia without scarring.

Mouth ulcers, which are usually painless and increase with disease activity.

Joint manifestations are common with morning stiffness, pain without swelling – called arthralgia, or if more severe, obvious swelling in the joints – arthritis.

Cardiac involvement with inflammation of the heart valves – endocarditis, or of the muscle – myocarditis or the lining of the heart – pericarditis, with varying severity of chest pain or heart failure with breathlessness.

Respiratory involvement with inflammation of the lining of the lung with chest pain on breathing called pleurisy, or involvement of lung tissue causing breathlessness.

Vascular involvement with spasm, causing Raynaud’s – white, blue and red color changes in the fingers in the cold. A lacy pattern of skin pink – blue color called livedo, is also seen with temperature changes. Severe inflammation of the blood vessels to the skin or internal organs called vasculitis, can occur. Hypertension is common, aggravated by kidney disease.

Brain involvement with headaches, depression, psychosis or even seizures, peripheral neuropathy with sensory disturbance of the hands and feet. Rarely, strokes of brain or spinal cord tissue can occur.

Blood disorders, from marrow involvement, or autoimmune peripheral blood involvement, with moderate to severe anemia or bleeding disorder because of platelet reduction or low white count and increased infection risks.

Clotting disorders may also occur called antiphospholipid syndromes. This can cause thrombosis of vessels or embolism to lung.

Gastroenterological  involvement with swallowing issues, abdominal pain or rarely pancreatitis or hepatitis.

Kidney disease – with varying severity of inflammation of kidney tissue causing blood or protein in urine on testing. This is the most important involvement in lupus, and in the past was the primary cause of death in patients from kidney failure.

Pregnancy issues. Very important because fertility and second trimester fetal loss is associated with lupus, especially if antiphospholipid antibodies are found. Hypertension and aggravated kidney disease and bleeding and clotting issues with pregnancy, cause potential harm to mother and child, if the disease is active and uncontrolled during pregnancy. It is essential to control disease before pregnancy can be undertaken.

The diagnosis is made on clinical suspicion with the clinical findings of the patient, with a  full history and examination, since the illness is so multisystem in nature. At the same time an indication of severity is made, by assessing for major organ involvement, especially kidney involvement by examining the urine.

Thereafter blood can be sent to the pathologists, looking at especially, the full blood count, the level of inflammation -the sedimentation rate (ESR), the kidney function (urea and creatinine) and the special tests for lupus antibodies (antinuclear antibody and anti DNA and ENA antibodies).

Once a diagnosis is suspected, the specialist of choice is the rheumatologist who will liaise with other specialists, especially renal physicians. Kidney biopsy might be required.

If a rheumatologist is unavailable, as there are relatively few in South Africa outside the major centers, a physician can be consulted who will liaise with a rheumatologist as best as possible.

The disease is characterized by flares of activity, with constitutional, skin and joint disease, seen very frequently. The organ complications are less common, but the specialist should see the patient more frequently,  depending on symptoms, or for regularly monitoring every 6 months. The patient should have their urine checked at each visit.

Treatment has revolutionized the management of the disease.

Antimalarial treatment with hydroxychloroquine is the foundation for almost all lupus patients.

Antiinflammatory medications may be used for pain and inflammation.

However more severe disease will require an immune suppression approach, with cortisone, in doses dependent on organ disease.

For those diseases requiring more than cortisone, or to limit cortisone dosing,  immune suppressant drugs like azathioprine, methotrexate, CellCept, cyclophosphamide or new more expensive, biologic drugs, especially rituximab,  and belimumab (the latter, unavailable in south Africa.)

With proper treatment, patients can have normal lives, have normal pregnancies, and the chances of survival have improved dramatically over the last 30 years, and survival has improved from 50% to >90% in the current era.

Dr Gotlieb
Rheumatologist.

arthritisdoc@gmail.com

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