Hyper-IgD syndrome and familial Hibernian fever are true periodic fever syndromes

2000 ◽  
Vol 137 (3) ◽  
pp. 438-439 ◽  
Author(s):  
J.P.H. Drenth ◽  
R.J. Powell
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndromes ◽  
Fever Syndromes ◽  
Hyper Igd Syndrome

Familial Periodic Fever Syndromes Erupt on Skin

2007 ◽  
Vol 38 (9) ◽  
pp. 36-37
Author(s):  
HEIDI SPLETE
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndromes ◽  
Fever Syndromes

scholarly journals MO961KIDNEY TRANSPLANTATION AS A TREATMENT OF CHOICE FOR AA AMYLOIDOSIS DUE TO PERIODIC FEVER SYNDROME

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Ivana Dedinska ◽  
Karol Graňák ◽  
Matej Vnučák
Keyword(s):  
Early Childhood ◽  
Kidney Transplantation ◽  
Clinical Course ◽  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Aa Amyloidosis ◽  
Periodic Fever Syndromes ◽  
Post Transplant ◽  
Fever Syndromes ◽  
End Stage

Abstract Background and Aims Renal AA amyloidosis is the most serious complication of periodic fever syndrome, which, inadequate suppression, due to persistent inflammation, leads to nephrotic syndrome and renal failure over several years. In most cases, periodic fever syndromes begin to manifest clinically in early childhood. Occurrence in adulthood is considered rare and is associated with a poorer clinical course. Kidney transplantation is an effective and safe treatment for end-stage chronic kidney disease (CKD) based on AA amyloidosis. Method We present cases of two patients after deceased donor kidney transplantation, who have been diagnosed with adult periodic fever syndrome. Conclusion Periodic fever syndromes are diseases beginning to manifest clinically in early childhood in 60–90% of cases, most often in the case of familial Mediterranean fever around 4 years of age, in the case of CAPS usually only a few months after birth. Occurrence in adulthood is considered rare and is associated with a poorer clinical course. Kidney transplantation is an effective and safe treatment of end-stage CKD based on AA amyloidosis associated with periodic fever syndrome. Adequate targeted treatment against IL-1 or TNF is important and appears to be safe during the post-transplant period, with regular monitoring of renal function, acute phase inflammatory reactants, and histological findings by protocol graft biopsies. It will be important and necessary to assess the development of diseases in the post-transplant period in the long term.

Hereditary periodic fever syndromes

2020 ◽  
pp. 2207-2218
Author(s):  
Helen J. Lachmann ◽  
Stefan Berg ◽  
Philip N. Hawkins
Keyword(s):  
Clinical Features ◽  
Periodic Fever ◽  
Mevalonate Kinase ◽  
Tnf Receptor ◽  
Aa Amyloidosis ◽  
Periodic Fever Syndromes ◽  
Hereditary Periodic Fever Syndromes ◽  
Hereditary Periodic Fever ◽  
Fever Syndromes ◽  
Wells Syndrome

The hereditary periodic fever syndromes or hereditary autoinflammatory diseases are disorders of innate immunity that mostly present in childhood and are characterized by recurrent, self-limiting, seemingly unprovoked episodes of fever and systemic inflammation that occur in the absence of autoantibody production or identifiable infection. Disorders include (1) familial Mediterranean fever (FMF), due to mutations in the gene encoding pyrin; (2) tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS), due to mutations in a gene for a TNF receptor; (3) mevalonate kinase deficiency and period fever (MKD), caused by mutations in the mevalonate kinase gene; and (4) the cryopyrin-associated periodic syndromes (CAPS), which include (a) familial cold urticarial syndrome, (b) Muckle–Wells syndrome, and (c) chronic infantile neurological, cutaneous, and articular syndrome. With advances in genetics, further syndromes are continually being recognized. These are all extremely rare and in the majority are only known to affect a handful of kindred or individuals. Diagnosis relies on recognition of suggestive clinical features that are almost always accompanied by a substantial acute phase response, and is supported by genetic testing. With the exception of FMF, which is a common disease in certain geographic areas, hereditary periodic fever syndromes are rare and easily overlooked in the differential diagnosis of recurrent fevers. Clinical features and management—attacks can be mild to debilitating and short to prolonged, while their most feared complication is AA amyloidosis. Effective therapies are available for some syndromes, for example: (1) FMF—daily prophylactic colchicine prevents clinical attacks and susceptibility to AA amyloidosis, (2) CAPS—treatment with anti-IL-1 agents produces rapid and often complete clinical and serological remission, and (3) TRAPS—anti-IL therapies are extremely effective.

