Sarcoidosis

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. It is an ubiquitous disease with incidence (varying according to age, sex, race and geographic origin) estimated at around 16.5/100,000 in men and 19/100,000 in women. The lung and the lymphatic system are predominantly affected but virtually every organ may be involved. Other severe manifestations result from cardiac, neurological, ocular, kidney or laryngeal localizations. In most cases, sarcoidosis is revealed by persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and erythema nodosum. Abnormal metabolism of vitamin D3 within granulomatous lesions and hypercalcemia are possible. Chest radiography is abnormal in about 90% of cases and shows lymphadenopathy and/or pulmonary infiltrates (without or with fibrosis), defining sarcoidosis stages from I to IV. The etiology remains unknown but the prevailing hypothesis is that various unidentified, likely poorly degradable antigens of either infectious or environmental origin could trigger an exaggerated immune reaction in genetically susceptible hosts. Diagnosis relies on compatible clinical and radiographic manifestations, evidence of non-caseating granulomas obtained by biopsy through tracheobronchial endoscopy or at other sites, and exclusion of all other granulomatous diseases. The evolution and severity of sarcoidosis are highly variable. Mortality is estimated at between 0.5–5%. In most benign cases (spontaneous resolution within 24–36 months), no treatment is required but a regular follow-up until recovery is necessary. In more serious cases, a medical treatment has to be prescribed either initially or at some point during follow-up according to clinical manifestations and their evolution. Systemic corticosteroids are the mainstay of treatment of sarcoidosis. The minimal duration of treatment is 12 months. Some patients experience repeated relapses and may require long-term low-dose corticosteroid therapy during years. Other treatments (immunosuppressive drugs and aminoquinolins) may be useful in case of unsatisfactory response to corticosteroids, poor tolerance and as sparing agents when high doses of corticosteroids are needed for a long time. In some strictly selected cases refractory to standard therapy, specific antiTNF-α agents may offer precious improvement. Some patients benefit from topical corticosteroids

Atteintes pulmonaires diffuses et ganglionnaires intra-thoraciques associées au déficit immunitaire commun variable avec granulomatose

Le déficit immunitaire commun variable (DICV) est le plus fréquent des déficits immunitaires primitifs symptomatiques. La présence d'une hypogammaglobulinémie sur l'électrophorèse des protéines plasmatiques permet le diagnostic, après exclusion de tout autre cause d'hypogammaglobulinémie. Les bases immunologiques du DICV ne sont pas précisément connues mais impliquent certainement un défaut de coopération lymphocytaire. Des proliférations lymphoïdes et des lésions granulomateuses peuvent se voir dans plusieurs organes au cours du DICV. Des tableaux "sarcoïd-like" ont été décrit au cours des DICV. Des anomalies immunologiques spécifiques s'associeraient aux granulomes et à une splénomégalie au cours de DICV. Notre travail concerne les atteintes médiastinales et pulmonaires chez 10 patients ayant un DICV et une granulomatose. Dans 5 cas le diagnostic de granulomatose médiastino-thoracique est évoqué alors que le DICV est déjà connu. Les patients se répartissent en trois groupes de présentation clinique respiratoire très différente. Pour 6 patients l'atteinte médiastino-thoracique est dominée par la granulomatose thoracique ou, pour une patiente une pneumopathie interstitielle lymphoïde dans un contexte de granulomatose splénique. Deux patients sont décédés d'insuffisance respiratoire terminale liée à une fibrose pulmonaire dans un contexte de splénomégalie persistante. Chez 2 patients la symptomatologie respiratoire est dominée par la dilatation des bronches. Les tableaux "sarcoïd-like" au cours du DICV posent un problème diagnostique en raison de lésions granulomateuses pouvant être liées au DICV. Mais aussi des difficultés de prise en charge car la granulomatose sarcoïdienne s'associe souvent aux autres atteintes pulmonaires du DICVPARIS12-CRETEIL BU Médecine (940282101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Management of sarcoidosis in clinical practice

Sarcoidosis is a systemic disease of unknown cause with very diverse presentation, outcome, severity and need for treatments. While some presentations may be very typical, for many patients, the presentation is nonspecific, with shared associations with other diseases at times being by far more frequent or misleading, which can be a cause of significant delay and often several consultations before a diagnosis of sarcoidosis can be confirmed. This is particularly the case when pulmonary manifestations are in the forefront. The diagnosis relies on three well-known criteria. In clinical practice, these criteria are not easily implemented, particularly by physicians without expertise in sarcoidosis, which can lead to a risk of either under- or over-diagnosis. Qualifying the presentation according to sarcoidosis diagnosis is essential. However, it is often not easy to classify the presentation as typical versus compatible or compatible versus inconsistent. Further investigations are needed before any other hypothesis is to be considered. It is important to detect events and to determine whether or not they are indicative of a flare of sarcoidosis. Eventually, treatment needs to be related to the correct indications. The evaluation of the efficacy and safety of treatments is crucial. To address such issues, we present five emblematic cases that illustrate this

How to Tackle the Diagnosis and Treatment in the Diverse Scenarios of Extrapulmonary Sarcoidosis

International audienceExtrapulmonary sarcoidosis occurs in 30-50% of cases of sarcoidosis, most often in association with pulmonary involvement, and virtually any organ can be involved. Its incidence depends according to the organs considered, clinical phenotype, and history of sarcoidosis, but also on epidemiological factors like age, sex, geographic ancestry, and socio-professional factors. The presentation, symptomatology, organ dysfunction, severity, and lethal risk vary from and to patient even at the level of the same organ. The presentation may be specific or not, and its occurrence is at variable times in the history of sarcoidosis from initial to delayed. There ar

Sarcoidosis-Like Cancer-Associated Granulomatosis: Characteristics and a Case-Control Comparison with Sarcoidosis

(1) Background: Systemic granulomatosis developed in a context of malignancy has already been reported. Our objective was to describe the clinical, radiological, functional, biological, and evolutive characteristics of sarcoidosis-like cancer-associated granulomatosis (SLCAG) and to compare them to those of sarcoidosis. (2) Methods: 38 patients with a biopsy-proven SLCAG developed after a diagnostic of malignancy were included. The control group consisted of sarcoidosis patients matched for age, sex, and radiologic stage. Clinical, biological, physiological, radiological, and outcome data were collected. (3) Results: The mean age of SLCAG patients was 51 ± 14 years. They were diagnosed within 15 ± 14 months of the cancer diagnosis (breast cancer most frequently). All SLCAG patients presented a thoracic involvement, extrathoracic locations were observed in 32% of subjects. SLCAG was more often asymptomatic than sarcoidosis (p < 0.0001). During follow-up, systemic treatment was less often required in SLCAG than in sarcoidosis (58% vs. 32%, p = 0.04 respectively) and SLCAG were characterized by a significantly less severe progression profile according to the Sarcoid Clinical Activity Classification, with a complete recovery more frequent at 5 years (p = 0.03). (4) Conclusion: This case-control study shows that SLCAG differs from sarcoidosis with a significantly more benign course. These results might argue for true differences in the physiopathology, which remain to be elucidated