The journey of a patient
with CVID
Meet Helen. She is a person with Common Variable Immune Deficiency (CVID), an heterogeneous group of diseases characterised by a significant failure to produce specific antibodies and susceptibility to bacterial infections.
The effects of CVID vary, most patients have recurrent infections, and some may have enlarged lymph nodes, autoimmune disorders as well as disease-related complications which affect their organs including their lungs, heart, bowel, spleen and liver.
Symptoms description
GENERAL
Fever
Fatigue
ENT
Sinusitis
Otitis
Tinnitus
Loss of hearing due to infections
Dizziness in case of otitis
Allergy
NUTRITION
Eating disorders
Malabsorption
Denutrition
Obesity
GASTROENTEROLOGY
Gastro enteritis
Splenomegaly
Hepatomegaly
Loss of appetite,
Nausea, vomiting
Weight loss
Elevated liver enzymes Abdominal pain/discomfort Granulomas (liver, gut) Digestive ulcers
Chronic/recurrent diarrhoea Mucus and blood in stool
(infection-related or inflammatory bowel disease related)
Infections (bacteria/viruses)
HAEMATOLOGY
Pancytopenia (anemia, thrombocytopenia, lymphopenia)
Lymphadenitis
Haemolytic anemia
Leukocytopenia
Very low IgG level
Very low IgM level
Very low IgA level
Low IgG subclasses
Lymphomas/Leukemia
Hepato-splenomegaly
NEUROLOGY
Development
/growth delay
Meningitis Gait
/motor alterations
DERMATOLOGY
Skin infections (folliculitis, infections,
delayed scarring, warts)
Vasculitis
Purpura/petechiae
Muscel skin layer painful
Chronic/recurrent eczema Bruising
Silver hair, fragile hair
Ombilical cord issues
RESPIRATORY
Wheeze
Difficulty breathing
Cough
Coughing up blood
Asthma
Repeated chest infections
RHEUMATOLOGY
Moving joint pains or inflammation
Arthritis
Osteopenia (in children/young)
Osteoporosis
Recurrent tendinitis
INFECTIONS
Sepsis
Long lasting/severe/repeted varicella
Recurrent/More severe/Atypical or opportunistic infections
Lymph nodes
Shingles
Repeated influenza
Recurrent fever/inflammation
Need of intravenous antibiotics
REQUIRED PRACTITIONERS
General Practioners
Paediatricians
Internists
Microbiologists
Organ specialists: – Pulmonologist, – Digestive, – Dermatologist, – Hematologist, – Neurologist, – Rheumatologist, – Haematologists, – Immunologists, – Infectiologists,– Allergists – Dentists, – Ophtalmologists
Emergency ward
Symptoms Challenges
HEALTH IMPACT
A wide range of very diverse symptoms:
– Varying from person to person
– Possibly changing throughout life
– Appearing in childhood as well as in adulthood
Various situations of onset:
• After repeated infections, pneumonias
• After autoimmune cytopenia
• After lymphadenopathy or splenomegaly enlargement
• After chronic diarrhoea
• After vaccine adverse reactions or infections
• After given birth
• After being in the sun
• After exercising
ACCESS
Symptoms are addressed rather than the underlying condition that is not diagnosed
ADDED RISKS
Risk of permanent organ damages (bronchiectasis/malignancy/death)
HEALTHCARE PROFESSIONALS AWARENESS & EDUCATION
Doctors don’t know about PIDs (ie when hospitalised…)
Lack of immunologist
PSYCHOLOGICAL & SOCIAL IMPACT
Living with a chronic invisible condition
Being regularly unwell
Being afraid of catching infections
Absences from work or from school.
Family burden (care-takers)
Stigma because of unusual symptoms
People being always ill, but not being believed they are ill
Financial challenges (ability to work)
Symptoms Needs
ACCESS
Early accurate diagnosis
Immunologists for children and adults
Expertise centres
QUALITY OF LIFE
Possibility for home schooling or available distance learning service from school
Possibility for home working
HEALTHCARE PROFESSIONALS AWARENESS & EDUCATION
Awareness on warning signs
Medical education of general practitioners and other healthcare professionals
RESEARCH
Research on these conditions
Publications
SUPPORT & ADVOCACY
Patient organisations
Diagnostic description
BIOLOGICAL
Decrease levels of
immunoglobulins
with abnormalities
count of B cells
Autoimmunity panels
Microbiological tests
CLINICAL
Family history
Prenatal study
Birth screening
Infection history
IMMUNISATION
Immunisation response
IMAGING
TECHNICS
GENETIC
TESTING
REQUIRED PRACTITIONERS
PID specialists
Immunologists
Organ specialists
Biologists
Psychologists
Social workers
Diagnostic Challenges
ACCESS
Patient odyssey before accurate diagnosis
Symptoms can appear before the age of 3, but no definitive diagnosis possible before age of 4
Misdiagnosis
Often not diagnosed until adulthood
Genetic counselling
Genetic testing
PSYCHOLOGICAL AND SOCIAL IMPACT
Difficulty for the patient/parents to accept the chonicity of the disease and of the treatment
HEALTH IMPACT
Severe, unusual, recurrent bacterial infections
Late diagnosis can lead to permanent organ damages Need of ENT (Ear, Nose, Throat) surgery(ies)
ACCESS TO EARLY, ACCURATE DIAGNOSIS
