The journey of a patient
Familial Mediterranean Fever
Meet Amira, she is a patient with Familial Mediterranean Fever (FMF), an autoinflammatory genetic disease characterized by recurrent episodes of fever and painful inflammation. It is diagnosed based on clinical symptoms, with genetic testing used to confirm the diagnosis.
Although FMF is most commonly found in people of Mediterranean descent, it can affect individuals from any background and age group. The symptoms can significantly impact a person’s daily life, including their ability to work, study, and engage in social activities. FMF remains a lifelong condition that requires ongoing care and understanding.
Symptoms description
GENERAL
PRACTITIONER
Low-grade temperatures
High fevers (not always!)
Swollen jaw/jaw pain
Fatigue
Night sweats
Hot/cold body partsInsomnia
Weight issues
Nose bleeds
Occasional canker sores
CARDIOLOGY
High blood pressure
Tachycardia
Pericarditis
HEMATOLOGY
Anemia
GASTRO-
ENTEROLOGY
Chronic abdominal pain
Bloating
Severe abdominal pain
Intestinal blockages
Diarrhea
Nausea/vomiting
Liver and spleen swelling
NEPHROLOGY
Kidney pain
Blood in the urine
Frequent urination
Painful urination
UROLOGY
Fertility issues
Scrotal swelling
ORTHOPEDIC
Carpel tunnel
(wrists and hands)
Plantar fasciitis
OPHTHALMOLOGY
Eye issues
Dry eye
Episcleritis
NEUROLOGY
Headaches
Muscle weakness (tingling, numbness)
Light and sound sensitive
Seizures
Mood swings
Anxiety
Depression
PULMONOLOGY
Respiratory issues
Shortness of breath
Dry cough
Asthma
Pleuritis (chest pain)
DERMATOLOGY
Rashes
Bruising
Skin problems/eczema
Erysipela-like
Henoch-Schönlein purpura
IMMUNOLOGY
Drug intolerances
Food intolerances
Infections
GYNECOLOGY
Painful periods
Fertility issues
RHEUMATOLOGY
Joint pain/swelling
Lower back pain
Shoulder pain
Leg pain/blocked hip
Fluid in the organs or joints (oedema)
Chronic pain
Tendinitis
Synovitis
Swollen
lymph nodes
Muscle pain
REQUIRED PRACTITIONERS
General practitioner
Pediatrician
A&E/Emergency
Symptoms Challenges
ACCESS TO MEDICAL CARE
Finding knowledgeable doctors who recognise autoinflammatory diseases
Doctors don’t recognise the pattern of disease symptoms easily
Lack of collaboration between specialists and doctor/clinics
ONSET AND SYMPTOMS
Onset ranges from baby to elder
Symptoms vary and change overtime
Overlaps with other disease categories
PAIN
The pain is severely underestimated
Lack of access to pain meds
Ability to access appropriate testing and treatment
SOCIAL-FINANCIAL BURDEN
Doctor shopping to find care
Travel expenses to see specialist
Unable to remain employed due to debilitating symptoms
Difficulty getting disability
DIAGNOSIS ODYSSEY
Risk of permanent organ damage with elevated SAA
Symptoms are treated instead of the disease
MENTAL HEALTH
Not taken seriously with life-impacting symptoms
Blamed as being psychosomatic
Labeled as a drug-seeker
Anxiety
Depression
Fatigue
Symptoms Needs
GENETIC TESTING
Easier access to genetic testing
Full access to genetic results incl. benign variants report
OUTREACH & ADVOCACY
More research with patient involvement (i.e. surveys, medication efficacy, inflammatory markers, pain control)
Patient disease needs acknowledgement by medical teams, schools, family, friends, work colleagues, etc.
DOCTOR TRAINING & COLLABORATION
AID training needs to be provided to clinicians
General practitioners should be willing to work in close collaboration with a variety of specialists required for comprehensive care
Increased awareness by the medical communities
Referral of patients to specialists must be done in a timely manner
EDUCATION/WORK
Homeschooling for kids who can’t attend school
Remote working accommodations for adults
Diagnostic description
BLOOD
Elevated CRP, ESR, SAA
(not always!)
