Familial paroxysmal polyserositis

Siegal, Sheppard

doi:10.1016/0002-9343(64)90119-6

Cited by 82 publications

(35 citation statements)

References 48 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…However, a dominant mode of inheritance has been claimed in some studies, and in another, the number of offspring affected was significantly lower than that expected [18,25]; those authors concluded that neither autosomal recessive, nor dominant modes of inheritance, seemed likely. In virtually all reported series, a significant male predominance has been recorded [11,14,18]; although varying in different reports, the mean ratio is on the order of 1.7:1 (male:female) [17,18]. Prevalence is around 18% when both parents are healthy, and 36% when one is affected; if there were full penetrance, the corresponding figures would be 25% and 50%.…”

Section: Epidemiologymentioning

confidence: 98%

“…Colchicine therapy is not without complications and an alternative chemotherapeutic agent should be sought. [6][7][8][9][10][11] ; the patients described were predominantly of Jewish origin and lived in the USA. .Recent large series have involved Jewish residents of Israel [12][13][14], Turks [15], Armenians (in the USA) [16,17], and Arabs [18]; in the latter report (from Kuwait), those studied came from Palestine (N = 112), Egypt (N = 26), Lebanon (N = 17), Syria (N = 13) and Iraq (N = 7), most being "fair-skinned" Arabs.…”

Section: Accepted For Publication 28 November 1990mentioning

confidence: 99%

“…(together with circumstantial evidence, see below), makes a link with migraine [9,37] a further possibility. Possible etiological factor (s): Infective agent of unknown identity "Immune defect" "Allergen" [9] Dietary "allergy" [11] Angioneurotic edema [9] "Autoimmune" C5a-inhibitor deficiency (joint/peritoneal fluid) Genetic markers have not been detected in those suffering from RHP; neither an ABO nor HLA [38] association has been demonstrated. Absence of historical reports in geographical areas where the disease is relatively common (see above) suggests that a relatively recently introduced environmental factor might "trigger" overt symptoms in those who are genetically susceptible.…”

Section: Etiology and Pathogenesismentioning

confidence: 99%

“…Symptoms are frequently alleviated by pregnancy [11,12,16]. More than 50% of those affected experience pleurisy [10][11][12], which consists of sharp stabbing pains, usually in the lower chest (right > left) with radiation to the abdomen and shoulders; breath sounds are diminished, a pleural friction rub is unusual, and there may be a small effusion. Recently, recurrent linear pulmonary atelectases have been demonstrated [40].…”

Section: Clinical Aspectsmentioning

confidence: 99%

“…Other manifestations are nodular rashes, Schonlein-Henoch purpura [5,46,47], urticaria [6,47], bullous lesions [48], and a vasculitis which is usually associated with an immune-complex nephropathy [49]. In addition, splenomegaly is present in about 30% of cases overall [11][12][13] and, like the arthropathy and dermatological lesions, is less frequent in Arab patients [18]. Table 4 summarizes some less common clinical features.…”

