NOMID Case Study
Patient insight: Quinn
Treated with KINERET since 2009.
“In Quinn’s case, within a matter of hours, the rash was gone. The pain, the discomfort, the irritability, everything about Quinn that had been for that whole year was gone.” —Colleen, Quinn’s mother
Individuals featured in this material have experience with KINERET and may no longer be on treatment.
Patient age at first visit: 6 months
Patient age at diagnosis and initiation of KINERET treatment: 12 months
Relevant history/physical exam
- Persistent urticaria-like rash
- Recurrent high fevers
- Failure to thrive (5th percentile for weight)
- Mild facial dysmorphia (frontal bossing, saddle nose)
- Mild developmental motor delays
Evaluation
Relevant lab tests during evaluation period
CRP: Ranged from 27 to 305 mg/L (normal <5 mg/L)
WBC: Ranged from 27.7 to 44.4 x 109/L (normal range 4-11 x 109/L)
Genetic testing: Negative for mutations in NLRP3/CIAS1 gene
Treating physician’s approach to evaluating Quinn:
1. Rule out infection and malignancy
- Referrals to infectious disease specialists and oncologists
- Extensive testing included lumbar punctures, colonoscopy, and bone marrow and skin biopsies
2. Consider autoinflammatory symptoms
- Based on Quinn’s age and the severity of her symptoms, NOMID was a strong possibility
Diagnosis
Treating physician suspected NOMID and decided to try KINERET
- Quinn had many of the symptoms associated with NOMID
- Other common symptoms (eg, hearing loss and conjunctivitis) were not present
- Quinn tested negative for NLRP3/CIAS1 mutation (mutation is absent in ~40% of cases)
- 2016 clinical diagnostic criteria for CAPS do not “mandate evidence of a disease-causing NLRP3 mutation”
Results with KINERET treatment
Quinn’s response to KINERET confirmed treating physician’s suspected diagnosis of NOMID
- CRP levels dropped from 300 mg/L to 3 mg/L overnight
- Rash and irritability/pain also improved
Quinn has been taking KINERET since 2009
- KINERET keeps Quinn’s NOMID symptoms under control
- Infections and stress still cause periodic flares
- Headache, fever, and fatigue are the primary symptoms
- Quinn periodically takes acetaminophen during flares
- Quinn is an active child who continues to meet age-appropriate developmental and growth milestones
- Quinn started to self-inject at 8 years old
This case represents one patient's experience. Individual outcomes may vary and are dependent on a patient's clinical history and profile, as well as their treating physician's discretion.
See the data
Expand Case Notes
age
NOTES
-
- Born prematurely (34 weeks gestation)
- Rash
- Fever
- Continued symptoms and
failure to thrive - Consultations with multiple
specialists
-
- Initial visit with treating physician
- Treating physician evaluation
- Included referrals to
more specialists
-
- Hospitalized for aseptic meningitis
- NOMID diagnosed
- KINERET treatment began
-
- Started self-injecting KINERET
-
- Continues KINERET treatment