Are carriers for MEFV mutations "healthy"?

OBJECTIVE: We aimed to compare whether carriers for the MEFV mutations display an increase or decrease in certain features. We compared the frequency of a number of inflammatory symptoms and diseases in carriers and a control population. METHODS: A questionnaire was designed to be applied to parents of children with FMF and a control group of parents. Clinical features and some diseases including the frequency of febrile episodes, abdominal pain, arthralgia, prophylaxis with penicillin, acute rheumatic fever, rheumatoid arthritis, vasculitis, spondyloarthropathy, urinary tract infection, asthma, allergy, irritable bowel disease, appendectomy and tonsillectomy were inquired. 676 parents of 440 children with FMF were surveyed in this study. Controls (n: 774) were selected as parents of healthy children. RESULTS: The presence of febrile episodes more than four per year, arthralgia, past diagnosis for acute rheumatic fever, rheumatoid arthritis and prophylaxis of penicillin, acute rheumatic fever, and rheumatoid arthritis were significantly higher in asymptomatic parents for the MEFV mutations compared to controls. The frequency of allergy was found to be significantly lower in the asymptomatic parents as compared to controls. There was no significant difference at the frequency of urinary tract infection and tonsillectomy between the parents of the patents and controls. CONCLUSIONS: We suggest that one MEFV mutation may indeed be conferring a heightened inflammation as suggested by the increased frequency in inflammatory symptoms. The carrier status for MEFV mutations seem to be unique, in that they cause an alteration in the state of "health".

Etiology and management of alimentary tract ulcers in pediatric intestinal transplantation patients.

Patients who undergo intestinal transplantation encounter several complications in the posttransplant period, one of them being ulcer formation in the alimentary tract. During postoperative endoscopic monitoring of 112 pediatric intestinal transplantation patients at our institution, we identified chronic ulcer formation in 11 patients. There were no common or defining demographic or clinical variables that were found in the patients with ulcers. The ulcers could be located within the allograft or in native tissue. Biopsies were obtained from the ulcer edge and the intervening mucosa as well as an evaluation of possible infectious agents. The most common changes in the ulcers were compatible with Epstein-Barr virus-associated posttransplant lymphoproliferative disorder (PTLD; seven cases), acute rejection (six cases), and less commonly, infectious causes (one case). These changes could occur concomitantly and retrospective analysis after therapy showed that the ulcers could have multiple etiologies. Directed biopsies of ulcer edges often displayed morphological changes compatible with acute rejection of the graft, although some biopsies of the intervening mucosa did not show similar changes. Some patients treated based on the changes within the intervening mucosa responded well and led to resolution of the ulcers. Our findings demonstrate that PTLD and acute rejection are the most common causes of chronic ulcer formation and that biopsy samples should be collected simultaneously from both the ulcer edge and intervening mucosa since pathological changes can vary depending on the underlying cause(s). Infectious agents were rarely present but could be seen superimposed with the underlying cause.

Acanthamoeba infection in lung transplantation: report of a case and review of the literature.

A 49-year-old woman underwent bilateral lung transplantation for advanced idiopathic pulmonary fibrosis. During the postoperative period she received immunosuppressive medications as well as corticosteroids. Aspergillus fumigatus grew from a sputum sample, and she was treated with nebulized amphotericin. She was discharged on tacrolimus and prednisone. After initially doing well, she required re-hospitalization for treatment of cytomegalovirus and Pseudomonas aeruginosa pneumonia. She was treated with ganciclovir and cefepime and, after a 2-week hospitalization, was discharged. Seven months after transplantation she developed progressive sinusitis, treated with antibiotics and sinus debridement surgery. Aspergillus organisms were recovered and, at the periphery of the tangled masses of Aspergillus hyphae, numerous amebic cysts were also identified, which were morphologically consistent with Acanthamoeba spp. Subsequent electron microscopy and immunofluorescent staining confirmed this impression. She was initially treated with intravenous amphotericin, later changed to voriconazole and caspofungin. Debridement of the sinuses 3 weeks later revealed fungal hyphae but no amebae. Infections with Acanthamoeba have rarely been reported in lung transplantation but have been recognized in bone-marrow and renal transplant patients, and have been lethal in many cases, particularly in patients with immunosuppression due to human immunodeficiency virus infection. More recently, aggressive antimicrobial therapy has resulted in successful outcomes, as discussed herein.