Children with Connective Tissue Diseases

Juvenile onset SLE or Systemic Lupus Erythematosus is the most frequently encountered among these. There’s also a typical Skin and Muscle disease called Juvenile Dermatomyositis and a few other types

Usually , one suspects these diseases when

1) A child could be running temperatures continuously for more than a couple of weeks without any identifiable cause

2) Sometimes they have typical rashes , the most classic of which occurs in a butterfly pattern over the face and cheeks around the nose.

3) Some children develop ulcers on lips and in nostrils , but children can present with rashes over their body or quite commonly in my practice with no skin changes at all.

4) Quite often they will have increasing fatigue, loss of appetite, loss of weight, joint pain  and a general dullness- each of which are nonspecific features but add to the overall picture

5) Sometimes they will actually have dramatically obvious suggestion of serious system involvement at onset itself- kidney failure, seizures, strokes , behaviour changes , psychosis, severe abdominal pain , blackening of digits due to poor blood circulation  – what we call organ affected or multisystem SLE. These children will be definitely brought to medical attention and this is where awareness is needed to pick up the reason for this organ involvement to be due to SLE rather than a childhood infection or other causes.

Children with Juvenile Dermatomyositis can present with very typical skin rashes as well as progressive muscle weakness which is interpreted as fatigue. The children who were previously able to get up from bed and get ready by themselves find it difficult to initiate any movement and need help for ordinary tasks of daily living. When the rash is typical, the diagnosis is rarely missed. However if rash is mild, atypical or if has been modified ( usually alternative medicines) by therapy, it can cause delay in pick up of the illness.

Usually SLE occurs in adolescent girls though it can occur in boys too. At least 20% of SLE patients have commenced disease in childhood < 18 years.

There is also a small group of children who start at a very young age < 5 years who usually have a genetic form with a variable severity.

When SLE starts in childhood, it’s often more severe than the disease that starts in adults with a higher predeliction for severe organ involvement requiring aggressive management compared to their adult onset counterparts. Both because less awareness among professionals as well as inconsistency of association of definite pointers like the rashes, the diagnosis  is often missed for a while.

Dermatomyositis in a child is usually easier to treat and has a better outcome than onset in adults. The only problem is the increased risk for calcium deposits under the skin like large stony swellings which cause pain and infection- occurs in children especially if early treatment isn’t aggressive enough.

The diagnosis comes with clinical suspicion from the symptoms and signs and initial commonly done blood tests and can then be confirmed by definitive blood tests and appropriate biopsies and imaging as directed by the clinical features.

There are even less frequently occurring diseases like Scleroderma and Sjogren’s Disease. Scleroderma means stiffening of the skin. What is more common  to children is the presentation of a very localised form of Scleroderma where patches may appear on one or more parts of the body where the skin gets thick and fixed to the underlying tissue suchbthan it cannot be pinched up  separately. Especially when these patches spread to stretch across joints or one side of the face they can cause  disfigurement because of lack of growth of tissue underlying the stiff patch. This is treated with immunosuppression for a few years with usually good outcomes if diagnosed early.

While Sjogren’s Disease can present variably, children with recurrent swelling of the salivary glands particularly the parotid gland on the sides of the face need to be evaluated for consideration of this problem. Some of these children might be commencing Sjogren’s syndr in this manner , however all children with recurrent parotid swelling will not be diagnosed with this condition.

Treatment is immunosuppression. It often involves steroids at onset plus other immunosuppressive agents  The choice of the drugs depends on the severity of the presentation. There is an array of medications available of differing potency. Children with severe presentations may require expensive medications like intravenous immunoglobulin and Biologicals and these can be live saving.

Recognition of the actual severity of disease and treating according to severity – children with mild presentation shouldn’t be overtreated either- makes the difference between life and death, and preserving organ function for the long term

Treatment for SLE aid lifelong although in most children we are able to reduce the dose of steroids to minimal in months and stop in a couple of years. Secondary immunosuppressive medications are continued for longer periods of time and there could be one drug called Hydroxychloroquine left for a lifetime which is a mild immunomodulant with many advantages in these children. The planning of treatment, choice of drugs and adjusting drugs to aid pregnancy and lactation when older are all standard protocols now.

Juvenile Dermatomyositis on the other hand often will require an MRI of muscle to make the diagnosis and less commonly, a biopsy of the muscle. Treatment will include steroids in addition to secondary immunosuppression guided by the clinical presentation and as mentioned earlier expensive infusions may be required in some children. Most children are able to stop all medications after several years and can live a long and completely normal life while a few  children may not fare as well.

These diseases again must be treated in a multidisciplinary environment – a lot of specialists and care providers might be integrated- but, with the Rheumatologist at the helm.

The key is again

•             Thinking about it

•             Picking up early

•             Early and appropriately aggressive therapy

•             Early and appropriate referrals

When I was doing my MD in the year 1999 the 5 year survival of Multisytem  SLE had a 5 year survival of 5%- i e- 95% of them died due to disease and complications. Today in the developed world and where access to good care is present the 5 year survival is 95%! If that’s not progress , then what is?

Dr. Mukhtar Ahmad Masoodi, is Consultant Rheumatologist, Florence Hospital Chanpore, Srinagar Kashmir. 190005