Abstract:
Introduction. Familial Mediterranean fever (FMF) is the
most frequent autoinflammatory disease caused by mutations of MEFV gene encoding pyrin. Aim. To describe the
evolution of FMF with a particular vascular involvement.
Materials and methods. A case a patient of Druze descent. Results. A 17 y.o. male patient presents with pain
and hemorrhagic rash of the left lower limb. The patient is
considered to be sick from the age of 11: after playing football the child started developing pain in the left leg (soft
tissue) and abdominal pain, fever (38-39°C), malaise for 1
month. The leg was inflamed for 3 months. X-ray showed
bony abscess, for which the patient was given Amoxicillin
for 3 months. After 5 months, the opposite leg got involved.
In 2 weeks petechia developed on the lower limbs. The rash
started on ankles and progressed upwards. Consequently,
the child was diagnosed with small vessel vasculitis (IgA).
The child was hospitalized and given corticosteroids 60 mg
for 3 months. Genetic testing for FMF showed 2 mutations
(FMF-V726A and FMF-E148Q). The child developed obesity,
growth retardation from corticosteroid use. He continued
having abdominal pain and fever twice a month while he
was on colchicine 0.5 mg daily. The patient stopped having
FMF attacks once he started canakinumab (a human antiIL-1β monoclonal antibody neutralizing IL-1β signaling
– therefore preventing the acute inflammatory response
following aberrant inflammasome assembly in pyrin mutations). Conclusions. FMF patients may develop vasculitis,
IgA deposit being the most frequent one. FMF is a potentially debilitating disease with a poor response to conventionally used colchicine and corticosteroids. High doses of
corticosteroids should be avoided in pediatric population.
Biologic therapy should be prompted in severe cases as early as possible in the course of disease.
