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Rare Diseases in Rheumatology
Chris Scott Ass Prof Paediatric Rheumatology
Red Cross War Memorial Children’s Hospital University of Cape Town
RareX- October 2016
Paediatric Rheumatologist
• Care for children with rheumatic diseases
• Connective tissue
• Any organ in the body can be affected
• Arthritis is a feature of many of them but certainly not all
• Why become a Paediatric Rheumatologist
• Wanted to help Children with JIA as these kids appeared to have very little access to specialised care.
CNS: SLE,PACNS,NOMID,Sarcoid,NMO
Hands: Raynauds,Scleroderma JDM,SLE
IBD,SLE,PAN,Bechets,Sarcoid
Lungs: SLE,JDM,MCTD,AAV,JIA
Renal: HSP,SLE, Scleroderma, PAN,AAV
Heart: SLE,JDM,Kawasaki,Bechets, PAN, Takayasus, RF
Joints: JIA,CRMO,HSP,PAN,RF
Fever: SLE,sJIA,FMF,Bechets,IBD,Sarcoid,AAV,Takayasus…......
Muscle: JDM, polymyositis
Skin: sJIA,MAS,,CAPS
JIA
Chronic
Arthritis
<16yr
No other cause
>6wks
Year Lived with Disability Sub-Saharan Africa Ages 4-15
Oligoarticular
<4 joints ANA Uveitis
Enthesitis Related hlab27
Psoriatic
Polyarthritis RF negative
Polyarthritis RF positive
Systemic JIA
Extended >5
6 months
JIA ‘subtypes’
0
100
200
300
400
500
600
700
800
900
1000
1
2011
2012
2013
2014
2015
Rheumatology Clinic Stats
Fibrodysplasia Ossificans Progressiva
• Lessons from one rare disease
Mutation ACVR1
‘Stone Man Syndrome’
Image Credit: Eileen Shore, PhD and Frederick Kaplan, MD, University of Pennsylvania School of Medicine; Nature Genetics, 23 April 2006, DOI: 10.1038/ng178
First FOP 2009
IFOPA and Advocacy •Founded by Jeannie Peeper in 1985
•Now 725 members in 57 countries
•Play key role in advocacy and funding for FOP research
•Have supported formation of South African branch
Advocacy: Awareness
•Talks
•Media
•Conferences
•publications
Support and information for patients
Patient Age current
Age diagnosis
Year of diagnosis
Ancestry
Hallux valgus
Biopsies
Disability Additional Comments
Case 1 46years 6years 1970 Xhosa prominent None Completely immobile. Only able to move eyes and tongue.
Profound iron deficiency anaemia due to diet tea and bread as unable to open mouth and chew. Thoracic insufficiency syndrome and pulmonary hypertension
Case 2 45years 15years 1980 Xhosa prominent None Spine ad arms completely immobile. Able to walk unaided
No clinical features of thoracic insufficiency syndrome. Gainfully employed.
Case 3 6 years 6years 2010 Xhosa mild None Extensive heterotopic ossification over back and spine. Arms and neck immobile and arms tethered to thorax.
Jaw and legs completely spared at this point.
Case 4 8years 8years 2010 Mixed prominent None Heterotopic ossification over back and spine. Arms and neck immobile and arms tethered to thorax.
Presented after injury at school. Has had serious fall due to inability to protect with arms and developed large swelling over right eye.
Case 5 2years 2years 2010 Xhosa prominent None Hard mass between scapulae. Rigid cervical spine and limited abduction of arms
Fitted with a helmet to protect against head injuries.
Case 6 27years 27years 2010 Mixed prominent None Completely immobilised at time of diagnosis. Bed ridden since 2005. Some movements are still possible in his fingers, wrists, left elbows, both ankles, eyes and tongue. All other joints are ankylosed / fused including jaws.
Misdiagnosed as Ankylosing spondylitis initially.
3 other cases (Jhb , Dbn)
Dr Lawrence Owino Okong’o • Trained at Red Cross/UCT • 2 Diagnosed Cases of FOP in 3 months
after returning to Nairobi
We know about 15 patients in Africa…. FOP occurs with frequency of 1 in 2mil-4mil people What about the other 250-450 patients with FOP?
FOP Meeting in Manchester 2014
The Future for Rare Diseases in Rheumatology
• Must find ways to engage in international communities assisting patients with Rare Diseases
• As healthcare systems develop patients find diagnoses
• Patients in developing countries considered in drug development efforts- not marginalised
• IFOPA and the FOP community are an example for others to follow
International Collaboration
• Training and Education
– e.g. African Paediatric Fellowship at Red Cross
• International Research Collaborations
– E.g PRINTO (Paediatric Rheumatology International Trials Organisation)
– Collaboration in terms of Epidaemiology and basic research as well as clinical Drug trials is essential
• Participating Pediatric Rheumatology Centers: 130
• Participating Countries: 53
o JIA patients enrolled: 8,779
o 6 Geographic Areas:
Policy Change
• Policies in Europe and USA have supported care of patients with rare diseases and drug development for rare diseases.
• This has led to a massive development in therapies
• Expense of these therapies mean they are rarely accessible to patients in developing countries
• Since the Orphan Drug Act was passed in 1983, 77 drugs for rare rheumatic diseases have received orphan drug designations, and 14 orphan drug approvals have been granted.
• In Developing countries a policy void as focus is on communicable diseases and common disease
• Policies are needed to protect these vulnerable children- otherwise….
Therapy for rare diseases = Pie in the sky
