Contents
Definition
Juvenile systemic lupus erythematosus (Juvenile lupus, jSLE) is the most common systemic connective tissue disease among children. The disease that is identical to SLE in adults, is nevertheless rare. Juvenile SLE can cause disease in the skin, joints, kidneys, lungs, nervous system and some other organs. Blood tests show clearly elevated ANA test (antinuclear antibodies) and most often in special subgroups of ANA.
Occurrence
SLE is rare and is almost absent before the age of 5. Most people who get sick are young people and adult women aged between 15 and 45, but approximately 20% get SLE before the age of 20. Women/girls are attacked 10 times more often than men/boys (references: Kamphuis S, 2010; Chiewchengchol D, 2015). The incidence varies considerably between different populations and geographical areas in the world. The incidence is higher among Africans, African-Americans and Asians than among ethnic Norwegians. Number of new cases per year thus varies in the population between 0.28 and 0.48/100,000 children (incidence) and has between 6.3 and 24.0 per 100,000 have the disease (prevalence). The variations, depending on which population one belongs to (reference: Hiraki LT, 2009).
Disease Cause
The cause of SLE, also among children, is unknown. No virus, bacteria or other infection has been detected. Hereditary (genetic) predisposition may matter, but close relatives rarely have SLE. Environmental factors such as sunbathing and hormonal changes (girls in puberty) are also believed to be contributing factors. Once the disease has started, the immune system is too active and mistakenly damages the body's own tissue. This results in rheumatic inflammation that damages joints, skin, blood and internal organs. A rare, genetic cause of severe SLE-like changes in the skin + vasculitis in children is STING mutation. Other predisposing gene defects are homozygous C1q deficiency, C1r deficiency, C4 deficiency or C2 deficiency (Reference: Lintner KL, 2016). In newborns can antibodies SSA and SSB from the mother cause SLE-like skin changes in the form of neonatal lupus.
Symptoms
The most common symptoms of juvenile SLE are fever, night sweats tiredness / fatigue, rashes on the body, arms, fingers, legs and/or face (“butterfly rash”), hair loss, joint pain and joint swelling (often finger joints), reduced appetite and eventually weight loss. Psychosis with lost understanding of reality and/or epilepsy-like convulsions can also be early symptoms.
Examinations
Medical history maps the symptoms (see above) and helps to assess the course and spread of the disease, which is important for the degree of severity. Signs of blood clots (thrombosis) are requested.
Clinical examination covers joints, skin, internal organs and assessment of the general condition. Fever (over 38,3 degrees) and obviously impaired general condition are common. Rashes on the face (on the cheeks and above the bridge of the nose) and spots around the body are not unusual. Strikingly marbled skin can be seen at the same time Antifosfolipid syndrome. Oral ulcers and hair loss are assessed. Joint pain and joint swelling (Arthritis) is often detected, especially in finger joints. Swelling above the ankles can also be fluid / edema from kidney inflammation (glomerulonephritis). Unilateral swelling may indicate consideration for a blood clot (vein thrombosis). Psychosis and/or convulsions are signs that the brain / central nervous system has also been attacked.
Blood tests. Elevated erythrocyte sedimentation rate (SR), low CRP, low blood cell count (cytopenia: hemoglobin/red, white, platelets) occurs and greatly elevated ANA test is almost always present. Typical ANA subgroups are Antibodies against DNA, Sm, SSA, SSB, c1q and more. antiphospholipidAntibodies (indicates blood clot risk). Low complement factors (C3, C4) indicate disease activity. If hemoglobin is low, it can be assessed whether hemolysis is present (haptoglobin is low, Coomb's test positive, reticulocytes high). Hemolytic anemia is seen in 10-15% (reference: Ramirez Gomez LA, 2008).
Urine with proteins and/or traces of blood (erythrocytes) in case of kidney inflammation.
Imaging. In CT of the lungs, fluid in the lungs and pericardium can be detected in some cases. In case of chest pain, CT can also reveal blood clots in the lungs (pulmonary embolism) in predisposed individuals. The lung tissue itself is otherwise rarely attacked. MRI of the brain is done if symptoms from the central nervous system are suspected.
Tissue sample (biopsy) from the affected skin can contribute to the diagnosis. If there are signs of kidney manifestation, a biopsy from the kidney is relevant, both for the diagnosis and the degree of severity.
Diagnosis
SLE is detected when a combination of several typical symptoms and examination findings is present. Since these are developed over time, it can take from weeks to months before the diagnosis is certain. Several types of typical antibody at the same time in the blood strengthen the diagnosis. It is always important to rule out other diseases that may initially cause similar symptoms.
Similar diseases / differential diagnoses
- Aicardi-Goutieres Syndrome (AGS); neurological symptoms, Chilblain symptoms on fingers and toes.
- Autoinflammatory disease: TNFAIP3 mutation (HA20). PFAFA
- Lyme disease
- Infections: Viral CMV, EBV, Parvovirus B19, HIV. Sepsis (Streptococcus, salmonella), Brucella, Leptospirosis, Q fever (coxiella), Tbc (mycobacteria), Borrelia, Toxoplasmosis.
- Langerhans histiocytosis
- Cancer: leukaemia, lymphoma (Hodgkins/Non-Hodgkins), neuroblastoma.
The treatment
Medicines that dampen the overactive immune system and prevent organ damage can be vital in juvenile lupus. The drugs slow down the disease activity and later keep it in check. SLE cannot be cured, but with the right drug choice, good follow-up and the right dosage, the disease is usually controlled so that late damage is prevented. The treatment requires experience with SLE in children and is a specialist task. Among drugs are Prednisone, Plaquenil, Azathioprine and / or other immune suppression most commonly used.
For the treatment of SLE and lupus nephritis in adults, specific recommendations have been drawn up by, among others, EULAR. Reference is made to guidelines in published literature (Fanpouirakis A, 2019) (Thomas Dörner, Richard Furie, 2019) (Fanouriakis A, 2020) and the supervisor of Norwegian rheumatology association/medical association.
Diet
Studies do not indicate that particular diet or supplements of vitamins or trace elements have a special effect. However, in the case of long-term illness and medication, regular meals with a well-balanced diet are important to prevent weight loss, a lack of proteins, vitamins, calcium and other minerals. This is especially important for children during periods of growth. When using Prednisolone (cortisone), supplements with calcium and vitamin D are often given to reduce the risk of osteoporosis (osteoporosis.).
Prognosis and prevention
Medication causes juvenile lupus to enter quiet phases, but can typically flare up again, even after several years. Long-term, regular use of drugs is therefore important.
- It is known that sun rays and tanning can both cause eczema and cause a general relapse of the disease.
- Some of the medications can also cause problems with tanning. Caution and use of high factor sunscreen is recommended. The course of the disease is very individual.
- Some are severely attacked, while others live an almost normal life with few symptoms.
To live with juvenil lupus
It can be very frightening to hear that you or your child has SLE. One way to deal with the disease in the best possible way is often to be well informed about SLE, follow the doctors' advice and attend check-ups. There must be collaboration between specialist and GP, and one must have the opportunity to quickly make contact if the illness requires it.
Literature
Children with rheumatic disease, BINDEVEVSSYKDOMMER.no
