COLLAGEN DISEASES IN ADOLESCENTS DR.CHANDRIKA RAO PROFESSOR AND HOD. M.S.RAMAIAH MEDICAL COLLEGE AND HOSPITAL BANGALORE
Definition • Collagen-Greek-`Glue producer` • Collagen diseases-A small group of disorders due to structural or metabolic defects in collagen.
CASE 6'4", Armspan of 6'7“. He has hypermobile joints in his knees, shoulders and ankles.
Collagen-Structure • Generic term for proteins forming a triple helix of three polypeptide chains . • All members of the collagen family form these in the extracellular matrix . • Size, function and tissue distribution vary considerably. • N=28
Collagen vascular disorders • Discoid lupus erythematosus • Systemic lupus erythematosus • Neonatal lupus erythematosus • Juvenile dermatomyositis • Childhood scleroderma
Approach • Detailed history • Progressive • Multiple areas involved • Skin,Musculo-skeletal involvement • Family history • Remmision and relapse
GENETICS Different Types of Mutations in Collagen I Chain Genes Cause Different Disease Severities
Family Tree 45 AAA 28 aortic aneurysm, aneurysm of kidney ? 69 28 AA 31 AA, cerebral hemorrhage 44 28 AA 45 ?valve replacement 13 aortic aneurysm
Ehlers-Danlos syndrome The signs and symptoms of Ehlers-Danlos syndrome vary from mildly loose joints to life-threatening complications
Diseases of Elastic Fiber • Cutis laxa • Williams syndrome • Buschke-Ollendorff syndrome • Menkes disease • Pseudoxanthomaelasticum, • Marfan's syndrome
SLE Revised Diagnostic Criteria • Malar rash • Discoid rash • Photosensitivity • Oral ulcers • Arthritis • Serositis • Renal disorder • Haematologic disorder • Neurologic disoder • Immunologic disoder • ANA 4/11 are present serially or simultaneously.
Preliminary Classification Criteria for Undifferentiated Connective-Tissue Disease
Investigation • CBC,ESR,CRP X-ray • Urinalysis CT Scan • Serum creatinine Early renal biopsy • Rheumatoid factor (RF) • ANA-IFA • Other: • CK,C3, ,TSH,Anti-Ro/SSA,Anti-La/SSB • Anti-Smith,Anti-cardiolipins, • Lupus anticoagulant • Vitamin D - 25(OH)D3
Treatment • Early diagnosis.HEADDSS • May still utilize tried & tested agents initially • Phenytoin, Cyclosporine,Ca Channel blocker-Nifedipine-stimulatory drugs. • Newer immunosuppressive & immunomodulatory-NASAIDS,Cox-2inhibitor, Cyclosporine, Azathioprine, Ca channel blocker.
CONCLUSION • A multidisciplinary approach. • The aim should be to reduce disease activity to a minimum level and to allow treatment free intervals, so that the growth, development, and fertility of these children are ensured.
Thank you • Q:Acquired collagen disorder?