Pulmonology Book

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Sarcoidosis

Aka: Sarcoidosis, Lupus Pernio, Lofgren's Syndrome
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  1. Epidemiology
    1. Affects young adults most commonly ages 20 to 40 years
    2. Prevalence in United States
      1. Most common in U.S. Blacks, Danes and Swedes
      2. Black patients: 40 per 100,000
      3. White patients: 5 per 100,000
  2. History
    1. First described by Hutchinson in 1877
  3. Pathophysiology
    1. Noncaseating granuloma formation
    2. Idiopathic
      1. Underlying genetic predisposition
      2. Precipitated by trigger
        1. Infection (e.g. Mycobacteria, Borrelia Burgdorferi)
        2. Environmental exposure (e.g. Beryllium, Aluminum)
    3. Common involvement sites (affects all organ systems)
      1. Lungs (>90%)
        1. Interstitial Lung Disease
      2. Lymphadenopathy: Hilar adnenopathy (>95%)
      3. Liver (50-80%)
        1. Hepatic Granulomas (86%)
        2. Hepatomegaly (20%)
        3. Increased Alkaline Phosphatase
      4. Spleen (40-80%)
      5. Skin lesions (25%)
        1. Lupus Pernio
        2. Dactylitis
      6. Eyes (20-50%)
        1. Anterior Uveitis (18%, also in Spondyloarthropathy)
        2. Posterior Uveitis (7%, Behcet's Disease)
        3. Lacrimal gland hypertrophy
        4. Conjunctival Nodules
        5. Keratoconjunctivitis (also in Sjogren's Syndrome)
        6. Proptosis (also in Wegener's Granulomatosis)
      7. Heart (5%)
        1. Tachyarrhythmias
        2. Cardiomyopathy
      8. Kidney (uncommon)
        1. Membranous Glomerulonephritis
        2. Nephrocalcinosis
        3. Nephrolithiasis
        4. Renal insufficiency
      9. Bone Marrow (4-40%)
        1. Leukopenia (28%)
        2. Eosinophilia (34%)
      10. Gastrointestinal
        1. Pancreas (6%)
        2. Stomach or esophagus
      11. Parotid Gland (5%, also seen in Sjogren's Syndrome)
      12. Skeletal muscle (4%, also seen in Polymyositis)
      13. Upper airway (3%, also in Wegener's Granulomatosis)
        1. Saddle-nose deformity
  4. Symptoms
    1. Pulmonary (presenting symptom in 40-45%)
      1. Dry cough
      2. Dyspnea
      3. Chest Pain (non-specific)
      4. Hemoptysis (rare initially)
    2. Constitutional symptoms (presenting symptom in 25%)
      1. Fever (associated with hepatic granulomas)
      2. Weight loss
      3. Fatigue
      4. Malaise
  5. Signs: Arthritis (occurs in 10-15% of cases)
    1. Early joint disease (first 6 months)
      1. Duration: weeks to 3 months
      2. Common joints involved
        1. Onset in ankles
        2. Spreads to knees
      3. Involves other joints
        1. Proximal interphalangeal joint
        2. Metacarpophalangeal joint
        3. Wrist
        4. Elbow
      4. Spares axial skeleton
      5. Associated with Erythema Nodosum
      6. No XRay changes
    2. Late joint disease (onset after 6 months)
      1. Common joints involved
        1. Knees
        2. Ankles
        3. Proximal interphalangeal joints
      2. Associated with chronic cutaneous Sarcoidosis
      3. XRay changes (see below)
  6. Signs: Skin changes (Lupus Pernio)
    1. Initial Characteristics
      1. Papular lesions (most common)
      2. Reddish-brown to purple color (violaceous Plaques)
      3. Scaling may occur
      4. Diameter: 1 to 3 cm
    2. Later Characteristics
      1. Lesions coalesce into Annular Lesions or Plaques
