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Published on: September 9, 2012

Extensive thrombosis in a patient with familial Mediterranean fever, despite hyperimmunoglobulin D state in serum.

Kowoon Joo1, Won Park, Moon-Hyun Chung

  • 1Department of Internal Medicine, Inha University Hospital, Incheon, Korea.

Journal of Korean Medical Science
|February 13, 2013
PubMed

Insights

Familial Mediterranean fever (FMF), a rare genetic disorder, can manifest with severe venous thrombosis and elevated Immunoglobulin D (IgD) levels. Early suspicion of FMF is crucial, especially in cases of unexplained thrombosis and elevated IgD.

Area of Science:

  • Genetics
  • Immunology
  • Vascular Medicine

Background:

  • Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease primarily affecting Mediterranean and Middle Eastern populations.
  • Diagnosis can be challenging, particularly outside endemic areas, due to its varied presentation and rarity.

Observation:

  • A 22-year-old male presented with recurrent fever, arthralgia, and abdominal pain, initially suspected as periodic fever syndromes.
  • Elevated serum Immunoglobulin D (IgD) levels and complex MEFV gene mutations (p.Glu148Gln, p.Pro369Ser, p.Arg408Gln) were identified.
  • 3D angio CT revealed extensive venous thrombosis, including splenic, superior mesenteric, main portal, and intrahepatic portal veins.

Findings:

  • This case highlights an unusual presentation of FMF in an adult Korean male, characterized by multiple venous thromboses.
  • The co-occurrence of elevated IgD levels and venous thrombosis in this FMF patient is a significant finding.

Implications:

  • Elevated IgD levels in conjunction with venous thrombosis should raise suspicion for Familial Mediterranean fever.
  • This report underscores the importance of considering FMF in the differential diagnosis of unexplained thrombosis, even in non-endemic regions and adult patients.
  • Further research may elucidate the specific mechanisms linking FMF, elevated IgD, and thrombotic events.
Keywords:
Familial Mediterranean FeverHereditary Autoinflammatory DiseasesImmunoglobulin DThrombosis

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