Juvenile Rheumatism
Juvenile rheumatism or Juvenile Idiopathic Arthritis (JIA) is one of the best-known autoimmune diseases in children. Juvenile means that the first symptoms developed before the age of 16. Idiopathic means that the cause of the disease is unclear.
Different forms of JIA
There are different forms of JIA. Only after six months is it possible to determine which form of JIA you have. It is then assessed how many inflamed joints there are (have been), and whether there are other symptoms such as fever, skin rash and/or organ involvement.
What symptoms do you have with JIA?
Joint inflammation occurs in all forms of JIA. Your joint is then:
- Warm
- Sore
- Swollen
- Stiff: especially in the morning or after standing or sitting for a long time
Other symptoms:
- Fatigue
- Fever, especially in children with systemic JIA
- Eye inflammation
How is it diagnosed?
The doctor makes the diagnosis o based on the symptoms you report, the physical examination and additional tests where necessary.
Osteogenesis imperfecta
What is OI? Osteogenesis Imperfecta (OI) is a rare, congenital and inherited connective tissue disorder. The most striking core feature of OI is the high fragility of the bones. The condition is therefore called Osteogenesis Imperfecta, which literally means 'imperfect bone formation'. Other features include hearing impairment, blue eye, stunted growth and bone deformities. Symptoms vary greatly from person to person and stage of life. OI cannot be cured. However, the negative consequences of OI can be limited by proper counselling and treatment.
Rare
Out of every 15,000 to 20,000 people, one has OI, so in the Netherlands there are 800 to 1,200 people with OI. Every year, 10 to 15 children with OI are born here. OI occurs equally in men and women.
Congenital and hereditary
OI is congenital and the consequences of OI vary throughout life. OI is caused by a small error (mutation) in the hereditary material (DNA). Someone with OI may have inherited it from their parents, but sometimes people without OI have a child with OI. The mutation is then usually newly created and is called a 'spontaneous mutation'.
Connective tissue disease
Connective tissue provides strength and proper shape throughout the body. Collagen fibres, a kind of very small steel cables, are an important part of connective tissues. In bones, skin, tendons, joint capsules, cartilage and the white of the eye, these collagen fibres are made of the protein 'collagen type 1'. This substance is either deficient, abnormal or both in people with OI. As a result, the strength and shape of the aforementioned tissues are different, causing all kinds of problems.
Symptoms
The consequences of OI are very diverse. They vary in severity from person to person and stage of life, and not everyone with OI has the same symptoms. The most common and prominent symptoms are:
- Bone fractures: Bone fractures occur mainly in the ribs, arms and legs, but all bones are very fragile. Fragility is greatest in very young children, with bone fractures sometimes occurring even before birth. A wrong movement or bumping into oneself can cause a fracture in some people with OI. After puberty, fragility often decreases. The number of bone fractures throughout life ranges from a few to more than a hundred fractures. Bone fractures unfortunately hurt people with OI as much as anyone else.
- Abnormally shaped bones: e.g. crooked bones in legs or arms, a collapsed spine and differently shaped skull and chest.
- Abnormal development of gross motor skills such as later sitting, standing and walking and 'bum sliding' instead of crawling.
- Quickly crumbling, blue-grey or brownish teeth
- Impaired hearing
- Blue whites of the eyes
- Short height (sometimes even less than one metre)
- Shortness of breath or lack of oxygen due to deformed chest or spine
- Heart valve defects
- Lower muscle tone and reduced muscle strength
- Tendon injuries
- Groin and umbilical hernia
- Overmobile joints (hypermobility)
- More frequent bruising
- Poor heat tolerance and excessive sweating
- Above-average frequent to constant fatigue and pain
Diagnosis
The diagnosis cannot always be made with certainty based on symptoms. X-rays, DNA testing and an examination of collagen in the skin can support the diagnosis.