Living with autoinflammatory diseases: identifying unmet needs of children, adolescents and adults.

BACKGROUND: Autoinflammatory diseases (AIDs) illnesses of the innate immunity resulting in clinical signs and symptoms of systemic inflammation and loss of organ functions. While pathophysiological mechanisms are heavily studied and increasingly well understood, psychosocial needs are much less explored. The disease impact on the everyday life of patients including school and work is poorly studied. The purpose of the study was to identify the spectrum of unmet needs of children, adolescents and adults living with autoinflammatory disease and their families, to define key unmet needs and strategies and to develop and evaluate a pilot intervention addressing the unmet need "school". METHODS: A single-center, mixed-method study of AID patients and their families was conducted. Consecutive patients ages ≥4 years and their families were included. Expert consulting, focus groups and questionnaires explored the patient perspective of "unmet needs in AID". Quantitative and qualitative content analyses were performed and informed the development of a framework of unmet needs. A targeted pilot multimodular intervention for the unmet need "school" was developed and tested. Health-related Quality of Life (HRQoL) was evaluated using DISABKIDS-questionnaires and psychosocial impact evaluations. RESULTS: The study included 83 patients and their families. These were 14 children, 9 adolescents and 25 adults with AID and 35 family members; patients' median age was 19 years (5-78). Expert consultations: 110 AID patients with 320 visits/year; 99 (90%) were children and adolescents. 78 patients and family members (94%) participated in 10 groups. Qualitative content analysis delineated 9 domains of unmet needs, the most relevant being school, health care system and public institutions. The pilot intervention"school" included 18 participants; median age was 9 years (7-16). HRQoL improved with the intervention including "understanding" by 53%, however improvement was not sustained over time. CONCLUSION: Unmet needs of AID patients and families affect all areas of life. Accessible networks increasing knowledge and empowering patients, strategies supporting academic and workplace environments to ensure successful participation and integrated concepts addressing psychosocial needs are urgently needed.

Outcome after surgery for acute aortic dissection type A in the elderly: a single-center experience.

OBJECTIVES: Despite improvements in surgical and perfusion techniques, surgery for acute aortic dissection type A (AADA) remains associated with high mortality rates. The aim of this study was to evaluate outcome after surgery for AADA in elderly in comparison with the outcome in younger patients. METHODS: Between January 2004 and December 2012, 204 patients underwent operation for AADA. Of these, 65 patients were aged 70 years and older (elderly group; range, 70-85 years) and 139 were younger than 70 years (younger group; range, 18-69 years). RESULTS: No significant differences were detected between the groups with regard to preoperative risk factors on admission. Significantly more number of elderly patients than younger underwent supracoronary replacement of the ascending aorta (93.8% versus 80.6%, p = 0.013). In comparison to the elderly patients, younger patients more frequently received complex surgery (Bentall and David operation). The mean extracorporeal circulation time (183 ± 62 minutes versus 158 ± 3 minutes; p = 0.003) and the mean aortic cross-clamp time (100 ± 45 minute versus 82 ± 30 minute; p = 0.006) were significantly higher for younger patients. No significant differences in postoperative complications and major morbidity were observed. The operative mortality (elderly group 4.6% versus younger group 1.4%; p = 0.33) and 30-day mortality (elderly group 18.5% versus younger group 8.6%; p = 0.06) were without statistical significance between the groups. CONCLUSION: Surgery for AADA in the elderly resulted in acceptable mortality. Satisfactory outcomes should encourage the offering of surgery in these patients.

Hemostatic management of an infant with severe hemophilia A and tetralogy of Fallot for cardiac bypass surgery.

We present the hemostatic management of severe hemophilia A of an infant with high risk of inhibitor development who underwent cardiac surgery for correction of tetralogy of Fallot. Continuous infusion of recombinant factor VIII resulted in good hemostasis during surgery and postoperatively. Unfortunately, the patient had inhibitor development 2 months after cardiothoracic surgery. Although cardiac surgery is successful, exposure to factor concentrates in severe hemophilia early in life might predispose a patient to inhibitor development.

Bacterial endocarditis and septic arthritis in a patient with severe hemophilia A: a case report.

Central venous access devices are commonly used in the care of pediatric patients with hemophilia. Bacteremia associated with this type of venous access is common. We describe a patient with severe hemophilia A who had development of septic arthritis and endocarditis secondary to multiple episodes of bacteremia associated with a central venous access device. Endocarditis and septic arthritis in patients with hemophilia are rare infectious complications but should be considered in patients with persistent bacteremia.

Molecular analysis in a patient with severe factor VII deficiency and an inhibitor: report of a novel mutation (S103G).

Congenital factor VII (FVII) deficiency is an autosomal recessive bleeding disorder with variable phenotypic correlation between FVII activity and bleeding risk. We report a novel mutation of the FVII gene that creates the amino acid change Ser 103 to Gly, which resulted in severe FVII deficiency with reduced FVII antigen. This mutation in the heterozygous form was also present in a mildly affected, unrelated patient. We also report on the natural history of an FVII inhibitor in the patient with severe FVII deficiency.