Familial Mediterranean fever in the colchicine era: The fate of one family

Zemer, Deborah; Livneh, Avi; Pras, Mordechai; Sohar, Ezra

doi:10.1002/ajmg.1320450311

Cited by 20 publications

(9 citation statements)

References 20 publications

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“…Окончательно ведущее значение в развитии заболевания фагоцитов и, следовательно, дисфункции системы врожденного иммунитета было доказано, когда была продемонстрирована высокая эффективность колхицина в лечении ПБ, в том числе осложненной амилоидозом [30,31]. Колхицин позволил не только предупреждать приступы болезни, но и проводить лечение и профилактику амилоидоза [22,[32][33][34]. Хотя механизм действия колхицина оставался недостаточно изученным, была установлена способность препарата влиять на функционирование внутриклеточных каркасных структур -препарат вызывал деполяризацию микротрубочек, изменял внутриклеточное содержание циклических нуклеотидов.…”

Section: трансформация представлений о патогенезе периодической болезunclassified

Familial Mediterranean fever: diagnosis and treatment

Рамеев¹,

Simonyan²,

Bogdanova³

et al. 2020

CPT

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Клиника им. Е.М. Тареева, кафедра внутренних, профессиональных болезней и ревматологии Первого МГМУ им. И.М. Сеченова (Сеченовский университет), Москва 2 Кафедра внутренних болезней Ереванского медицинского университета им. Гераци, Ереван,

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Section: трансформация представлений о патогенезе периодической болезunclassified

Familial Mediterranean fever: diagnosis and treatment

Рамеев¹,

Simonyan²,

Bogdanova³

et al. 2020

CPT

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“…Phenotype 2 refers to FMF patients with proteinuria or kidney failure resulting from amyloidosis, in whom the inflammatory attacks typical of FMF occur only afterwards. This phenotype also includes subjects belonging to the families of FMF patients who evolve towards systemic amyloidosis as the sole manifestation of the disease [ 36 – 38 ]. Phenotype 3 includes subjects carrying one of two mutations (homozygous or heterozygous) of the MEFV gene without presenting with any of the known clinical manifestations [ 39 ].…”

Section: Familial Mediterranean Fever (Fmf)mentioning

confidence: 99%

Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues

Caso

Rigante

Vitale

et al. 2013

International Journal of Rheumatology

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Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists.

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“…In eligible patients, renal transplantation is a therapeutic option with good prognosis [98,99]. Colchicine prevents the recurrence of amyloidosis in most, but not all, patients who have received a renal transplant [65, [100][101][102].…”

Section: Therapymentioning

confidence: 99%

Hereditary periodic fever and reactive amyloidosis

2005

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Hereditary periodic fever syndromes (HPF) are a group of diseases characterised by recurrences of fever and inflammation separated by symptom-free intervals. Familial Mediterranean fever (FMF) is the most frequent entity within this group of disorders which further consists of hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS), tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndrome (CAPS). In recent years the causative genes have been identified. Reactive amyloidosis is a severe complication of HPFs. This is caused by deposition of fibrils that consist of the proteolytically cleaved acutephase protein serum amyloid A (SAA). Several factors have been identified that modulate the risk for developing amyloidosis, including SAA concentrations, polymorphisms in the SAA gene and ethnic origin. Furthermore, the risk of developing amyloidosis varies widely between the different HPFs. Colchicine is the cornerstone in the management of FMF, as it reduces the severity and frequency of attacks and is also effective in preventing amyloidosis. In the other HPFs, the introduction of anticytokine-based therapies is a promising new option in treating these inflammatory conditions and they potentially can prevent amyloidosis.

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Familial Mediterranean fever in the colchicine era: The fate of one family

Cited by 20 publications

References 20 publications

Familial Mediterranean fever: diagnosis and treatment

Familial Mediterranean fever: diagnosis and treatment

Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues

Hereditary periodic fever and reactive amyloidosis

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