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Aim: To characterize Familial Mediterranean Fever (FMF) in western Sweden, focusing on genotype, clinical picture, prevalence and age of onset as well as time to diagnosis. Methods: Patients with autoinflammatory diseases are continuously registered at the five main hospitals in Western Sweden. Case records of patients with FMF were analysed retrospectively. Population data on immigration was retrieved from Statistics Sweden. Results: Until 2008, 37 patients with FMF were identified. The prevalence among inhabitants of Turkish, Lebanese, Syrian and Iranian origin was 173, 124, 86 and 17/100 000, respectively. Median age at first symptoms was 4 years (range 3 month-37 years) and at diagnosis 10 years (range 2-44 years). Median time from first symptoms to diagnosis was 4 years (range <1 year-34 years). Among 32 patients screened for twelve common mutations, 75% were homozygotes or compound heterozygotes, 16% were heterozygotes and in 9% no mutation was found. In our cohort the frequencies of symptoms were fever 100%, peritonitis 92%, pleuritis 22% and arthritis 11%. Conclusions: The majority of patients with FMF present during childhood. The prevalence among immigrants in western Sweden is in the same range as in their country of origin. Time to diagnosis needs to be shortened by means of increased awareness of the disease. [ABSTRACT FROM AUTHOR]

Aim To characterize Familial Mediterranean Fever ( FMF) in western Sweden, focusing on genotype, clinical picture, prevalence and age of onset as well as time to diagnosis. Methods Patients with autoinflammatory diseases are continuously registered at the five main hospitals in Western Sweden. Case records of patients with FMF were analysed retrospectively. Population data on immigration was retrieved from Statistics Sweden. Results Until 2008, 37 patients with FMF were identified. The prevalence among inhabitants of Turkish, Lebanese, Syrian and Iranian origin was 173, 124, 86 and 17/100 000, respectively. Median age at first symptoms was 4 years (range 3 month-37 years) and at diagnosis 10 years (range 2-44 years). Median time from first symptoms to diagnosis was 4 years (range <1 year-34 years). Among 32 patients screened for twelve common mutations, 75% were homozygotes or compound heterozygotes, 16% were heterozygotes and in 9% no mutation was found. In our cohort the frequencies of symptoms were fever 100%, peritonitis 92%, pleuritis 22% and arthritis 11%. Conclusions The majority of patients with FMF present during childhood. The prevalence among immigrants in western Sweden is in the same range as in their country of origin. Time to diagnosis needs to be shortened by means of increased awareness of the disease. [ABSTRACT FROM AUTHOR]

Background: The prevalence of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is unknown. Although an uncommon condition, it is considered to be the most common autoinflammatory disease among children in many parts of the world. The knowledge of the consequences of the recurrent fever episodes for the child and its family are limited. This study explores the experiences of parents regarding the impact of the disease on the child's general well-being, the family's situation and how the family handles the associated challenges.Methods: A qualitative approach was used, applying a modified version of Grounded theory for design, data collection and analysis. Data was collected from two different sources: communication between parents of children with PFAPA in a closed Facebook group and face-to face interviews with one of the parents of children diagnosed with PFAPA (6 mothers and 2 fathers).Results: Parents described a lengthy process of how everyday life becomes affected by their child's recurrent fever episodes. This process is depicted in the following Grounded Theory core category: From uncertainty to gradually managing and awaiting recovery. The categories Uncertainty, Assurance, Gradually managing and Recovery describe the experienced illness trajectory. The illness representation illustrates the experiences/impacts of the periodic condition in the subcategories: Harmlessness-Severity, Disclosure of diagnosis, Impact on daily life and Regularity-Unpredictability. The children's well-being was highly affected by the symptoms during episodes. Parents experienced increased stress with constant fatigue, social constraints of family life and restricted career opportunities. Nevertheless, hope of recovery was constantly present.Conclusions: PFAPA is associated with a considerable burden on the child and the parents in daily life. Obtaining a diagnosis enables parents to move from a state of uncertainty towards a sense of coherence while awaiting recovery. Because of limited general knowledge of the condition and its impact on daily life, health care professionals need to become aware of the parents' efforts to mitigate the consequences of the recurrent episodes for the child and for the family as a whole. [ABSTRACT FROM AUTHOR]