Is Kabuki syndrome associated with arthritis or other rheumatology diseases?

Kabuki Syndrome and Rheumatological Manifestations

Yes, Kabuki syndrome is associated with autoimmune disorders including arthritis and other rheumatological conditions. 1

Autoimmune Manifestations in Kabuki Syndrome

• Kabuki syndrome has been documented to have autoimmune manifestations that are primarily autoimmune in nature, unlike the arthritis seen in conditions such as Kawasaki disease 1
• Multiple autoimmune disorders have been reported in patients with Kabuki syndrome, suggesting an underlying immune dysregulation 2
• The autoimmune conditions associated with Kabuki syndrome include:
  • Idiopathic thrombocytopenic purpura (ITP) 2
  • Hemolytic anemia 2
  • Thyroiditis 2
  • Vitiligo 2
  • Arthritis 1

Clinical Characteristics of Autoimmune Disorders in Kabuki Syndrome

• The autoimmune manifestations in Kabuki syndrome often appear later in childhood rather than being present as congenital malformations 2
• Some patients with Kabuki syndrome demonstrate a chronic and relapsing course of their autoimmune conditions, particularly with ITP 2
• Hypogammaglobulinemia has been observed in some Kabuki syndrome patients with autoimmune disorders, which may contribute to immune dysregulation 2

Distinguishing Features from Other Conditions

• The joint involvement in Kabuki syndrome differs from that seen in Kawasaki disease, where arthritis typically occurs during the acute phase of illness 3, 4
• In Kawasaki disease, arthritis commonly involves multiple joints including small interphalangeal joints and large weight-bearing joints, with approximately one-third of patients affected 4, 5
• Unlike the transient arthritis seen in Kawasaki disease that typically resolves with standard treatment, the autoimmune manifestations in Kabuki syndrome may have a more chronic course 4, 2

Clinical Implications

• Patients with Kabuki syndrome should be monitored for the development of autoimmune conditions throughout childhood 2
• The presence of unexplained joint pain, swelling, or other signs of inflammation in a patient with Kabuki syndrome should prompt evaluation for autoimmune arthritis 1, 2
• The management of autoimmune manifestations in Kabuki syndrome may be complicated by the potential for chronic and relapsing courses 2

Common Pitfalls and Caveats

• Autoimmune disorders in Kabuki syndrome may be overlooked if clinicians focus exclusively on the congenital malformations and developmental aspects of the syndrome 2
• The presence of hypogammaglobulinemia in some patients may affect the immune response and should be considered when evaluating and treating autoimmune manifestations 2
• Distinguishing between different causes of arthritis (infectious, autoimmune, etc.) is important for appropriate management in these patients 1, 2