Elevated liver enzymes
Low ferritin
Vitamin D deficiency
Vitamin B12 deficiency
Immunoglobulins too
low or too high
Elevated cytokines
High cholesterol
Proteinuria
High white &
red blood cells
OTHER TESTS
Endoscopy
Colonoscopy
SCANS/ULTRASOUND
Sinovitis/fluid build-up
Joint inflammation
Organ inflammation
COMORBIDITIES
Infections &
immunodeficiency
Epilepsy/seizures
Sicca syndrome
Hashimoto’s
Behcet’s
PsoriasisI
BDHypermobility/EDS
Restless legs syndrome
Sleep apnea
Raynaud’s disease
Von Willebrand disease
Factor V Leiden
Factor VII deficiency
Factor X deficiency
Sinusitis/post-nasal drip
Postural orthostatic
tachycardia syndrome
(POTS)
UTI (urinary infections)
Genital yeast infection
ADHD
Idiopathic intracranial
hypertension
Fibromyalgia
Psoriatic arthritis
Ankylosing spondylitis
Splenomegaly
Hepatomegaly
Non-alcoholic fatty liver
REQUIRED PRACTITIONERS
Multiple specialties:
Rheumatologist
Infectious disease
Immunologist
General practitioner
Cardiologist
Pulmonologist
Dermatologist
Gastroenterologist
Neurologist
Haematologist
ENT
Physiotherapist
Endocrinologist
Ophthalmologist
Nephrologist
Gynecologist
Urologist
Diagnostic Challenges
DIAGNOSIS ISSUES
Diagnostic timeframe ranges from 3 years for children to 14+ years for adults
Diagnosis through to incidental finding
The odyssey begins after diagnosis
Colchicine trial may be helpful to confirm the diagnosis
Genetic testing can be key during the diagnostic process
CLINICAL CHALLENGES
Bloodwork may not capture inflammation.
Adult patients often outgrow their fevers.
MISCONCEPTIONS
Only people of certain ethnic origins can have FMF (blond and blue-eyed people can have FMF too).
Two mutations are needed for an FMF diagnosis (single carriers face diagnostic delays).
Elevated inflammatory markers are needed for a diagnosis (not all patients have elevated markers).
High fevers must present in all FMF patients (fever is not common in adults).
GASLIGHTING
Patients not taken seriously
Often sent to psychiatric counselling
Hypochondriac diagnosis
MULTIPLE DOCTORS & MISDIAGNOSES
On average, a patient seeks help from 7 to 10 doctors
Multiple misdiagnoses: mental illness, appendicitis, asthma, osteoarthritis, fibromyalgia, chronic intestinal inflammation/IBS, chronic fatigue, chronic pain syndrome, drug seeker/addict, COPD, colon cancer, anorexia, assumed stomach ulcers, accused of ingesting poison, diabetes, celiac disease
Patient remains unsupported
Difficult identifying comorbidities
Diagnostic description
ACCESS TO MEDICAL CARE AND SUPPORT
To have extensive medical care
To have medical explanation of FMF
To have access to labs during a flare
To have a medical explanation of lab results
To have access to telehealth during a flare
To have an appropriate FMF trained clinician
ACCESS TO MEDICAL TREATMENT
To have limited access to biological medications due to prohibited cost or availability within a country
To trial multiple colchicine brands
COMMUNITY & INFORMATION
To have access to medical information on FMF
To have access to a supportive community of like patients
Treatment description
DISEASE
MEDICATIONS
Colchicine
(try several brands)
KineretIlaris
Actemra
Cortisone
Rilonacept
(US only)
PAIN
MEDICATIONS
NSAIDs:
Ibuprofen
Mefenamic acid
Novalgin
Opioids:
Tramadol
Palexia
Oxycodone
Morphine
REQUIRED PRACTITIONERS
Rheumatologist
Immunologist
General practitioner
Socio-therapist
(offers advocacy s
upport to patients)
Treatment Challenges
LIFE ISSUES
Lack of understanding by employers and authorities of the disease
Despite treatment, patients are often unable to lead a normal life
Patients living on a limited budget are often required to travel long distance to see a specialist; these costs are not covered
MEDICATION ISSUES
Lack of pain management
Doctors often under-medicate patients especially when in pain
Difficulty accessing biological medications
DISEASE PROTOCOL & GUIDELINES
Lack of medical documentation to support the flare-cycle severity of the disease
Incorrect treatment protocol or not enough medication based onlacking medical research
No medical team collaboration
Treatment Needs
MEDICAL EDUCATION
Requires specialists with the necessary knowledge and experience
To have a doctor who listens
TREATMENT
Pain medications are often not strong enough to manage the patient’s flare
Need additional and effective treatments developed for FMF
DISEASE BURDEN
Financial burden of over-the-counter medications not covered by insurance
Triggers need to be identified and reduced (avoid physical exertion and stress)
Follow up & Ageing description
EVERY 3-6 MONTHS
FOLLOW-UP
TRANSITIONING
FROM PEDIATRICS
TO ADULT DOCTORS
DISEASE MAY
MANIFEST DIFFERENT
OVER TIME
FOR SEVERE
FLARES, A&E
REQUIRED PRACTITIONERS
Rheumatologists
Immunologists
General practitioners
A&E
Follow up & Ageing Challenges
DISEASE PRESENTATION VARIABILITY
Proving that FMF is variable and can become worse with aging
PATIENT BURDEN
Often long-distance travel for follow-up of medical appointments
Follow up & Ageing Needs
LACK OF SPECIALISTS
Not enough rheumatologists or immunologists treating FMF
Finding a doctor with the necessary knowledge and close to where the patient lives
FLARE MANAGEMENT
To have an emergency plan
Updated emergency guidelines for FMF
OTHERS
More awareness
More knowledgeable doctors
More research
Better collaboration
More understanding