Table 2 Summary the treatment of tocilizumab for MKD
case | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|
Ancestry | Faroe Islands | ND | ND | ND | N. European | N. European | North African | Northern European | South Asian | European | European |
Age | 12 Y | 36 Y | 13 Y | ND | 28Y | 24Y | 33Y | 25Y | ND | 18Y | 43Y |
Gender | F | F | F | ND | M | M | M | F | M | ND | M |
Onset of symptoms | 3 months | 23 Y | infancy | ND | < 1Y | < 1Y | 1y | < 1Y | ND | 4Y | 2Y |
Gene mutation | p. V377I/c.417insC | p. V377I/c.417insC | p.V377l and p.H380R | p.V377I/I268T | ND | ND | p.N205D and p.G336S | p.I268T/V377I | p.S52N/D386N | p.V377I/I268T | p.V377I/L234P |
Clinical phenotype | recurrent episodes of fever, pallor, fatigue, lymphadenopathy, abdominal pain, oral ulceration, arthralgia/myalgia of the lower limbs | episodic fever, abdominal pain, lymphadenopathy, hepatosplenomegaly | fever, headache, mouth ulcers, arthralgia, abdominal pain, cervical lymphadenopathy | ND | ND | ND | fever, abdominal pain, vomiting, otitis, odynophagia episodes, proteinuria, AA amyloidosis | fever, lymphadenopathy, gastrointestinal disturbance, rash, joint pain, sore throat | ND | ND | ND |
serum IgD level | ND | 750 kU/L | 198,000 U/L | ND | ND | ND | ND | ND | ND | ND | ND |
MK activity | ND | 0 pmol/min/mg | ND | ND | ND | ND | ND | ND | ND | ND | ND |
urine mevalonic acid/creatinine ratio | ND | 3.0 mmol/moL | ND | ND | ND | ND | ND | ND | ND | ND | ND |
Treatment prior to TCZ | Etanercept, anakinra | NSAIDs, simvastatin, anakinra | colchicine, corticosteroids, etanercept, anakinra | anakinra | NSAIDs, anakinra, etanercept | NSAIDs, anakinra | Colchicine | IL-1 blockade, etanercept | anakinra | anakinra, etanercept | anakinra, etanercept |
TCZ dose (mg/kg) and route of administration | 8 IV | 8 IV | 8 IV, 4 IV, 7 IV | 8 IV | 8 IV | 8 IV | ND | ND | ND | ND | ND |
Frequency of administration (weeks) | 2 | 4 | 4 | 4 | 4 | 4 | ND | ND | ND | ND | ND |
Duration of treatment (months) | > 24 months | 5 years | 20 months | 5 months | 24 months | 13 months | ND | ND | ND | ND | ND |
Adverse events | NO | ND | recurrent upper respiratory tract infections (URTIs) | ND | ND | ND | ND | ND | ND | ND | ND |
Outcome Clinical | CR | PR | CR(CR at dose of 8 mg/kg but due to adverse events dose reduced, ultimately with stable clinical and serological status on 7 mg/kg IV every 4 weeks) | CR | CR | CR | CR | CR | PR | CR | PR |
Reference | Rafiq et al.(2018) [7] | Musters et al.(2015) [8] | Shendi et al.(2014) [9] | Stoffels et al.(2015) [10] | Lane et al.(2015) [11] | Lane et al.(2015) [11] | Rodrigues et al.(2020) [12] | Lane et al.(2013) [13] | Lane et al.(2013) [13] | ter Haar et al.(2016) [14] | ter Haar et al.(2016) [14] |