[Recurrent bilateral pleurisy in an 80-year-old man].
An 80-year-old man was admitted with recurrent asphyxiating pleurisy, first attributed to heart failure. During the recurrent episodes, the patient presented fever, signs of inflammation, no signs of heart failure, and subnormal cardiac function, prompting further investigations which disclosed that the patient was a homozygous carrier of the severe type of periodic disease mutation. The patient's age at symptom onset and the clinical features of this case of periodic disease are exceptional. These points emphasize the usefulness of available genetic tests in difficult diagnostic cases. It also reflects current difficulties in trying to establish correlations between genotype and phenotype in periodic disease.
Herry
I
I
Service de Médecine Interne, Hôpital Cochin, Paris.
Schaison
F
F
Martin
A
A
Christoforov
B
B
Boissonnas
A
A
D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D010998:Pleurisy / Q000000981:diagnostic imaging / Q000209:etiology*; D011859:Radiography; D012008:Recurrence
Pleurésie bilatérale récidivante chez un homme de 80 ans.