OBJECTIVES:\ud
Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency.\ud
METHODS:\ud
We developed the ADDI by consensus building. The top 40 enrollers of patients in the Eurofever Registry and 9 experts from the Americas participated in multiple rounds of online surveys to select items and definitions. Further, 22 (parents of) patients rated damage items and suggested new items. A consensus meeting was held to refine the items and definitions, which were then formally weighted in a scoring system derived using decision-making software, known as 1000minds.\ud
RESULTS:\ud
More than 80% of the experts and patients completed the online surveys. The preliminary ADDI contains 18 items, categorised in the following eight organ systems: reproductive, renal/amyloidosis, developmental, serosal, neurological, ears, ocular and musculoskeletal damage. The categories renal/amyloidosis and neurological damage were assigned the highest number of points, serosal damage the lowest number of points. The involvement of (parents of) patients resulted in the inclusion of, for example, chronic musculoskeletal pain.\ud
CONCLUSIONS:\ud
An instrument to measure damage caused by autoinflammatory diseases is developed based on consensus building. Patients fulfilled a significant role in this process
BackgroundMevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in MVK gene. MKD patients typically have an early onset of symptoms including recurrent episodes of high fever, abdominal pain, diarrhea and vomiting, arthralgia and lymphadenopathy. However not all patients have typical clinical picture of MKD.MethodsWe conducted a retrospective analysis of clinical features of six patients (4 females, 2 males) with MKD (confirmed by identification of MVK gene mutations). Four patients received therapy with inhibitors of IL-1 (Anakinra and/or Canakinumab). One of the patients died from amyloidosis and macrophage activation syndrome (MAS) prior to treatment initiation, her diagnosis was verified post mortem.ResultsAll patients had the first symptoms of disease within the first 6 months of life. During the course of the disease all patients had periodic fever and peripheral lymphadenopathy (mainly cervical group), as well as abdominal pain, nausea/vomiting. Five patients had diarrhea, sometimes with blood, one patient suffered from severe constipation. Rash was seen in five patients, myalgia, artralgia were observed only in four. Oral ulcers were noted in two children. Two patients had neurological involvement. Interestingly, five out of six patients had rhinitis during attacks. One patient during the attack had periorbital edema and hyperemia, which; to our knowledge, have not been reported previously in MKD. One patient developed amyloidosis and MAS before treatment initiation, which led to her death. In patients receiving anti-IL-1 therapy AIDAI index decreased from 49.5±14,6 before to 1,75±1,3 after 6 month of therapy (p=0.003).ConclusionsMKD symptoms can be variable and sometimes atypical, which requires physician's awareness. In our small cohort of MKD patients anti IL-1 therapy was highly effective.Disclosure of InterestNone declared
The article is devoted to an extremely rare variant of type I interferonopathies associated with a homozygous gain of function (GOF) mutation in the STAT2 gene in a 5-year-old child. This genetic defect was first described in 2019, and so far only 3 cases are known in the world with a similar pathology. Here we present the fourth clinical case and our experience in managing a patient with STAT2 GOF. The article presents the key aspects of the pathogenesis, clinical picture based on the analysis of all known cases of the disease. The absence of established criteria and methods of treatment for this disease is due to the rarity and relative novelty of the described nosology. We present the experience of treatment using a JAK kinase inhibitor, followed by an assessment of the effectiveness of the therapy and side effects. The patient's parents agreed to use the information, including the child's photo, in scientific research and publications.
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