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[Periodic fever due to hyper-IgD syndrome]
I M Wauters1, R K Linskens, C D Stehouwer
1Academisch Ziekenhuis Vrije Universiteit, afd. Interne Geneeskunde, Amsterdam.
Nederlands Tijdschrift Voor Geneeskunde
|May 9, 2000
Summary
Hyperimmunoglobulinaemia D syndrome (HIDS) is a rare genetic disorder causing periodic fevers and inflammation. Recent identification of a causative gene mutation offers new avenues for understanding this challenging condition.
Area of Science:
- Genetics
- Immunology
- Pediatrics
Background:
- Hyperimmunoglobulinaemia D syndrome (HIDS) is a rare autoinflammatory disorder characterized by recurrent episodes of fever and systemic inflammation.
- The condition often presents in early childhood and can be challenging to diagnose due to its variable symptoms and lack of specific biomarkers.
Observation:
- A 45-year-old male patient presented with a lifelong history of periodic fevers unresponsive to various treatments.
- Clinical manifestations included fever, diarrhea, arthralgias, abdominal pain, vomiting, headache, lymphadenopathy, skin lesions, and splenomegaly.
- Laboratory findings revealed an acute-phase response with granulocytosis, elevated erythrocyte sedimentation rate, and increased serum IgD and IgA levels.
Findings:
- The patient was ultimately diagnosed with Hyperimmunoglobulinaemia D syndrome (HIDS).
- HIDS attacks typically manifest every 4-6 weeks, lasting 3-7 days, with a constellation of symptoms including fever, gastrointestinal distress, and joint pain.
- A recent identification of a causative gene mutation provides a molecular basis for the syndrome.
Implications:
- The identification of the causative gene mutation is a significant advancement in understanding HIDS.
- This discovery may pave the way for improved diagnostic strategies and the development of targeted therapies.
- Further research into the genetic underpinnings of HIDS is crucial for developing causal treatments and improving patient outcomes.