A familial case of TRAPS in a Russian population
Tumor necrosis factor (TNF) receptor-1-associated periodic syndrome (TRAPS) is a classical autoinflammatory syndrome (AIS). The paper describes repeated cases of TRAPS in an ethnic Russian family. Molecular genetic examination of a 9-year-old boy, his mother and his grandmother has revealed the hete...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
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IMA-PRESS LLC
2015-03-01
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| Series: | Современная ревматология |
| Subjects: | |
| Online Access: | https://mrj.ima-press.net/mrj/article/view/598 |
| Summary: | Tumor necrosis factor (TNF) receptor-1-associated periodic syndrome (TRAPS) is a classical autoinflammatory syndrome (AIS). The paper describes repeated cases of TRAPS in an ethnic Russian family. Molecular genetic examination of a 9-year-old boy, his mother and his grandmother has revealed the heterozygous mutation of c151C<T in exon 2 of the TNFRSF1 gene, which gives rise to amino acid substitution in pHis51Tyr protein sequencing. It is interesting that this mutation has been described in a North American population, but it has been encountered in only 2% of the patients with TRAPS in the European Registry (EuroTRAPS). This case alludes to the fact that in the Russian population there are families with TRAPS, which may have atypical mutations in the TNFRSF1A gene. Curiously, his mother and his grandmother were diagnosed with TRAPS only after its identification in the child (i. e. 34 and 45 years after the onset of the disease, respectively). Moreover, maternal blood tests permanently showed a pronounced increase in the acute-phase inflammatory markers missed by their local doctors. With each further generation, the family has exhibited an early onset of TRAPS and its progressively severer course with more time taken for its attacks. But if his mother and his grandmother had symptoms as erythema centrifugum, fasciitis, myalgias, and transient joint contractures, which are a distinguishing feature of this syndrome, the manifestations of the disease in the child were more non-specific. In the patient’s mother, the abovementioned characteristic symptoms of TRAPS occurred not at the onset of the disease, but just in adolescence. It is not inconceivable that if her son had not been adequately treated, he could also develop these symptoms with time. It is intriguing that the child was observed to have clinical hemorrhagic vasculitis, a condition associated with a number of AISs, primarily with familial Mediterranean fever. In this case, all the manifestations of the disease, including hemorrhagic vasculitis, were completely abolished in the child treated with the interleukin 1 inhibitor canakinumab. |
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| ISSN: | 1996-7012 2310-158X |