scholarly journals Abdominal pain and fever in a patient with familial periodic fever: an extremely rare mutation of the TNF receptor superfamily member 1A gene

2018 ◽  
Author(s):  
Michele Marini ◽  
Emanuele Rausa ◽  
Federico Coccolini ◽  
Federica Bianco ◽  
Cecilia Merli ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Periodic Fever ◽  
Young Patients ◽  
Recurrent Abdominal Pain ◽  
Genetic Mutations ◽  
Tnf Receptor ◽  
Rare Mutation ◽  
Tnfrsf1a Gene ◽  
Fever Syndromes ◽  
Surgical Treatments

Periodic fever syndromes (PFSs) are a clinically inhomogeneous group of diseases based on peculiar genetic mutations. PFSs have to be suspected in young patients presenting with recurrent attacks of abdominal pain, skin rashes, arthritis, myalgia and fever as soon as more prevalent diseases have been excluded. An unconsidered hypothesis of PFSs may lead in delaying the diagnosis and unnecessary medical and surgical treatments. In this article, we described the case of a young man presented to our attention due to recurrent abdominal pain and fever caused by TNF-receptor-associated periodic syndrome (TRAPS) sustained by the TNFRSF1A gene mutation.

scholarly journals Periodic syndrome associated with the mutation of the receptor gene of the tumor necrosis factor (clinical case)

2020 ◽  
Vol 73 (2) ◽  
pp. 405-409
Author(s):  
Mariana A. Ryznychuk ◽  
Iryna V. Lastivka ◽  
Vasily P Pishak ◽  
Mariana I. Kryvchanska ◽  
Violeta G. Khomenko
Keyword(s):  
Abdominal Pain ◽  
Periodic Fever ◽  
Receptor Gene ◽  
Clinical Manifestations ◽  
Genetic Mutations ◽  
Tnfrsf1a Gene ◽  
Pathogenetic Therapy ◽  
The Right ◽  
Selective Blocker ◽  
Necrosis Factor

The paper deals with a case of TRAPS in a Ukrainian family. The manifestations of this syndrome appeared at the age of 2,5 years and gradually the attacks of fever became more frequent and the recurrence was typical of this diagnosis. Classically, besides fever, there was an intense abdominal pain, such as an “acute abdomen”, arthralgia in the right hip and headache. Micropoliadenia was also detected. This patient did not have any other symptoms. A genetic study found a mutation in the TNFRSF1A gene (substitution in exon 4 with 3449T> G: p.C117G). This mutation has not been recorded in the international electronic database INFEVERS. The child was administered pathogenetic therapy with a selective blocker of interleukin (IL-1) receptors (anakinra) at a dose of 1-5 mg / kg of body weight subcutaneously daily. After the first injection of anakinra the patient got rid of fever, joint syndrome and of abdominal pain. After 1 week of therapy, laboratory parameters of the disease activity (ESR, CRP) became normal. The child has taken anakinra for two years, there were no exacerbations of the disease or side effects due to the treatment. The variety of clinical manifestations of congenital periodic fever and the presence of previously unknown genetic mutations that lead to the development of auto-inflammatory syndromes, indicate the need for a detailed study of these diseases.

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.

Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes

2007 ◽  
Vol 292 (1) ◽  
pp. R86-R98 ◽  
Author(s):  
Anna Simon ◽  
Jos W. M. van der Meer
Keyword(s):  
Periodic Fever ◽  
Innate Immune ◽  
Tnf Receptor ◽  
Inherited Disorders ◽  
Autoinflammatory Syndromes ◽  
General Hypothesis ◽  
Periodic Fever Syndromes ◽  
Fever Syndromes ◽  
Mediterranean Fever ◽  
Pyogenic Arthritis

Familial periodic fever syndromes, otherwise known as hereditary autoinflammatory syndromes, are inherited disorders characterized by recurrent episodes of fever and inflammation. The general hypothesis is that the innate immune response in these patients is wrongly tuned, being either too sensitive to very minor stimuli or turned off too late. The genetic background of the major familial periodic fever syndromes has been unraveled, and through research into the pathophysiology, a clearer picture of the innate immune system is emerging. After an introduction on fever, interleukin-1β and inflammasomes, which are involved in the majority of these diseases, this manuscript offers a detailed review of the pathophysiology of the cryopyrin-associated periodic syndromes, familial Mediterranean fever, the syndrome of pyogenic arthritis, pyoderma gangrenosum and acne, Blau syndrome, TNF-receptor-associated periodic syndrome and hyper-IgD and periodic fever syndrome. Despite recent major advances, there are still many questions to be answered regarding the pathogenesis of these disorders.

scholarly journals TNFRSF1A gene variant identified in a boy with recurrent episodes of fever

2018 ◽  
Vol 146 (9-10) ◽  
pp. 577-580
Author(s):  
Srdja Jankovic ◽  
Goran Djuricic ◽  
Aleksandra Radosavljevic ◽  
Dragana Janic
Keyword(s):  
Fever Of Unknown Origin ◽  
Periodic Fever ◽  
Tumor Necrosis Factor Receptor ◽  
Unknown Origin ◽  
Recurrent Fever ◽  
Diagnostic Challenge ◽  
Periodic Fever Syndromes ◽  
Tnfrsf1a Gene ◽  
Febrile Condition ◽  
Fever Syndromes