      2. Chronic form may show scarring and disfigurement
    3. Distribution (most commonly involves face)
      1. Periorbital area
      2. Nasolabial folds
      3. Mucous membranes
      4. Ears
      5. Fingers and Toes
    4. Other skin changes
      1. Dactylitis (sausage digits)
        1. Associated with chronic arthritis
  7. Signs: Lymphadenopathy
    1. Mediastinal lymph node involvement most common
    2. Peripheral Lymphadenopathy (non-tender, <5 cm)
      1. Cervical Lymphadenopathy
      2. Axillary Lymphadenopathy
      3. Inguinal Lymphadenopathy
      4. Epitrochlear Lymphadenopathy
  8. Staging
    1. Based on Chest XRay (see below)
  9. Radiology: Chest XRay (abnormal in 90% of cases)
    1. Type 0: No abnormality (<10% of cases)
    2. Type I: Lymphadenopathy alone (43% of cases)
      1. Bilateral hilar Lymphadenopathy
      2. Mediastinal Lymphadenopathy
      3. Right paratracheal Lymphadenopathy
    3. Type II: Adenopathy and Infiltrates (24% of cases)
      1. Lymphadenopathy as in Type I Chest XRay findings
      2. Parenchymal infiltrates
      3. Symptomatic respiratory disease presentation
    4. Type III: Infiltrates alone (13% of cases)
      1. Parenchymal infiltrates
  10. Radiology: Joint and Bone XRay in arthritis
    1. Acute Arthritis not associated with XRay changes
    2. Chronic Arthritis uncommonly with XRay changes
      1. Middle and distal phalanx bone destruction or cysts
      2. Trabecular changes to bone (honeycombing)
  11. Labs: Diagnosis
    1. Pulmonary Function Testing
      1. Findings consistent with Interstitial Lung Disease
    2. Serum Angiotensin-converting enzyme (Serum ACE)
      1. Increased in 50-80% of Sarcoidosis patients
    3. Gallium scan
      1. Panda and lambda patterns
    4. Biopsy or Cytology (Gold standard)
      1. Finding
        1. Discrete noncaseating epithelioid granuloma
      2. Biopsy sites
        1. Transbronchial lung biopsy (preferred site)
        2. Bronchoalveolar lavage (CD4-CD8 ratio >3.5)
        3. Skin biopsy of lesion
        4. Palpable peripheral lymph node biopsy
        5. Salivary Gland biopsy
  12. Labs: Additional baseline for Sarcoidosis monitoring
    1. Serum Chemistry
      1. Serum Calcium
      2. Renal Function tests
      3. Liver Function Tests
      4. Urinalysis
    2. Electrocardiogram
    3. Ophthalmology evaluation
    4. Tuberculin Skin Test
  13. Associated Conditions
    1. Erythema Nodosum (suggests better prognosis)
      1. Associated with acute arthritis (Lofgren's Syndrome)
      2. Not associated with chronic arthritis
      3. Most common associated nonspecific skin sign
  14. Differential Diagnosis
    1. Lung conditions
      1. See Interstitial Lung Disease
      2. See Hilar Adenopathy
      3. Infections
        1. Tuberculosis
        2. Coccidiodomycosis
        3. Blastomycosis
        4. Aspergillosis
        5. Histoplasmosis
        6. Pneumocystis carinii
    2. Arthritic Conditions
      1. Rheumatoid Arthritis
      2. Rheumatic Fever
      3. Systemic Lupus Erythematosus
      4. Gonococcal Arthritis
      5. Spondyloarthropathy
    3. Skin Differential Diagnosis
      1. See Annular Lesion
      2. See Erythema Nodosum
      3. Papular lesions similar to Sarcoidosis
        1. Granulomatous Rosacea
        2. Acne Vulgaris
      4. Plaque-type lesions similar to Sarcoidosis
        1. Psoriasis
        2. Lichen Planus