Possible associated conditions
• Auto inflammation
• Auto immunity
• Allergy
• Malignancy
Be hospitalised for another reason than the PID in the emmergency ward where doctors don’t know about PIDs and may not listen to the patient /parent
HEALTHCARE PROFESSIONALS AWARENESS & EDUCATION
Impact on both patient and carerMany specialists, no diagnosis
Not taken seriously by the doctors even adressed to a psychiatrist
Lack of medical knowledge on PIDs
Difficult to find doctors who know about PIDs
Lack of immunologists
Lack of Adult immunologists experts in PIDs
PIDs, and especially CVIDs, are ignored by most curriculas in many countries
Genetic counselling
Diagnostic Needs
ACCESS
Timely and accurate diagnosis
A network of expertise centres
MEDICAL PRACTICE
Reevaluation of diagnosis in time given the progress in the field (including the possibility of genetic testing)
When an indication for psychiatric drugs, need of psychiatry consultation
SUPPORT & ADVOCACY
Patient advocacy organisations
Stakeholders’ cooperation
DIGITAL HEALTH
Registries
Data sharing and interoperability
COMMUNICATION & COORDINATION
International Cooperation
HEALTHCARE PROFESSIONALS AWARENESS & EDUCATION
Need of Immunologists for children and adults (immunology not always considered as a subspeciality)
A range of medical specialists knowing CVIDs, including biologist, geneticist, infectiologist, psychologist, …
Immunology: More education for medical students, GPs, specialists at pre and postgraduation
Treatment description
IMMUNOGLOBIN
REPLACEMENT
THERAPY REGULAR
AND LIFELONG
VACCINES
(specific for pid)
ANTIBIOTICS
(prophylaxis
or on-demand)
SPECIFIC MEDICINES
addressing specific
symptoms
REQUIRED PRACTITIONERS
PID specialists
Organ specialists knowingPIDs
Specialised nurses
Other Healthcare
professionals
(physiotherapist,
nutritionist,
dentists…)
Psychologists /
Psychiatrists
Social workers
Treatment Challenges
ACCESS
Supply tensions on immunoglobulins (Subcutaneous (SC) and Intravenous (IV) )
Access to best tolerated immunoglobulin therapy (SC and IV)
Supply tensions/shortages on antibiotics
Access to efficient and innovative therapies (anti-infectious, targeted therapies, …)
Access to off label immune suppressive drugs
Access to home therapy
CHRONICITY
OF TREATMENT
Treatment not well tolerated
Distance to travel to reach out to hospital for regular treatment
Distance to travel to get the medicine from hospital for home therapy
ADDED RISK
Microbial multi resistance
QUALITY OF LIFE
Fatigue
Time taken on family, work and social life for reccurent treatment
PATIENT EDUCATION & EMPOWERMENT
Patient compliance to their chronic treatment
Treatment Needs
ACCESS
Continuous supply of needed medicines
Cost coverage of needed medicines
Patient’s and physician’s (not hospital’s) choice of treatment regarding clinics and quality of life
HEALTHCARE PROFESSIONALS AWARENESS & EDUCATION\
Adapted medical devices (especially in children)
To take pain into account when administrating the treatment
MEDICAL PRACTICE
Personalised treatment
Multidisciplinary teamsMultidisciplinary teams
To adress side effects of treatment
Protocols to adjust therapy dosing or to withdraw anti-inflammatory therapy
Protocols on oncologic treatment in PID
Emergency protocols for PID patients
QUALITY OF LIFE
Facilitating home therapy after patient’s choice (availability, trained professionals, patients’ training, …)
PATIENT
ENGAGEMENT
To understand their disease, cope with it, be compliant with treatment
RESEARCH
On new ways to fight off multi drug resistant bacterias
On vaccines
Follow up & Ageing description
FOLLOW-UP OF
SPECIFIC ORGANS
(ie lung, liver…)
ADDED CO-
MORBIDITIES
LINKED TO AGE
RE-EVALUATE
TREATMENT
REGULARLY
TRANSITIONNING
REGULAR LIFELONG
VISITS WITH A PID
SPECIALIST
(vary from every 3 months
to every 2 years or more)
REQUIRED PRACTITIONERS
PID specialists
Organ specialists knowing PIDs
Specialised nurses
Emergency ward
Other Healthcare
professionals
(physiotherapists, nutritionists, …)
Gerontologists
Psychologists
Social Workers
Follow up & Ageing Challenges
ACCESS
Access to treatment
Distance to travel to reach out to specialists
MEDICAL
FOLLOW UP
Onset of new symptoms and biomarkers
Lymphomas and other malignancies
Processes and organisation for transitioning from paediatric to adult ward
Management of co-morbidities
Immunologists for adults or internists knowing PIDs/CVIDs
Identifying other specialists knowing PIDs
Follow up & Ageing Needs
MEDICAL PRACTICE
A range of medical specialists knowing CVIDs
Transitioning programmes for adolescent and aging persons
Follow-up protocols
COMMUNICATION AND COORDINATION
Communication between local hospitals/GPs and reference centres to ensure an optimal environment for the management of the condition and emergencies
Multidisciplinary team taking a holistic approach
DIGITAL HEALTH
Telemedicine