scholarly journals IL-1 Inhibitors in the Treatment of Monogenic Periodic Fever Syndromes: From the Past to the Future Perspectives

2021 ◽  
Vol 11 ◽  
Author(s):  
Hana Malcova ◽  
Zuzana Strizova ◽  
Tomas Milota ◽  
Ilja Striz ◽  
Anna Sediva ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Tumor Necrosis Factor Receptor ◽  
Systemic Juvenile Idiopathic Arthritis ◽  
Clinical Manifestations ◽  
Musculoskeletal Symptoms ◽  
Mevalonate Kinase Deficiency ◽  
Periodic Fever Syndromes ◽  
Therapeutic Uses ◽  
Fever Syndromes ◽  
Mediterranean Fever

Autoinflammatory diseases (AIDs) represent a rare and heterogeneous group of disorders characterized by recurrent episodes of inflammation and a broad range of clinical manifestations. The most common symptoms involve recurrent fevers, musculoskeletal symptoms, and serositis; however, AIDs can also lead to life-threatening complications, such as macrophage activation syndrome (MAS) and systemic AA amyloidosis. Typical monogenic periodic fever syndromes include cryopyrin-associated periodic fever syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyper IgD syndrome (MKD/HIDS), and familial Mediterranean fever (FMF). However, a number of other clinical entities, such as systemic juvenile idiopathic arthritis (sJIA), adult-onset Still’s disease (AOSD), Kawasaki disease (KD) and idiopathic recurrent pericarditis (IRP), display similar phenotypical and immunological features to AIDs. All these diseases are pathophysiologicaly characterized by dysregulation of the innate immune system and the central pathogenic role is attributed to the IL-1 cytokine family (IL-1α, IL-1β, IL-1Ra, IL-18, IL-36Ra, IL-36α, IL-37, IL-36β, IL-36g, IL-38, and IL-33). Therefore, reasonable therapeutic approaches aim to inhibit these cytokines and their pathways. To date, several anti-IL-1 therapies have evolved. Each drug differs in structure, mechanism of action, efficacy for the treatment of selected diseases, and side effects. Most of the available data regarding the efficacy and safety of IL-1 inhibitors are related to anakinra, canakinumab, and rilonacept. Other promising therapeutics, such as gevokizumab, tadekinig alfa, and tranilast are currently undergoing clinical trials. In this review, we provide sophisticated and up-to-date insight into the therapeutic uses of different IL-1 inhibitors in monogenic periodic fever syndromes.

scholarly journals Brief Report: AA Amyloidosis Complicating the Hereditary Periodic Fever Syndromes

2013 ◽  
Vol 65 (4) ◽  
pp. 1116-1121 ◽  
Author(s):  
Thirusha Lane ◽  
Jutta M. Loeffler ◽  
Dorota M. Rowczenio ◽  
Janet A. Gilbertson ◽  
Alison Bybee ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Aa Amyloidosis ◽  
Periodic Fever Syndromes ◽  
Hereditary Periodic Fever Syndromes ◽  
Hereditary Periodic Fever ◽  
Fever Syndromes

Periodic Fever Syndromes

2010 ◽  
Vol 10 (6) ◽  
pp. 398-404 ◽  
Author(s):  
Zachary Jacobs ◽  
Christina E. Ciaccio
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndromes ◽  
Fever Syndromes

Periodic fever syndromes: a patient diagnosed with recurrent Kawasaki disease

2020 ◽  
Vol 30 (7) ◽  
pp. 1009-1011
Author(s):  
Sena Turk ◽  
Derya Aydin ◽  
Eser Dogan ◽  
Erturk Levent ◽  
Necil Kutukculer
Keyword(s):  
Kawasaki Disease ◽  
Periodic Fever ◽  
Periodic Fever Syndromes ◽  
System Disease ◽  
Rheumatologic Diseases ◽  
Coronary Artery Involvement ◽  
Fever Syndromes ◽  
Mediterranean Fever ◽  
Systemic Onset ◽  
Children Under 5

AbstractKawasaki disease, known as mucocutaneous lymph node syndrome, is a multi-system disease of unknown aetiology that occurs in young children under 5 years of age. The recurrence rate of Kawasaki disease is as rare as 1–3%. Especially in cases with coronary artery involvement, recurrent Kawasaki disease should be investigated in terms of underlying rheumatologic diseases such as periodic fever syndromes, microscopic polyangiitis, polyarteritis nodosa, and systemic-onset juvenile arthritis. In this study, we report homozygote mutations in mevalonate kinase and familial Mediterranean fever genes in a recurrent Kawasaki disease with coronary dilatation.

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