Table 3

Preliminary Autoinflammatory Disease Damage Index (ADDI) including glossary of terms

Preliminary ADDI
Definition of damage: Damage is defined as persistent or irreversible change in structure or function that is present for at least 6 months. Damage items should not be scored if they are attributed to ongoing disease activity. Damage may be the result of prior disease activity, complications of therapy or comorbid conditions that developed after the onset of autoinflammatory disease signs and symptoms. If damage has been present for longer than 6 months, but later resolves, it should still be scored in order to capture the damage that was present in the individual for that time period
Damage itemGradingPoints
ReproductiveMax. 3
Sub/infertility2
Amenorrhoea1
Renal/amyloidosisMax. 6
AmyloidosisLimited amyloidosis
Extensive amyloidosis
2
3
Proteinuria1
Renal insufficiencyModerate renal insufficiency
Severe renal insufficiency
2
3
DevelopmentalMax. 3
Growth failure2
Puberty delay1
SerosalMax. 1
Serosal scarring1
NeurologicalMax. 6
Developmental delay*2
Cognitive impairment3
Elevated intracranial pressure2
Central nervous system involvement3
EarsMax. 2
Hearing lossModerate hearing loss of better ear
Severe hearing loss of better ear
1
2
OcularMax. 3
Ocular involvementMild ocular involvement of better eye
Moderate ocular involvement of better eye
Severe ocular involvement of better eye
1
2
3
MusculoskeletalMax. 4
Joint restriction2
Bone deformity2
Osteoporosis1
Musculoskeletal pain1
Glossary of terms
Infertility: A disease of the reproductive system defined by the failure to achieve a clinical pregnancy after ≥12 months of regular unprotected sexual intercourse, not due to known disorders in the unaffected partner.
Amenorrhoea: Primary amenorrhoea: absence of menarche at the age of 16 years or absence of menarche 5 years after thelarche in a female. Secondary amenorrhoea: absence of the menses for six consecutive months or more in a female who previously had menstrual cycles.
Limited amyloidosis: Symptomatic amyloidosis affecting one organ and confirmed by examination of tissue sections by Congo red dye or serum amyloid P component (SAP) scintigraphy.
Extensive amyloidosis: Symptomatic amyloidosis affecting more than one organ and confirmed by examination of tissue sections by Congo red dye or SAP scintigraphy.
Proteinuria: Persistent urinary protein to creatinine ratio of >20 mg/mmol in the first morning void and/or a daily protein excretion of >0.3 g/24 hours, or urine albumin to creatinine ratio of >15 mg/mmol.
Moderate renal insufficiency: Glomerular filtration rate (GFR) between 15 and 60 mL/min/1.73 m2.
Severe renal insufficiency: GFR <15 mL/min/1.73 m2, dialysis or transplantation.
Growth failure: Defined as the presence of at least two of the three features:
– lower than the 3rd percentile height for age
– growth velocity over 6 months lower than the 3rd percentile for age
– crossing at least two centiles (5%, 10%, 25%, 50%, 75%, 90%, 95%) on growth chart
For patients older than 18 years: Pathological short stature (eg, below 3rd percentile for normal ethnic population).
Puberty delay: A Tanner stage below –2 SDs for age.
Serosal scarring: Adhesions or fibrosis affecting pericardium, pleura, peritoneum and/or retroperitoneum, supported by imaging techniques, endoscopy or surgery.
Developmental delay: Failure to reach age-appropriate developmental milestones, including language/speech, motor, social/emotional and cognitive milestones. As soon as there is any delay in one of the development categories, this item has to be scored.*
Cognitive impairment: Requirement of special education because of cognitive impairment or IQ <70 as defined by neuropsychological assessment (eg, Wechsler Intelligence Scale for Children (WISC)) or other age-appropriate equivalents.
Elevated intracranial pressure: Signs and/or symptoms of elevated intracranial pressure supported by appropriate techniques. †
Central nervous system involvement: Focal deficits (gross and/or fine sensorimotor), diffuse deficits (eg, memory, behaviour), seizures and spinal cord symptoms.
Moderate hearing loss: Sensorineural hearing impairment confirmed by audiometry or another age-appropriate technique without requirement of hearing aids or a cochlear implant.
Severe hearing loss: Sensorineural hearing impairment confirmed by audiometry or another age-appropriate technique requiring hearing aids or a cochlear implant.
Mild ocular involvement: Ocular damage (eg, optic nerve atrophy, elevated intraocular pressure or cataract) documented by an ophthalmologist, without visual impairment.
Moderate ocular involvement: Ocular damage (eg, optic nerve atrophy, elevated intraocular pressure or cataract) documented by an ophthalmologist, resulting in visual impairment.
Severe ocular involvement: Ocular damage (eg, optic nerve atrophy, elevated intraocular pressure or cataract) documented by an ophthalmologist, resulting in legal blindness.
Joint restriction: Fixed limitation in the normal range of motion of joints, with or without destructive arthropathy or avascular necrosis.
Bone deformity: Bone deformation or overgrowth on clinical examination and/or imaging studies.
Osteoporosis: Reduced bone mineral density with vertebral collapse and/or pathological fractures confirmed with imaging, which may include bone densitometry. Requires both evidence of decreased bone density and fracture, ‘low bone density’ by itself is insufficient
Musculoskeletal pain: Non-inflammatory musculoskeletal pain impairing activities of daily living.
  • *Only for paediatric patients.

  • †Such as funduscopy, neuroimaging or lumbar cerebrospinal fluid (CSF) pressure measurement.