Unveiling the clinical spectrum of relapsing polychondritis: insights into its pathogenesis, novel monogenic causes, and therapeutic strategies.

Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of the cartilage, particularly in the ears, nose or respiratory tract, and more rarely, in the presence of other manifestations. The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis to an occasional organ or even life-threatening manifestations such as lower airway collapse. There is a lack of awareness about this disease is mainly due to its rarity. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. VEXAS syndrome is attributed to somatic mutations in methionine-41 of UBA1, the major E1 enzyme that initiates ubiquitylation. This new disease entity connects seemingly unrelated conditions: systemic inflammatory syndromes (relapsing chondritis, Sweet's syndrome, and neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma). Therefore, this article reviews the current literature on both disease entities.

Unveiling the clinical spectrum of relapsing polychondritis: insights into its pathogenesis, novel monogenic causes, and therapeutic strategies

Abstract Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of the cartilage, particularly in the ears, nose or respiratory tract, and more rarely, in the presence of other manifestations. The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis to an occasional organ or even life-threatening manifestations such as lower airway collapse. There is a lack of awareness about this disease is mainly due to its rarity. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. VEXAS syndrome is attributed to somatic mutations in methionine-41 of UBA1, the major E1 enzyme that initiates ubiquitylation. This new disease entity connects seemingly unrelated conditions: systemic inflammatory syndromes (relapsing chondritis, Sweet's syndrome, and neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma). Therefore, this article reviews the current literature on both disease entities.

Policondritis recidivante / Relapsing polychondritis

La policondritis recidivante, es una infrecuente enfermedad inflamatoria del tejido conjuntivo, de etiología desconocida. Se caracteriza por inflamación episódica y progresiva de tejido cartilaginoso, principalmente del pabellón auricular, nariz y árbol traqueo-bronquial. Se presenta el caso de una paciente femenina de 58 años, que consulta por enrojecimiento y dolor en pabellón auricular derecho, con episodios previos similares en ambos oídos y nariz, además de estudio por poliartritis simétrica. Al examen físico destaca: eritema, edema y dolor local en pabellón auricular, respetando lóbulo. Con exámenes complementarios normales y presencia de tres criterios característicos de McAdam, se diagnostica policondritis recividante, iniciando prednisona oral, con respuesta favorable. Pese a ser una enfermedad poco frecuente, es importante considerarla en casos recurrentes de eritema y dolor local en regiones cartilaginosas, principalmente en pabellón auricular y nariz, de tal forma de lograr un diagnóstico precoz, para suprimir las crisis y mejorar el pronóstico de estos pacientes.

Relapsing Polychondritis (RP) is a rare inflammatory connective tissue disease of unknown etiology. It is characterized by episodic and progressive inflammation of cartilage tissue, especially ear, nose and tracheobronchial tree. We report the case of 58 year old Chilean female patient, who consulted for redness and pain in the right ear, with similar previous episodes in both ears and nose; along with symmetric polyarthritis study it is presented. Physical examination highlighted erythema, edema and local pain in ear, respecting lobe. With normal complementary examinations and presence of three diagnostic criteria of McAdam y col. relapsing polychondritis diagnosed, initiating oral prednisone, with favorable response. Despite being a rare disease, it is important to consider in recurrent cases of erythema and local pain in cartilaginous regions, mainly in ear and nose, so to achieve early diagnosis, to suppress the crisis and improve the prognosis of these patients.