RESUMEN
Isolated arteritis of the lower limb vessels is an extremely rare condition. The use of modern vascular imaging techniques substantially facilitates and accelerates the diagnostics. In the isolated lower limb arteritis, it is always necessary to exclude Takayasu's and giant-cell arteritis. We present the case of a female patient with an isolated lower extremity arteritis without any other symptoms of systemic vascular damage or systemic autoimmune disease. Immunosuppressive therapy is obligatory in this case. Interdisciplinary co-operation is required for rapid diagnosis and successful therapy. Our patient has consented to the publication of this report.
Asunto(s)
Arteritis/diagnóstico por imagen , Arteritis/patología , Pierna/irrigación sanguínea , Arteritis/tratamiento farmacológico , Femenino , Humanos , Inmunosupresores/uso terapéutico , Masculino , Persona de Mediana EdadRESUMEN
We present a case of a 42-year-old woman with Mendelian susceptibility to mycobacterial disease. The disease was diagnosed at an adult age with relatively typical clinical manifestations; the skeleton, joints, and soft tissues were affected by nontuberculous mycobacteria: Mycobacterium lentiflavum, M. kansasii, and M. avium. A previously published loss-of-function and functionally validated variant NM_000416.2:c.819_822delTAAT in IFNGR1 in a heterozygous state was detected using whole-exome sequencing. After interferon-γ therapy was started at a dose of 200 µg/m2 three times a week, there was significant clinical improvement, with the need to continue the macrolide-based combination regimen. In the last 4 months, she has been in this therapy without the need for antibiotic treatment.