SARCOIDOSIS IN CHILDREN
Sarcoidosis is mainly diagnosed in people aged 20 to 40 years. This webpage examines heredity and other issues surrounding sarcoidosis and children.
Sarcoidosis in children is extremely rare. The actual number of children with sarcoidosis is hard to assess due to the lack of an international systematic reporting system, but it has been estimated at approximately 0.4 to 1 per 100,000 children. Sarcoidosis has to be distinguished from Blau syndrome, which is another granulomatous condition that affects children.
Children of all ages can be affected by sarcoidosis, with the mean age at diagnosis being 11 to 13 years-old with equal numbers in both male and females. Only 3 studies have been published to date, two of them reporting a greater number of black children diagnosed with sarcoidosis in more than two thirds of cases.
Causes
The causes of childhood sarcoidosis, as in adult sarcoidosis, remain unknown. The current hypothesis involves the combination of 2 complementary factors: a genetic predisposition, and an exposure to an organic or a mineral antigen (a substance that triggers the immune system to produce antibodies against it) . Research studies are ongoing to test these hypotheses.
Heredity
If a parent has sarcoidosis, it is understandable to consider the consequences and risks for a newborn child. Hereditary factors may play a role in contracting sarcoidosis; however, this probably occurs in combination with one or more environmental factors. It is not yet known exactly which, if any, genetic factors are involved. In only around 10-20% of sarcoidosis cases, a family member has also suffered from the disease. There is no test that can predict whether your child will inherit sarcoidosis, and having sarcoidosis is not a definite predictor that your child will also have the disease.
Download the Leaflet:
Watch our Sarcoidosis in Children Q&A video with Dr Nadia Nathan. Filmed on the 8th September 2021.
Symptoms and Diagnosis
Children with sarcoidosis usually have the following general symptoms:
- Prolonged or recurrent fever
- Marked fatigue
- Weight loss or lack of weight gain
All organs may be affected, and children usually have three to four affected organs when diagnosed. The lungs are often involved and respiratory symptoms may also be present such as:
- Dry cough
- Breathlessness (dyspnoea) or rapid breathing (tachypnoea)
- Chest pain
Non-respiratory symptoms are also often present (see list below) and a full clinical examination is required:
- A decrease in visual acuity (measure of the ability to distinguish shapes and details of objects), eye pain or a red eye
- Peripheral nodes
- Enlarged liver or spleen, abdominal pain
- Skin disorders
- Joint pains
Testing for childhood sarcoidosis should be extensive. In most centres, a biopsy of an affected organ is required to assess the diagnosis and to exclude other conditions, especially infections or immune deficiencies. The tests include:
- Blood tests including inflammation tests, calcium, liver and kidney function, immune tests and Angiotensin Converting Enzyme (ACE) which may be raised. A blood test for genetic testing (to be used for research purposes) may be proposed to the child and their parents/caregivers.
- A chest X-ray and a high-resolution CT-scan to search for thoracic lymphadenopathies (enlarged lymph nodes in the chest), interstitial lung disease and/or signs of fibrosis (damaged tissue)
- A lung bronchoscopy with bronchoalveolar lavage (a procedure to collect a sample from the lungs for testing) to search for a lung inflammation
- Cardiac explorations (heart tracing), echocardiography
- Lung function tests (in older children)
- Eye examination
- Biopsy of affected organs: swollen glands, liver, skin, lymph nodes, or lung if needed
Treatment
Unlike sarcoidosis in adults, sarcoidosis in children is often an extensive and symptomatic disease at diagnosis, affecting the general condition of the child, but also one or more organs. As a result, most children will require treatment.
Corticosteroids (prednisolone and prednisone) are the most common drugs used for sarcoidosis and are usually highly effective. They can be given intravenously (through a vein) orally, or both, depending on the diagnosis. The length of the treatment is extremely variable in children and depends on the initial severity and how the condition progresses. Sarcoidosis can last for a few months to years. Steroids are usually well tolerated in children although there may be side-effects which will be closely monitored e.g. hypertension, hyperglycemia, weight gain, osteoporosis, immune deficiency. As the symptoms decrease or disappear, the use of steroids is usually reduced very slowly (over months) to avoid any disease relapse.
On rare occasions, other immunosuppressive drugs may be proposed.
How does childhood sarcoidosis progress?
There is very little research on this and the progression of sarcoidosis in children can vary greatly from a quick and stable recovery with no after effects to multiple relapses (return of symptoms) over time. It seems that around half of children with sarcoidosis require no further treatment in adulthood.
In all cases, a child with sarcoidosis will need long-term follow-up in a specialised center, and a transition of care to an adult center, even if asymptomatic (showing no symptoms) for years.
Support for Parents and Families
Childhood sarcoidosis affects the individual affected and may also affect the whole family. In most countries, sarcoidosis is included in children interstitial lung diseases (ChILD) parents associations, where parents can find important support and information. See the following website for more information:
http://www.klinikum.uni-muenchen.de/Child-EU/en/child-eu-register/Patient_parent_section/index.html
Medications and Pregnancy
If you are taking medication and are planning to have children, it is important to discuss this in advance with your doctor. You may need to reduce medication dosages. If anti-inflammatory agents (e.g., methotrexate) or NSAIDs are used, pregnancy is strongly discouraged. This also applies when you yourself are healthy, but your partner has sarcoidosis and is taking this medication. In both cases always consult your doctor.
Fertility
Usually there are no problems caused by sarcoidosis in itself relating to fertility. However, medication may adversely affect fertility – a particularly problematic substance is methotrexate.
Although sarcoidosis in principle can also occur in the genitals, this is fortunately very rare.
Pregnancy
Sarcoidosis does not prevent pregnancy or the birth of a healthy child. During the pregnancy, sarcoidosis symptoms may even reduce in many women. Six months after giving birth, sarcoidosis symptoms in some women can become active again.
Breastfeeding
Women with sarcoidosis may breastfeed as normal.
Medical Analysis
There are no specific tests that can be taken before you become pregnant. It is important to record the medication you (or your partner) may be taking for mapping its risks in discussion with your doctor.
Menopause
During hormonal changes, in particular relating to oestrogen, sarcoidosis symptoms may increase. It has not been studied scientifically whether the disease gains momentum during these periods. Indeed, sarcoidosis is primarily diagnosed in women aged between 20 and 40 years, before these hormonal changes occur. Those with acute sarcoidosis are likely to have recovered by this time.
Discuss your desire to have children with your doctor!
If you are taking medication for sarcoidosis and are pregnant or are planning a family, it is wise to consult your doctor. This applies even if your partner has sarcoidosis and you are healthy yourself.