        3. Nummular eczema
        4. Discoid Lupus Erythematosus
        5. Granuloma Annulare
        6. Cutaneous T-Cell Lymphoma
        7. Kaposi's Sarcoma
        8. Secondary Syphilis
      5. Reference
        1. Katta (2002) Am Fam Physician 65(8):1581-84
  15. Management: Pulmonary Sarcoid
    1. Indications
      1. Dyspnea
      2. Persistent cough
      3. Widespread debilitating disease
    2. First-line: Systemic Corticosteroids (e.g. Prednisone)
      1. Indications
        1. Stage 2 or 3 lung changes
      2. Efficacy
        1. Short term benefit in moderate lung disease
        2. Unclear whether disease-modifying effect
      3. Protocol
        1. Start Prednisone at 20 to 40 mg per day
        2. Evaluate at 1-3 months for response
          1. No response: Taper off over 4-6 weeks
          2. Response
            1. Taper Prednisone to 5-10 mg/day
            2. Continue Prednisone for total of 12 months
        3. Consider Osteoporosis Prevention
          1. See Corticosteroid Associated Osteoporosis
      4. Reference
        1. Paramothayan (2002) JAMA 287:1301-7
        2. (1999) Am J Respir Crit Care Med 160:736-55
    3. Other management options
      1. Cytotoxic agents
        1. Used as alternative or as adjunct to Prednisone
        2. Agents
          1. Methotrexate (Rheumatrex) 10-25 mg weekly
          2. Azathioprine (Imuran)
      2. Immunomodulators
        1. Chloroquine
        2. Hydroxychloroquine (Plaquenil)
      3. Thoracic surgery indications
        1. Life-threatening Hemoptysis (lung resection)
        2. End-stage pulmonary Sarcoidosis (lung transplant)
  16. Management: Extrapulmonary Sarcoid
    1. Ophthalmologic Sarcoidosis: Uveitis
      1. First line: Topical Corticosteroids
      2. Refractory cases
        1. Prednisone (preferred)
        2. Methotrexate
    2. Cutaneous Sarcoidosis
      1. Erythema Nodosum lesions: NSAIDs
      2. Sarcoid lesions
        1. Intralesional Corticosteroids (e.g. Kenalog 5/ml)
          1. Inject lesions q2-3 weeks
        2. Other agents
          1. Doxycycline
          2. Minocycline
      3. Oral Corticosteroid indications
        1. Lupus Pernio
        2. Severe or disfiguring lesions
    3. Neurosarcoidosis: Cranial or Peripheral Neuropathy
      1. First-line: Oral Corticosteroids (e.g. Prednisone)
      2. Other agents: Cyclosporine or Azathioprine
  17. Monitoring
    1. Monitoring tools at visits
      1. History and physical
      2. Chest XRay
      3. Spirometry
      4. Specific testing when indicated
    2. Stage I Sarcoidosis
      1. Start with evaluations every 6 months
      2. May space visits to every 12 months if stable
      3. No follow-up if off therapy and stable for 3 years
    3. Stage II to IV Sarcoidosis
      1. Start with evaluations every 3-6 months
      2. Continue visits indefinately
  18. Prognosis
    1. Overall mortality (from respiratory failure): 1-5%
    2. Factors suggestive of worse prognosis
      1. Onset after age 40 years
      2. Black race
      3. Chronic Hypercalcemia
      4. Specific higher risk organ involvement
        1. Neurologic involvement
        2. Skin involvement (Lupus Pernio)
        3. Cardiac involvement
        4. Eye involvement (Chronic Uveitis)
        5. Renal involvement (Nephrocalcinosis)
        6. Cystic bone lesions
        7. Involvement of nasal mucosa
        8. Progressive pulmonary fibrosis
    3. Remission within 2 years
      1. Type I: 80% remission rate
      2. Type II: 30-50% remission rate
      3. Type III: <20% remission rate
  19. References
    1. Klippel (1997) Primer Rheumatic Diseases, AF, p. 325-7
    2. Wilson (1991) Harrison's IM, McGraw-Hill, p.1463-9
    3. Belfer (1998) Am Fam Physician 58(9):2041-50
    4. Hsu (2001) Am Fam Physician 64(2):289-96
    5. Wu (2004) Am Fam Physician 70:312-22

Chilblain lupus (C0024145)

Concepts Disease or Syndrome (T047)
MSH C535924
SnomedCT 11361009, 72470008, 238928005
English LUPUS PERNIO, Lupus pernio, NOS, CHILBLAIN LUPUS, CHBL, lupus pernio (diagnosis), lupus pernio, chilblain lupus erythematosus (diagnosis), chilblain lupus erythematosus, Chilblain lupus, chilblain lupus, Lupus pernio, Chilblain lupus erythematosus, Sarcoidosis, lupus pernio type, Chilblain lupus erythematosus (disorder), Sarcoidosis, lupus pernio type (disorder), lupus; pernio, pernio; lupus
Dutch lupus pernio, lupus; pernio, pernio; lupus
French Lupus pernio
German Lupus pernio
Italian Lupis pernio
Portuguese Lúpus pérnio
Spanish Lupus pernio, lupus pernio (concepto no activo), lupus pernio, sabañón en lupus eritematoso (trastorno), sabañón en lupus eritematoso, sarcoidosis, tipo lupus pernio (trastorno), sarcoidosis, tipo lupus pernio
Japanese 凍瘡状狼瘡, ﾄｳｿｳｼﾞｮｳﾛｳｿｳ
Czech Lupus pernio
Hungarian Lupus pernio
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Sarcoidosis (C0036202)

Definition (NCI) An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin.
Definition (CHV) a disease that produces messes especially in the liver, lungs, skin, and lymph nodes
Definition (CHV) a disease that produces messes especially in the liver, lungs, skin, and lymph nodes
Definition (CHV) a disease that produces messes especially in the liver, lungs, skin, and lymph nodes
Definition (CHV) a disease that produces messes especially in the liver, lungs, skin, and lymph nodes
Definition (CHV) a disease that produces messes especially in the liver, lungs, skin, and lymph nodes
Definition (CHV) a disease that produces messes especially in the liver, lungs, skin, and lymph nodes
Definition (CHV) a disease that produces messes especially in the liver, lungs, skin, and lymph nodes
Definition (CHV) a disease that produces messes especially in the liver, lungs, skin, and lymph nodes
Definition (CHV) a disease that produces messes especially in the liver, lungs, skin, and lymph nodes
Definition (MEDLINEPLUS)

Sarcoidosis is an inflammatory disease. It starts as tiny, grain-like lumps called granulomas, which most often appear in your lungs or lymph nodes. They can clump together and form larger lumps that attack other organs. Sarcoidosis often affects your skin, eyes or liver.

Sarcoidosis may be mild, or it can be severe and do lasting damage. It does not always cause symptoms, so you can have it without knowing it. Symptoms vary, depending on which organs are affected.

No one is sure what causes sarcoidosis. It affects men and women of all ages and races worldwide. However, it occurs mostly in people ages 20 to 40, African Americans, especially women, and people of Asian, German, Irish, Puerto Rican and Scandinavian origin.

NIH: National Heart, Lung, and Blood Institute
Definition (NCI) An inflammatory disease marked by the formation of granulomas (small nodules of immune cells) in the lungs, lymph nodes, and other organs. Sarcoidosis may be acute and go away by itself, or it may be chronic and progressive.
Definition (AIR) WHAT: Sarcoidosis: Sarcoidosis: a disorder of unknown etiology that affects many organ systems with noncaseating epithelioid cell granulomas. It has a special predilection for the lung and lymph tissues. WHY: Sarcoidosis can result in an acute arthritis commonly affecting the ankles and knees and less commonly the proximal interphalangeal joints, wrists, and elbows. The acute arthritis is symmetric and lasts for a few weeks. A less common chronic arthritis is destructive and may have dactylitis and telescoping digits. HOW: Sarcoidosis is a diagnosis of exclusion based on the clinical presentation and histology of biopsy tissue.
Definition (CSP) inflammatory disease characterized by small lumps or granulomas in lymph nodes and other organs.
Definition (MSH) An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands.
Concepts Disease or Syndrome (T047)
MSH D012507
ICD9 135
ICD10 D86, D86.9, D80-D89
SnomedCT 31541009, 154425004
English Besnier-Boeck Disease, Boeck's Sarcoid, Disease, Schaumann, Sarcoid, Boeck's, Sarcoidoses, Sarcoidosis, Schaumann Disease, Besnier Boeck Disease, Boecks Sarcoid, BESNIER-BOECK-SCHAUMANN DISEASE, BOECK SARCOID, HUTCHINSON-BOECK SYNDROME, LYMPHOGRANULOMATOSIS, BENIGN, SARCOIDOSIS, SCHAUMANN SYNDROME, Sarcoidosis, NOS, Boecks sarcoidosis, Sarcoidosis, unspecified, Boeck's sarcoidosis, SCHAUMANN DIS, BESNIER BOECK DIS, lymphogranulomatosis (benign), Besnier Boeck disease, sarcoidosis (diagnosis), sarcoidosis, benign lymphogranulomatosis, benign lymphogranulomatosis (diagnosis), benign lymphogranulomatosis of Schaumann, Sarcoid, Sarcoidosis NOS, SARCOID, Besnier-Boeck-Schaumann Syndrome, Syndrome, Besnier-Boeck-Schaumann, Syndrome, Schaumann, Schaumann's Syndromes, Boeck's Disease, Besnier Boeck Schaumann Syndrome, Boecks Disease, Syndrome, Schaumann's, Schaumann's Syndrome, Boeck Disease, Schaumann Syndrome, Sarcoidosis [Disease/Finding], boeck's disease, sarcoids, schaumann disease, schaumann syndrome, boeck's sarcoid, schaumann's disease, sarcoid, Besnier-Boeck-Schaumann's disease, Boeck's disease, Schaumann's disease, Besnier-Boeck-Schaumann syndrome, Boeck's sarcoid, Benign lymphogranulomatosis of Schaumann, Darier-Roussy sarcoid, Lupus pernio of Besnier, Miliary lupoid of Boeck, Sarcoidosis (disorder), lymphogranulomatosis, benign; lymphogranulomatosis, Hutchinson-Boeck, Schaumann; benign lymphogranulomatosis, Schaumann; disease or syndrome, Besnier-Boeck, Besnier; lupus pernio, Boeck; disease, Boeck; sarcoid, lymphogranulomatosis; benign, sarcoid; Boeck, sarcoid; Darier-Roussy, syndrome; Schaumann, Darier-Roussy; sarcoid, Boeck Sarcoid, Besnier-Boeck-Schaumann disease, Boeck Sarcoid, any site, Benign Lymphogranulomatosis, Benign Lymphogranulomatosis, Schaumann's, Lupus pernio, Besnier, Miliary Lupoid of Boeck, Darier-Roussy Sarcoid, Sarcoid NOS
French SARCOIDOSE, Sarcoïde, Maladie de Schaumann, Sarcoïdose SAI, Maladie de Boeck, Sarcoidose, Lymphogranulomatose bénigne, Sarcoïdose, Maladie de Besnier-Boeck-Schaumann
Portuguese SARCOIDOSE, Doença de Besnier-Boeck-Schaumann, Sarcóide, Sarcoidose NE, Síndrome de Schaumann, Doença de Boeck, Doença de Besnier-Boeck, Sarcóide de Boeck, Sarcoidose
Spanish SARCOIDOSIS, Enfermedad de Schaumann, Enfermedad de Besnier-Boeck-Schaumann, Enfermedad de Boeck, Sarcoidosis NEOM, Sarcoide, Sarcoidosis, linfogranulomatosis benigna de Schaumann, lupoide miliar de Boeck, lupus pernio de Besnier, sarcoide de Boeck, sarcoide de Darier - Roussy, sarcoidosis (trastorno), sarcoidosis, síndrome de Besnier - Boeck - Schaumann, Enfermedad de Besnier-Boeck, Sarcoide de Boeck
German SARKOIDOSE, Besnier-Boeck-Schaumann-Krankheit, Sarkoid, Sarkoidose NNB, Boeck-Krankheit, Sarkoidose, nicht naeher bezeichnet, Besnier-Boeck-Schaumann-Syndrom, Boeck-Sarkoid, Morbus Schaumann, Sarkoidose, Schaumann-Krankheit
Dutch ziekte van Schaumann, ziekte van Besnier-Boeck-Schaumann, ziekte van Boeck, sarcoïd, sarcoïdose NAO, Besnier; lupus pernio, Boeck; sarcoïd, Boeck; ziekte, Darier-Roussy; sarcoïd, Schaumann; benigne lymfogranulomatose, Schaumann; ziekte of syndroom, benigne; lymfogranulomatose, lymfogranulomatose; benigne, sarcoïd; Boeck, sarcoïd; Darier-Roussy, syndroom; Schaumann, Sarcoïdose, niet gespecificeerd, sarcoidose, Besnier-Boeck-ziekte, Schaumann-ziekte, Ziekte van Besnier-Boeck, Boeck-sarcoïd, Sarcoïdose
Italian Sarcoide, Malattia di Boeck, Sarcoidosi NAS, Malattia di Schaumann, Malattia di Besnier-Boeck, Malattia di Besnier-Boeck-Schaumann, Sarcoide di Boeck, Sarcoidosi
Japanese サルコイド, ベニエー・ベック・シャウマン病, シャウマン病, サルコイドーシスＮＯＳ, ｻﾙｺｲﾄﾞｰｼｽ, ｻﾙｺｲﾄﾞ, ﾍﾞﾆｴｰﾍﾞｯｸｼｬｳﾏﾝﾋﾞｮｳ, ﾍﾞｯｸﾋﾞｮｳ, ｻﾙｺｲﾄﾞｰｼｽNOS, ｼｬｳﾏﾝﾋﾞｮｳ, ベニエー･ベック･シャウマン病, Boeckサルコイド, サルコイドーシス, Schaumann病, サルコイド症, ベック病, ベック類肉腫, ベニエー-ベック病, 良性リンパ肉芽腫, 良性リンパ肉芽腫症, 血管類狼瘡, 類肉腫, 類肉腫症, ザルコイドーシス, ベズニエ-ベック-シャウマン症候群, ベックサルコイド
Swedish Sarkoidos
Czech sarkoidóza, Sarkoidóza NOS, Boeckova nemoc, Besnier-Boeck-Schaumannova nemoc, Schaumannova nemoc, Sarkoidóza, Sarkoid
Finnish Sarkoidoosi
Russian BEN'E-BEKA BOLEZN', BEKA SARKOID, SARKOIDOZ, SHAUMANNA BOLEZN', БЕКА САРКОИД, БЕНЬЕ-БЕКА БОЛЕЗНЬ, САРКОИДОЗ, ШАУМАННА БОЛЕЗНЬ
Korean 상세불명의 사르코이도시스, 사르코이도시스
Croatian SARKOIDOZA
Polish Sarkoidoza
Hungarian Sarcoidosis, Schaumann-betegség, Sarcoidosis k.m.n., Besnier-Boeck-Schaumann-betegség, Boeck-betegség, Sarcoid
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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