Children with Connective Tissue Diseases

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

Usually , one suspects these diseases when

   

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

2) Sometimes they have typical rashes , the most classic ofwhich 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 mypractice with no skin changes at all.

4) Quite often they will have increasing fatigue, loss ofappetite, loss of weight, joint pain  anda general dullness- each of which are nonspecific features but add to theoverall picture

5) Sometimes they will actually have dramatically obvioussuggestion 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 multisystemSLE. These children will be definitely brought to medical attention and this iswhere awareness is needed to pick up the reason for this organ involvement tobe due to SLE rather than a childhood infection or other causes.

Children with Juvenile Dermatomyositis can present with verytypical skin rashes as well as progressive muscle weakness which is interpretedas fatigue. The children who were previously able to get up from bed and getready by themselves find it difficult to initiate any movement and need helpfor ordinary tasks of daily living. When the rash is typical, the diagnosis israrely 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 theillness.

Usually SLE occurs in adolescent girls though it can occurin 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 veryyoung age < 5 years who usually have a genetic form with a variable severity.

When SLE starts in childhood, it’s often more severe thanthe disease that starts in adults with a higher predeliction for severe organinvolvement requiring aggressive management compared to their adult onsetcounterparts. Both because less awareness among professionals as well asinconsistency of association of definite pointers like the rashes, thediagnosis  is often missed for a while.

Dermatomyositis in a child is usually easier to treat andhas a better outcome than onset in adults. The only problem is the increasedrisk for calcium deposits under the skin like large stony swellings which causepain and infection- occurs in children especially if early treatment isn’taggressive enough.

The diagnosis comes with clinical suspicion from thesymptoms and signs and initial commonly done blood tests and can then beconfirmed by definitive blood tests and appropriate biopsies and imaging asdirected by the clinical features.

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

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

Treatment is immunosuppression. It often involves steroidsat 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 withsevere presentations may require expensive medications like intravenousimmunoglobulin and Biologicals and these can be live saving.

Recognition of the actual severity of disease and treatingaccording to severity – children with mild presentation shouldn’t beovertreated either- makes the difference between life and death, and preservingorgan function for the long term

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

Juvenile Dermatomyositis on the other hand often willrequire an MRI of muscle to make the diagnosis and less commonly, a biopsy ofthe muscle. Treatment will include steroids in addition to secondaryimmunosuppression guided by the clinical presentation and as mentioned earlierexpensive infusions may be required in some children. Most children are able tostop all medications after several years and can live a long and completelynormal life while a few  children may notfare as well.

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

The key is again

•             Thinkingabout it

•             Pickingup early

•             Early andappropriately aggressive therapy

•             Early andappropriate referrals

When I was doing my MD in the year 1999 the 5 year survivalof Multisytem  SLE had a 5 year survivalof 5%- i e- 95% of them died due to disease and complications. Today in thedeveloped world and where access to good care is present the 5 year survival is95%! If that’s not progress , then what is?

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

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