Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals per year) and among African Americans (18-71 cases per 100,000 individuals per year) 2) Lowest in Asian countries (1 case per 100,000 individuals per year) 3) Sex: female > male (2:1) 4) Average age onset: 40-55; f 50-60y (hormonal changes around menopause) and m 30-50y 5) Global mortality: 9-14 cases per 1,000 person-years and 5-year survival is 93-95% Pathophysiology: 1) T-cell dysfunction and increased B-cell activity → local immune hyperactivity and inflammation 2) Formation of non-caseating granulomas within the lungs and the lymphatic system 3) Fibrosis and damage of organs and tissue: Epithelioid cells → cytokines to fibroblasts → fibrosis. 4) Calcium dysregulation: activated macrophages produce 1-alpha hydroxylase → ↑ 1,25 hydroxyvitamin D (hypervitaminosis D) hyperphosphatemia, hypercalcemia, and possibly renal failure Clinical Features: • Many symptoms are not caused by granulomas in a specific location but result from their release of mediators such as hypercalcaemia (~10% of patients) and/or hypercalcuria (~40%); fatigue(→ post-sarcoidosis fatigue syndrome). 30-50% patients have no symptoms at the time of diagnosis (e.g. incidental CXR finding). • Natural history: Self-limiting, chronic but stable or chronic and progressive Acute sarcoidosis (1/3 of cases): 50% remits spontaneously within approx. 2 years and many others 5 years; remission less likely after 5 years. Progression to chronic sarcoidosis is rare. 1. General: fever, malaise, lack of appetite, weight loss 2. Pulmonary: dyspnea, cough, chest pain 3. Extrapulmonary: ankle arthritis, anterioruveitis, erythema nodosum 4. Otherinitial presentations: epileptic seizure, cranial neuropathy or cardiac arrest Chronic sarcoidosis (2/3 of cases): rarely preceded by acute sarcoidosis Pulmonary and extrapulmonary (peripheral lymph nodes: 13-15%, skin (16-32%): lupus pernio, papules, nodules; anterior/posterior MSK, heart (2-5%), liver (pain/abnormal LFT): 12-20%, spleen (pain): 5-10%, nervous system (Conductance disturbances, arrhythmias, dyspnoea, fatigue (for example, cardiomyopathy) and syncope): 2-5% Specific sarcoidosis syndromes: (distinct symptoms) • Löfgren syndrome: ACUTE, fever, migratory polyarthritis(symmetrical, ankles), erythema nodosum (extensor surface of legs), bilateral hilarlymphadenopathy • Heerfordt syndrome: Chronicclinical presentation with fever, parotitis, uveitis (iridocyclitis) and facial palsy. Dr. Jorge Cortés @Jcortesizaguirr #Sarcoidosis #Diagnosis #Management #Signs #Symptoms
