(MIM 251170)

Rare. Autosomal recessive transmission of mutations in the MVK gene (on 12q24)  which codes for mevalonate kinase, an enzyme involved in the synthesis of cholesterol and isoprenoids.

The clinical spectrum of abnormalities that result is very wide and varies depending on the residual activity of the enzyme:

-        some patients are asymptomatic (very rare)

-        the severe form is mevalonic aciduria: psychomotor retardation, cataracts, facial dysmorphism, ataxia, cerebellar hypoplasia, recurrent febrile episodes.

-        another form is the hyperimmunoglobulinemia D syndrome: recurrent febrile episodes during 3-5 days occurring every 4 to 6 weeks, accompanied by abdominal pain, vomiting and diarrhea with arthralgias; it was formerly called: periodic fever of Dutch type.

It is actually an autoinflammatory multisystem disorder of metabolic origin the diagnostic criteria of which is an abnormal increase in the concentration of mevalonic acid in urine.

Possible clinical manifestations:

-        onset from the age from 1 day to 20 years: the first signs occur before 6 months of age in 60% of patients.

-        recurrent febrile episodes with or without diarrhea, skin rash, multiple lymphadenopathy, skin lesions, lesions rheumatic (erosive polyarthritis), splenomegaly, Sjogren's syndrome

-        macrophagic activation syndrome

-        immunodeficiency with recurrent bacterial infections.

There seems to be an increased risk of developing renal angiomyolipomas.

Treatments: in addition to NSAIDs for musculoskeletal pain and fever: cochicine, anakinra (IL-1 receptor antagonists), etanercept (TNF inhibitor), adalimumab (monoclonal anti IL1β antibody).

Anesthetic implications:

susceptibility to infections, side effects of the medical treatment.

References:

-         Bader-Meunier B, Florkin B, Sibilia J et al. 
Mevalonate kinase deficiency : a survey of 50 patients. 
Pediatrics 2011; 128: e152-9.

Updated: January 2019