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Updated: Jan 20, 2026
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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
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p.RQ92 mutation associated with amyloidosis
Francisco José Nicolás-Sánchez1, Juan Ignacio Aróstegui-Gorospe2, Judit Pallarés-Quixal3
1Servicio de Medicina Interna, Hospital de Santa María, Lleida, España.
Reumatologia Clinica
|August 19, 2019
Summary
Secondary amyloidosis, a complication of autoinflammatory diseases, was found in a patient with a rare TNFRSF1A gene variant. This finding highlights the need for early diagnosis in carriers of the p.R92Q variant to prevent complications.
Area of Science:
- Genetics
- Immunology
- Pathology
Background:
- Secondary amyloidosis is a known complication of certain monogenic autoinflammatory diseases.
- Tumor Necrosis Factor Receptor Superfamily Member 1A (TNFRSF1A) associated autoinflammatory syndrome (TRAPS) typically involves cysteine residue mutations.
Observation:
- An 83-year-old male presented with iron deficiency anemia.
- Duodenal biopsy revealed secondary AA-type amyloidosis.
- Genetic analysis identified a heterozygous p.R92Q variant in the TNFRSF1A gene.
Findings:
- The identified p.R92Q variant in TNFRSF1A has not been previously associated with secondary amyloidosis in TRAPS.
- This case demonstrates a potential link between the p.R92Q variant and AA-type amyloidosis.
Implications:
- Secondary amyloidosis may occur in individuals carrying the TNFRSF1A p.R92Q variant.
- Early diagnosis of amyloidosis in these patients is crucial for managing and preventing potential complications.
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