Saturday, May 20, 2017

See also:

This protocol was last updated before 2017

Definitions

  • Heerfordt's syndrome = "uveoparotid fever" - sarcoidosis manifest as unilateral facial nerve palsies and is characterized by parotid gland enlargement, fever, uveitis, and cranial nerve palsies.
  • Löfgren's syndrome (especially in Caucasians): erythema nodosum, fever, arthralgias, and radiographic evidence of bilateral hilar adenopathy - likely Sarcoidosis (Parrish 2009)

Genetics of Sarcoidosis (Muller-Quernheim 2008)

  • Differences in prevalence and incidence between ethnic groups and races as well as clusters of cases in families supports genetic contribution to the disease
  • Lifetime risk of sarcoidosis by race (Rybicki 1997):
    • African-American: 2.4%
    • Causcasians in U.S.: 0.85%
  • Clinical presentation varies between ethnic groups

Diagnosis

  • Diagnosis of exclusion - relies on clinical/radiographic/histopath examination
  • Radiographic
    • Chest radiography in all cases
    • PET and gallium scanning of questionable value - may useful in specfic cases
    • Other imaging studies based on organ involvement
  • Tissue biopsy
    • Noncaseating granulomas
    • If positive for noncaseating granuloma
      • Further w/u requires recognition that sarcoidosis is a systemic disease
      • In addition to organ-involvment consultations, needs cardiac and opthalmologic w/u
  • Lab studies
    • Serum calcium
      • 10% of patients with sarcoidosis will have at least transient hypercalcemia; hypercalciuria more common (Parrish 2009)
      • Macrophages in patients with sarcoidosis are capable of the hydroxylation that produces the active metabolite of vitamin D which is the likely causative factor for hypercalcemia (Sharma 1996)
    • Urinalysis
    • Liver enzymes
    • CBC
    • SACE (serum angiotensin converting enzyme) (Parrish 2009)
      • At one point thought to be diagnostic of sarcoidosis
      • Epithelioid cells of sarcoid granulomas produce serum angiotensin converting enzyme
      • Not thought to be sensitive/specific enough to be used as diagnostic tool
      • SACE also elevated:  diabetes mellitus, cirrhosis, acute hepatitis, chronic renal disease, silicosis, Gaucher's disease, leprosy, asbestosis, and berylliosis

References

Parrish S and Turner JF: "Diagnosis of Sarcoidosis"  Disease a Month Vol 55 Issue 11  2009

Sharma O.P.:  Vitamin D, calcium, and sarcoidosis.  Chest 109. 535-539.1996; 

Muller-Quernheim J, Schurmann M, