Sarcoidosis Accordion Q&A Notes
Sarcoidosis Active Recall Accordion Q&A Revision Notes
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Definition of Sarcoidosis
Chronic inflammatory disorder with granuloma formation in various organs. Primarily affects lungs, lymph nodes; can affect skin, eyes, heart, and nervous system.
Unknown.
Common in Scandinavians, Afro-Caribbeans, and people of African descent.
Clinical and radiographic evaluation due to lack of definitive test.
Löfgren Syndrome (acute), chronic features (elevated serum ACE, positive biopsy).
Affects young adults (20s to 40s) with a female preponderance.
Skin, eyes, liver (not usually clinically relevant), heart, nervous system.
Aetiology of Sarcoidosis
Precise cause remains unidentified.
Genetic predisposition: Inherited traits might play a role.
Environmental factors: External elements contribute to development.
Immune response: Abnormal immune reaction implicated.
Infectious trigger: Suspected as a potential cause.
Substance exposure: Occupational or infectious agents under consideration.
Risk Factors for Sarcoidosis
Affects individuals of any age, race, or gender. More common in people with African or Scandinavian heritage. Primarily manifests between ages 20 and 40.
Some cases may have a family history of the disease.
Certain jobs like firefighters and healthcare workers might elevate risk.
Pathophysiology of Sarcoidosis
Abnormal granulomas develop in affected organs.
Mainly comprise CD4+ T lymphocytes, forming clusters of immune cells.
Granulomas infiltrate organs causing inflammation, disturbing normal functioning of tissues and organs.
Precise triggers initiating the immune response are not known, and the mechanisms of granuloma formation are not fully understood.
Differential Diagnosis of Sarcoidosis
– Rheumatoid arthritis
– Lymphoma
– Metastatic malignancy
– Tuberculosis
– Multiple sclerosis
– Lung cancer
– Systemic lupus erythematosus
– Other interstitial lung diseases (including idiopathic pulmonary fibrosis)
– Multiple myeloma
– Eosinophilic granulomatosis with polyangiitis (EGPA)
Epidemiology of Sarcoidosis in the UK
Rare in the UK, estimated at 16 cases per 100,000 population per year. More prevalent among individuals of African or Caribbean descent.
Varies across regions:
– South Korea, Taiwan, Japan: 1-5 per 100,000
– Sweden, Canada: 140-160 per 100,000
Commonly seen in adults under 50 years old.
Sarcoidosis is usually sporadic, with familial occurrence in 3.6-9.6% of cases.
Clinical Presentation of Sarcoidosis
Persistent dry cough, shortness of breath, chest pain, wheezing, exertional dyspnea.
Fever, night sweats, malaise, fatigue, weight loss.
Rashes, nodules, erythema nodosum (common on legs), lupus pernio (uncommon but pathognomonic).
Granulomatous uveitis, dry eyes, glaucoma (may appear years later).
Bell’s palsy, lymphocytic meningitis, diabetes insipidus, various neurological symptoms.
Cardiomyopathy (rare), arrhythmias, symptoms of heart failure in young patients.
Commonly detected on chest X-ray. May affect axillary, cervical, and inguinal nodes. Salivary glands may be involved.
Rare symptoms. May cause significant hepatitis in <10% of cases. Can lead to deranged liver function tests.
Hypercalcaemia and hypercalciuria caused by granulomas affecting vitamin D3 metabolism. Can result in nephrolithiasis, neuropsychiatric symptoms, abdominal pain, and bone pain.
Inflammatory arthritis, periarticular soft-tissue swelling, tenosynovitis, dactylitis, osteopenia, associated myopathy.
Bone marrow (anaemia, immunosuppression), spleen (abdominal discomfort, splenomegaly), upper respiratory tract (nosebleeds, rhinitis, nasal obstruction), salivary glands (facial swelling, pain, parotitis).
Löfgren Syndrome (acute), chronic features (elevated serum ACE, positive biopsy).
Affects young adults (20s to 40s) with a female preponderance.
Small immune cell clusters in affected tissues.
Löfgren Syndrome.
Ethnicity, duration of illness, and organ involvement.
Erythema nodosum, bilateral hilar lymphadenopathy, fever, and arthralgia.
Black patients tend to have more severe pulmonary involvement. White patients may experience an acute presentation and remission around two years later.
Approximately 10-30% of patients.
Thorough examination to detect relevant signs. Examine skin, eyes, joints, muscles, lymph nodes, salivary glands, abdomen, cardiorespiratory signs, pulse for rhythm disturbances, cranial nerve function, and peripheral sensory/motor nerve function for neurological involvement.
Investigations for Sarcoidosis
Full Blood Count (FBC): May show leukopenia, eosinophilia, lymphopenia, or anemia.
Erythrocyte Sedimentation Rate (ESR): Often elevated in ~65% of cases.
Urea and Electrolytes (U&E), Creatinine: To assess renal function.
Serum Calcium: Elevated in 10-15% of cases; may be accompanied by increased phosphate and alkaline phosphatase.
Liver Function Tests (LFTs): Can show abnormalities.
Serum Angiotensin-Converting Enzyme (ACE): Elevated in ~60% of acute cases; can be used to monitor disease progression.
Plain Chest X-ray: Detects bilateral hilar or paratracheal lymphadenopathy.
High-Resolution CT Scan (HRCT): Used to identify interstitial lung disease when X-rays appear normal.
Reveal a restrictive defect in severe, progressive cases, such as shrinking lung syndrome.
Increased lymphocytes, especially raised CD4 ratio.
Involves taking samples from suspicious skin lesions or accessible lymph nodes, confirming multiple non-caseating epithelioid granulomas.
To assess eye involvement.
Checks for early signs of rhythm disturbance due to conducting system disease or hypercalcemia effects.
Assesses inflammatory activity, predicts pulmonary deterioration, and monitors improvement after treatment.
Detects extrapulmonary disease and often reveals a characteristic ‘lambda’ pattern.
Kveim’s Test.
Management of Sarcoidosis (UK)
Oral glucocorticoids (prednisolone) are often used.
Antimetabolites: Methotrexate, azathioprine, leflunomide, mycophenolate.
Anti-tumor necrosis factor (TNF) monoclonal antibodies: Infliximab, adalimumab for refractory cases.
Symptomatic treatment with oral corticosteroids. Bisphosphonates for osteoporosis prevention. Inhaled corticosteroids are not proven effective.
Corticosteroids as the initial choice for most forms.
Multifactorial treatment involving sarcoidosis and cardiac care.
Anterior uveitis: Topical corticosteroids.
Intermediate/posterior uveitis: Oral corticosteroids.
Deeper involvement: Intraocular corticosteroid injections.
Corticosteroid-sparing agents for cataracts and glaucoma.
Acute optic neuritis: High-dose intravenous corticosteroids.
Initial corticosteroid dose around 40-80 mg daily.
Cosmetic importance: Initial corticosteroid dose 20-40 mg daily.
Intralesional injections or topical creams for localized lesions.
Severe cases like lupus pernio may require infliximab therapy.
Non-steroidal anti-inflammatory agents before immunosuppressive therapy.
Essential for effective management.
Around 50%.
For refractory cases (third-line). Associated with toxicity and variable effectiveness.
Relieve symptoms, preserve organ function, prevent complications.
Lung transplantation. Sarcoidosis is the second most common indication for lung transplant in interstitial lung disease.
Prognosis of Sarcoidosis
Variable prognosis with a wide range of outcomes.
The disease can resolve on its own.
Approximately 10-30% of patients.
Lower than the general population.
Advanced pulmonary fibrosis often leads to premature death. Less often due to cardiac, CNS, or hepatic involvement.
Respiratory failure, pulmonary hypertension, haemoptysis from aspergilloma. Reduced life expectancy due to long-term complications.
About 20%. Mainly due to pulmonary fibrosis.
Reduced life expectancy due to long-term complications.
Influenza vaccination.
Essential for those using steroids.
Early treatment of extrapulmonary complications (e.g., uveitis, arrhythmias). Smoking cessation advice, though evidence is limited.
Complications of Sarcoidosis
Infections, pulmonary embolism, fibrotic lung disease, pulmonary hypertension.
Arrhythmias, heart failure.
Uveitis, sight impairment.
Chronic skin disease.
Common involvement. Rarely clinically significant.
Nerve damage, CNS impairment, stroke.
Salivary gland issues, nosebleeds.
Lymphatic problems, increased lymphoma risk, hypercalcaemia, kidney stones, joint damage.