Background Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent attacks of fever and pain, which is most common in those of Sephardic Jewish, Armenian, Turkish or Arabic descent. Colchicine is the mainstay of treatment for FMF.1 However, an estimated 5 to 15% of patients have an incomplete response to colchicine (e.g. colchicine-resistant FMF [cr-FMF]).2
Objectives To determine the impact of cr-FMF on patients' or caregivers' lives, to describe patient's journey from first onset of symptoms to present, and to identify areas for improvement in cr-FMF patient care.
Methods Patients with cr-FMF or their caregivers (pediatric patients) were recruited through disease experts in rare fever syndromes and FMF patient support groups (n=16). Patients completed a 20 page pre-interview questionnaire and an in-depth 90 minute interview. The topics of interest were symptoms, diagnosis process, treatment experience, treatment needs and impact on wellbeing.
Results The majority of patients were adults (n=14, 87.5%) with a family history of FMF (n=14, 87.5%). Responses were quantified for those with completed data, 14 of the 16 who initiated. The disease generally starts in childhood, with 65% of patients experiencing symptoms before 10 years. Attacks occur with variable frequency, ranging from weekly to every 3-4 months, and usually last between 12 and 72 hours. It may occur spontaneously or be triggered by physical or emotional stress, or menstruation. The most commonly reported symptoms were stomach, fever, joint pain, difficulty breathing and chest and back pain. A key feature was the delay in diagnosis ranging from 4 months to 44 years, with half of patients experiencing a delay of around 5 years. Flares are extremely debilitating and patients are often bed ridden during a flare due to severe pain. Work is regularly affected and children frequently miss school, leading to severely disrupted education. Patients are often dependant on family for support and finance. The entire family are impacted especially parents who act as carers. Parents who have passed the condition to their child express guilt and regret. Most patients continue to be treated with colchicine despite only partial response and distressing side-effects. They identified the need for a treatment to prevent or reduce attacks, and fast-acting to reduce attack symptoms.
Conclusions Patients with cr-FMF reported a significant impact of the disease on physical, social, emotional, and practical/financial aspects of their lives. In their journey with cr-FMF, they commonly experienced diagnostic delays and misdiagnoses. Therapeutic options with improved efficacy and fewer side-effects are needed for the treatment of cr-FMF. Once the diagnosis is given, patients require educational materials to better understand their disease including the causes of their condition, the associated symptoms and the treatment options.
Jacobs Z et al. Curr Allergy Asthma Rep. 2010;10(6):398-404.
Ben-Chetrit E et al. Clin Exp Rheumatol. 2008;26(4 Suppl 50):S49-S51.
Disclosure of Interest None declared