Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

The grandfather's fever.

Paola Ricci1, Alessandro Stella2, Enrica Settimo1

  • 1Division of Internal Medicine, Clinica Medica "Augusto Murri", Department of Biomedical Sciences and Human Oncology, University of Bari Medical School, Piazza Giulio Cesare 11, 70124, Bari, Italy.

Clinical Rheumatology
|August 12, 2019
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Targeting the Human Gut Microbiota-Between Conventional Therapy and Precision Genetic Engineering.

Nutrients·2026
Same author

What is your next step? A case of malabsorption with imitation game.

Internal and emergency medicine·2026
Same author

What is your next step? A case of a composite dyslipidemia with atherosclerotic trajectory: bridging primary care to internal medicine setting.

Internal and emergency medicine·2026
Same author

Risk Assessment and Prediction of Hepatocellular Carcinoma in Noncirrhotic Metabolic Dysfunction-Associated Steatotic Liver Disease.

International journal of molecular sciences·2026
Same author

Aquaporin membrane channels in the hepatobiliary tract: a model of complexity and clinical implications in health and disease.

Internal and emergency medicine·2026
Same author

Potential far-reaching metabolic consequences of cholecystectomy.

European journal of clinical investigation·2026

Familial Mediterranean fever (FMF) can manifest late in life, as seen in an 86-year-old man with a very late-onset diagnosis. Colchicine effectively managed his symptoms, highlighting its role in treating this rare presentation of FMF.

Area of Science:

  • Genetics
  • Immunology
  • Hepatology

Background:

  • Familial Mediterranean fever (FMF) is a prevalent hereditary monogenic recurrent fever syndrome.
  • FMF symptoms typically emerge at any age, with late-onset cases occurring after 40, though very late onset is rare.

Observation:

  • An 86-year-old man presented with recurrent fever, abdominal pain, and malaise, with a family history of FMF.
  • Genetic testing revealed MEFV gene variants (E148Q, R761H) in heterozygosity.
  • Elevated transaminases suggested FMF hepatitis co-occurring with nonalcoholic liver steatosis.

Findings:

  • The patient was diagnosed with a very late-onset FMF.
  • Colchicine treatment at 1 mg/day successfully controlled symptoms and normalized inflammatory and cholestatic markers.
Keywords:
Autoinflammatory diseasesFMFGeneticsGeriatricsPeriodic fever

Related Experiment Videos

  • The Apulian region shows a clustering of MEFV variants and FMF families across generations.

    • Implications:

    • This case underscores that FMF symptoms can appear even in advanced age.
    • Further research is needed to understand the genetic and environmental factors contributing to phenotypic variants of very late-onset FMF.
    • Colchicine remains the standard lifelong treatment for FMF patients, including those with late-onset presentations.