Section: Clinical Aspectsmentioning

confidence: 99%

See 4 more Smart Citations

Recurrent Hereditary Polyserositis or Familial Mediterranean Fever: An Overview

Cook

1991

Ann Saudi Med

View full text Add to dashboard Cite

The etiology and pathogenesis of recurrent hereditary polyserositis (RHP) remain undetermined. There is good evidence for a genetic basis (transmission being by a recessive Mendelian mode of inheritance), but not all cases have a family history and an infective (or other environmental) component has not been excluded. The marked variation in presentation and complications (in particular the prevalence of amyloid deposition) in different series suggests that this might not be a homogeneous entity. Vascular involvement is a basic prerequisite for the periodic attacks, and evidence for transient immunological abnormalities is incontrovertible. There are no reliable diagnostic techniques. Colchicine is of value in treatment, but its mode of action is unclear. More macro-and microepidemiological studies are required and will be of paramount importance. Clinical observations and molecular genetic studies should address the possibility that two or more immunological or metabolic defects might be interwoven; why for example do only some affected groups develop AA amyloidosis? Simple, non-invasive diagnostic tests are required for the uncomplicated disease and also for the presence of amyloid deposition. Preventive strategies might eventually involve genetic engineering techniques, but in the immediate future, education of doctors and other health care workers-to raise the "index of awareness" of RHP, in order that colchicine treatment can be commenced early in the disease-forms an important strategy. Colchicine therapy is not without complications and an alternative chemotherapeutic agent should be sought. GC Cook, Recurrent Hereditary Polyserositis or Familial Mediterranean Fever: An Overview. 1991; 11(5): 576-584 Many aspects of recurrent hereditary polyserositis (RHP) have recently been reviewed [1][2][3][4]. The first description of a familial condition comprising "recurring attacks of a peculiar nature" was made by Janeway and Mosenthal in 1908. In that report, a 16-year-old Jewish schoolgirl "without special neurotic inheritance" had suffered febrile bouts associated with abdominal pain, which consistedof prodromal, crescendo, and recovery phases, since the age of 2 weeks [5]. In view of the dramatic nature of many attacks, it is perhaps surprising that no records of the disease have been discovered in early medical (and also lay) literature from the Mediterranean and Middle East, including the work of Hippocrates, the Bible, and the Quran. Subsequent accounts of RHP followed

show abstract

Section: Epidemiologymentioning

confidence: 98%

Section: Accepted For Publication 28 November 1990mentioning

confidence: 99%

Section: Etiology and Pathogenesismentioning

confidence: 99%

Section: Clinical Aspectsmentioning

confidence: 99%

Section: Clinical Aspectsmentioning

confidence: 99%

See 3 more Smart Citations

Recurrent Hereditary Polyserositis or Familial Mediterranean Fever: An Overview

Cook

1991

Ann Saudi Med

View full text Add to dashboard Cite

show abstract

Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF)

et al. 1998

View full text Add to dashboard Cite

Familial Mediterranean fever (FMF) is an autosomal recessive disease clinically characterized by recurrent short self‐limited attacks of fever accompanied by peritonitis, pleurisy, and arthritis and can lead to amyloidosis and renal failure in the longer term. It is prevalent mainly in non‐Ashkenazi Jews, Armenians, Turks, and Arabs. Due to the lack of an accurate diagnostic test, patients often experience years of attacks and invasive diagnostic procedures before the correct diagnosis is made and adequate treatment is begun. Recently, the gene responsible for FMF, denoted pyrin, has been cloned, and three disease mutations have been described (French FMF Consortium, 1997; International FMF Consortium, 1997). In the current study we assessed the spectrum of mutations in this gene in 16 unrelated families of Turkish origin. The three previously reported missense mutations (Met‐Ile at codon 680, Met‐Val at codon 694, and Val‐Ala at codon 726) accounted for 29 of the 34 disease alleles. In one patient in whom no disease mutation was identified, the clinical picture was atypical enough to raise questions regarding the diagnosis. These results imply that the origin of FMF in Turkey is heterogeneous, that molecular diagnosis of FMF is possible in the majority of cases and clinically helpful, and that delineation of the undiscovered disease mutation(s) in the remaining cases remains a high priority. Hum Mutat 11:456–460, 1998. © 1998 Wiley‐Liss, Inc.

show abstract

Mechanism of Action of Pyrogenic and Antipyretic Steroids in vitro

Bondy

Bodel

1971

Novartis Foundation Symposia

View full text Add to dashboard Cite

Familial paroxysmal polyserositis

Cited by 82 publications

References 48 publications

Recurrent Hereditary Polyserositis or Familial Mediterranean Fever: An Overview

Recurrent Hereditary Polyserositis or Familial Mediterranean Fever: An Overview

Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF)

Mechanism of Action of Pyrogenic and Antipyretic Steroids in vitro

Contact Info

Product

Resources

About