Table 5.

Treatment of Manifestations in Individuals with LPIN2-Related Majeed Syndrome

Manifestation/ConcernTreatment 1Considerations/Other
Chronic multifocal or single-site sterile osteomyelitis Anti-IL-1 therapy:
  • Anakinra 1.5mg/kg/day w/titration as needed
  • Canakinumab 2mg/kg every 4 or 8 wks
Anti-IL-1 therapy is considered the anti-inflammatory drug of choice but may not be universally available.
Non-steroidal anti-inflammatory drugs
Corticosteroids
(e.g., prednisone 1 mg/kg/day)
MethotrexateStandard dosage typically managed by rheumatologist
Congenital dyserythropoiesis Blood transfusion for severe anemia
  • This finding may improve w/anti-inflammatory treatment.
  • Splenectomy may be considered.
Dermatosis Anti-inflammatory medication (See above.)
Joint contractures /
Motor delay 		Standard supportive therapies, incl PT &/or OTThis finding may improve w/anti-inflammatory treatment.

Anti-IL-1 = anti-interleukin-1; PT = physical therapy; OT = occupational therapy

1.

Anti-inflammatory treatment decreases inflammation and reduces flare ups.

From: LPIN2-Related Majeed Syndrome

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