Majeed syndrome

[MIM 609 628]

Incidence: < 1.106, mainly described in children of Arab origin. Autosomal recessive  transmission of a  mutation in the  LPIN2 gene (18p11.31) coding for phosphatase phosphatidate LPIN2 (Lipin-2), a protein that intervenes in the lipid metabolism and negatively regulates NLRP3 inflammasomes.


The result is an auto-inflammatory disease with


-        an  onset between one month and eight years of age

-        bone pain similar but more severe than in chronic multifocal osteomyelitis with short remissions and more frequent exacerbations

-        frequent fever, joint pain, bone age delay, growth retardation, hepatomegaly, adult short stature and flexion contractures

-        AND hypochromic microcytic anemia with dyserythropoiesis

-        an inflammatory neutrophilic dermatosis (Sweet syndrome) in some cases.


Treatments: disappointing (NAID's, corticosteroids): trials are underway with interferon-1 beta inhibitors (IL-1b).


Anesthetic implications: 

antibioprohylaxis, drug interactions with the treatment (corticotherapy).


References:

-        Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM et al.
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). 
J Med Genet 2005; 42: 551-7.


Updated: February 2021