Paradigm shift in monogenic autoinflammatory diseases and systemic vasculitis: The VEXAS syndrome. / Cambio de paradigma en las enfermedades autoinflamatorias monogénicas y las vasculitis sistémicas: el síndrome VEXAS.

VEXAS syndrome was described by the end of 2020 as an autoinflammatory disease caused by post-zygotic variants in the UBA1 gene. VEXAS syndrome occurs in adult males with recurrent fever, arthralgia/arthritis, ear/nose chondritis, neutrophilic dermatosis, lung inflammation, venous thrombosis, and different types of vasculitis. Common laboratory changes include raised acute phase reactants and macrocytic anemia. The coexistence of myelodysplasia is frequent, and bone marrow vacuolization of myeloid and erythroid precursors is characteristic. Glucocorticoids are effective at medium-high doses, but the remaining immunosuppressive drugs, either conventional or biological, have showed limited or absent efficacy. Azacitidine has been associated with a good response, especially in patients with accompanying myelodysplastic syndrome. Allogeneic hematopoietic stem cell transplantation appears to be the only curative therapy by now. VEXAS syndrome has become a paradigm shift in the diagnosis and treatment of autoinflammatory diseases and systemic vasculitis.

Acute dilated cardiomyopathy in a patient with beriberi and cryoglobulinaemic vasculitis: an unusual potential complication of two rare disorders.

We report the case of a 45-year-old patient who presented with acute dilated cardiomyopathy. During admission the patient was consecutively diagnosed with cryoglobulinaemic vasculitis and beriberi. In both diseases, cardiac involvement may occur as dilated cardiomyopathy. Thiamin deficiency was the final cause for the severe cardiac manifestations (cardiac acute beriberi or Shoshin syndrome), which returned to normal after thiamin supplementation.

Treatment of primary systemic necrotizing vasculitides: the role of biotherapies.

Treatments of systemic necrotizing vasculitides have progressed markedly over the past few decades. The first attempts to obtain better-adapted therapeutic strategies evaluated the indications of conventional drugs, and their abilities to prolong survival and prevent relapses, while decreasing the severity and number of side effects. The French Vasculitis Study Group, the European Vasculitis Study Group or the Vasculitis Clinical Research Consortium organized most of the prospective clinical trials that have contributed to optimizing targeted treatment strategies. Recent therapeutic strategies include: immunomodulating methods (e.g. plasma exchanges), products (e.g. intravenous immunoglobulins) or, more recently, new agents called biotherapies. Some of the latter, mainly anti-CD20 monoclonal antibodies, have achieved promising effects and are now being evaluated in prospective trials.

Manifestaciones oculares de las vasculitis primarias sistémicas / Ocular manifestations of primary systemic vasculitis

Las vasculitis primarias (VP) pueden cursar con diversas manifestaciones oculares y estas pueden ser las únicas al inicio de la enfermedad. La afección ocular es común en las VP y potencialmente conduce a morbilidad significativa, incluyendo pérdida de la visión. El diagnóstico y tratamiento tempranos mejoran el pronóstico visual. El abordaje terapéutico constituye un reto y debe ser multidisciplinario. El tratamiento de las manifestaciones oculares corresponde al de la enfermedad de base. La primera línea de tratamiento son los corticoesteroides sistémicos, generalmente combinados con fármacos inmunomoduladores, que fungen también como ahorradores de glucocorticoides. Existen nuevos tratamientos, como los agentes biológicos, que parecen prometedores para las alteraciones oculares de las VP (AU)

A variety of ophthalmic manifestations can occur in patients who have systemic vasculitides and may be the presenting feature. Ocular involvement is frequently found and can result in significant morbidity, even in blindness. Early diagnosis and treatment may improve visual outcome. The management is challenging and requires a multidisciplinary approach. Treatment of ocular manifestations and systemic disease usually follows the same path. The mainstay of treatment is the use of systemic corticosteroids, usually combined with steroid-sparing immunosuppressive drugs. New, promising, emerging therapies rely on the development of biologic agents, which seem useful in the ocular manifestations of systemic vasculitides (AU)

[Ocular manifestations of primary systemic vasculitis]. / Manifestaciones oculares de las vasculitis primarias sistémicas.

A variety of ophthalmic manifestations can occur in patients who have systemic vasculitides and may be the presenting feature. Ocular involvement is frequently found and can result in significant morbidity, even in blindness. Early diagnosis and treatment may improve visual outcome. The management is challenging and requires a multidisciplinary approach. Treatment of ocular manifestations and systemic disease usually follows the same path. The mainstay of treatment is the use of systemic corticosteroids, usually combined with steroid-sparing immunosuppressive drugs. New, promising, emerging therapies rely on the development of biologic agents, which seem useful in the ocular manifestations of systemic vasculitides.