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AB1004 Two Cases of Hyperimmunoglobulin D Syndrome with Mefv Gene Mutations
  1. M. Çakan1,
  2. N. Aktay Ayaz1,
  3. G. Keskindemirci2
  1. 1Pediatric Rheumatology Clinic
  2. 2Clinic of Pediatrics, Kanuni Sultan Suleyman Research and Training Hospital, Istanbul, Turkey


Background Hyperimmunoglobulin D syndrome (HIDS) is a rare periodic fever syndrome. Fever attacks usually begin during the first year of life and last for 3-7 days. Also arthralgia, arthritis, abdominal pain, mouth ulcers, rash, and cervical lymphadenopathy may be seen during attacks. The disease is caused by mutations in the mevalonate kinase (MVK) gene. There is no proven treatment of the disease, but colchicine and corticosteroids-on-demand are suggested as initial treatments. Familial mediterranean fever (FMF) is the prototype of the periodic fever syndromes and it is caused by mutations in the MEFV gene. Fever and serositis attacks last 1-3 days and colchine is the standart treatment for all cases. It's thought that having more than one periodic fever syndrome gene mutations may alter the phenotype. Here we report two cases of HIDS patients that were also carrying MEFV gene mutations.

Case 1 A 3-year-old boy was admitted with the complaint of recurrent fever. The fever had started when he was 4 months old. It was lasting for 4-7 days and was repeating every 1-2 months. In the last 3 attacks the mother was also describing urticarial rash and diarrhea. During febrile periods the patient had extremely high acute phase reactants (CRP: 234 mg/L, ESR: 120 mm/hr). MEFV mutation analysis showed heterozygote R761H mutation and colchicine treatment was started. But under colchicine treatment he had two attacks and the patient was referred to us for consultation. The history of the patient was more suggestive for HIDS and on MVK gene analysis compound heterozygote mutations (N205D and V377I) were found. The patient is being followed for 5 months and currently using colchicine and oral prednisolone during attacks. He had 2 attacks during 5 months that lasted 1 day after prednisolone use and biologic treatment is considered for this case.

Case 2 A 3.5-year-old boy was admitted to hospital with the complaints of fever and convulsion. The patient had fever for 3 days and on physical examination he had hepatosplenomegaly, cervical lymphadenopathy and macular rash on the trunk. Medical history was remarkable for recurrent fever attacks that started around one years old. Each attack was lasting for 5-7 days and was repeating every 2-3 months. He also had two simple febrile convulsions during previous attacks. He had anemia (hemoglobin: 8.1 g/dl), thrombocytopenia (platelet: 108.000/mm) and high acute phase reactants (CRP: 182 mg/L, ESR: 100 m/hr). Broad-spectrum antibiotics were initiated after obtaining cultures that did not yield any microorganism. Malignant cells were not observed on bone marrow examination. The fever lasted for 3 days and cytopenias resolved after one week. Mutation analyis for FMF and HIDS were studied and showed heterozygote M680I mutation on MEFV gene and homozygote V377I mutation on MVK gene. Colchicine treatment was started to see the response of the patient to the treatment. The patient is being followed for one year and had only one attack during this period. By colchicine treatment hepatosplenomegaly was regressed and laboratory parameters are normal.

As a conlusion, as in our cases, children presenting with symptoms of periodic fever syndromes, more than one diagnosis is possible. Although not all patients with HIDS respond well to colchicine, it should be tried to see the response of the patient.

Disclosure of Interest None declared

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