P02-005 - Overlap of FMF and HIDS in one Arabic family

Case report An 8-year-old female presented with episodes of fever, abdominal pain, vomiting, and arthralgia lasting 3-5 days for 1-year duration suggestive of FMF. Atypical FMF features included longer episodes of fever and partial response to colchicine. Family history revealed HIDS in an 18 years old brother. He presented with episodes of fever, abdominal pain, vomiting, diarrhea, skin rash, lymphadenopathy, and febrile seizures since 1 year of age and was treated as clinical FMF with colchicine for 4 years with poor response. Genetic testing for HIDS done at 7 years of age showed homozygosity of V377I mutation. He was not responsive to Statins but became asymptomatic after puberty. At 17 years of age he developed short episodes of fever and abdominal pain more consistent with FMF. He was responsive to bursts of prednisone during episodes but not compliant with colchicine due to severe diarrhea. Genetic testing was done for both patients and asymptomatic family members by sequence analysis of entire MEFV and MVK as well as TNFRSF1A, PSTPIP1, IL1RN and LPIN2 coding regions and splice sites. Asymptomatic parents are carriers of V377I/MVK mutation. The father is a compound heterozygote for two complex MEFV mutations, E148Q/P369S/R408Q and E167D/ F479L whereas the mother is a compound heterozygote for M680I and the complex allele E148Q/P369S/R408Q. Both of our patients are homozygous for V377I MVK mutation, the girl is compound heterozygote for E148Q/ P369S/R408Q and E167D/F479L MEFV mutations whereas the boy is compound heterozygote for E148Q/ P369S/R408Q and M680I.