Introduction. Fever of unknown origin is an important diagnostic challenge. Although rare, periodic fever syndromes may often present with a chronic or recurrent febrile condition with a variable temporal pattern of occurrence. Although clinical characteristics often indicate the syndrome in question, there are many atypical forms, and the genotype?phenotype relationship is highly complex, warranting in many cases the designation of a ?syndrome spectrum? rather than a syndrome per se. The aim of this paper was to present a boy with recurrent fever of unknown origin. Case outline. We hereby present a boy with recurrent fever of unknown origin who was by clinically guided partial exome sequencing found to have a heterozygous variant 434A>G in the TNFRSF1A gene, otherwise connected with tumor necrosis factor receptor-associated periodic fever syndrome. The patient responded well to short courses of glucocorticoids and is no longer subjected to unnecessary antibiotic treatment he had frequently received in the past. Conclusion. Periodic fever syndromes should be kept in mind as a differential diagnostic possibility in children with fever of unknown origin.

Clinical and genetic features of Chinese adult patients with tumour necrosis factor receptor-associated periodic fever syndrome

Rheumatology ◽  
2019 ◽  
Vol 59 (8) ◽  
pp. 1969-1974 ◽  
Author(s):  
Mengzhu Zhao ◽  
Yi Luo ◽  
Di Wu ◽  
Yunjiao Yang ◽  
Yang Sun ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Disease Onset ◽  
Adult Patients ◽  
Tumour Necrosis Factor Receptor ◽  
Diagnosis Delay ◽  
Periodic Fever Syndrome ◽  
Tnf Receptor ◽  
Chinese Adult ◽  
Tnfrsf1a Gene ◽  
Genetic Features

Abstract Objectives TNF receptor-associated periodic fever syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory disease caused by mutations of TNF receptor superfamily member 1 A (TNFRSF1A) gene. TRAPS has hardly been reported in the Chinese population. We aimed to characterize the clinical and genetic features of Chinese adult patients with TRAPS. Methods Nine adult patients (≥16 years) were diagnosed during April 2015 to June 2019, at the Department of Rheumatology, Peking Union Medical College Hospital. Clinical and genetic features of these patients were evaluated and compared with those from Japan and Europe. Results The median age of disease onset was 3 (0.5–38.5) years old, and adult-onset was observed in two (22.2%) patients. The median time of diagnosis delay was 16.5 (1.5–50.5) years. One patient had a family history of TRAPS. The frequent symptoms were fever (nine, 100%), rash (seven, 77.8%), arthralgia/arthritis (five, 55.6%) and abdominal pain (five, 55.6%). Only two (22.2%) patients had periorbital oedema. Nine TNFRSF1A gene variants were detected, including C58R, G65E, F89L, C99G, V202G, V202D, c.769-23T>C, S290I and c.*64T>C. Rash was more frequently seen in Chinese than in Japanese and European patients, while chest pain and amyloidosis occurred less frequently. Conclusion This is the first and largest case series of TRAPS in Chinese adult patients. Two novel TNFRSF1A variants, S290I and V202G, have been identified. The different clinical manifestations of our patients compared with those from Japan and Europe might be related to their TNFRSF1A variants.

Hereditary periodic fever syndromes

2010 ◽  
pp. 1760-1766
Author(s):  
Helen J. Lachmann ◽  
Philip N. Hawkins
Keyword(s):  
Periodic Fever ◽  
Mevalonate Kinase ◽  
Tnf Receptor ◽  
Gene Encoding ◽  
Kinase Gene ◽  
Periodic Fever Syndromes ◽  
Hereditary Periodic Fever Syndromes ◽  
Hereditary Periodic Fever ◽  
Fever Syndromes ◽  
Wells Syndrome

The hereditary periodic fever syndromes are autoinflammatory diseases 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 mutation in the gene encoding pyrin; (2) tumour necrosis factor (TNF) receptor associated periodic syndrome (TRAPS), due to mutation 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. Understanding of the molecular pathogenesis of these disorders provides unique insights into the regulation of innate immunity and inflammation....

Near miss abdominal pain

2021 ◽  
Vol 14 (2) ◽  
pp. e238883
Author(s):  
Nyan Phone Tint ◽  
Hamzah Hussain
Keyword(s):  
Abdominal Pain ◽  
Young Patients ◽  
Recurrent Abdominal Pain ◽  
Medical Problem ◽  
Pelvic Abscess ◽  
Near Miss ◽  
Medical Emergency ◽  
Accident And Emergency ◽  
Assessment Unit ◽  
Early Use

An 18-year-old adolescent with intermittent colicky abdominal pain for 4 months was admitted to a Medical Emergency Assessment Unit for further investigation of possible colitis, after being reviewed by a surgeon in Accident and Emergency. Initially he was treated for a urinary tract infection, however a CT of the abdomen revealed appendicular perforation with pelvic abscess formation. The patient required an urgent laparoscopy and was discharged without complications. Typically, appendicitis is an acute surgical problem whereas chronic abdominal pain is routinely considered a medical problem. This case demonstrates the importance of maintaining acute causes as part of the differentials list in young patients with unexplained recurrent abdominal pain as well as justifying the early use of CT when there is ambiguity surrounding a diagnosis.

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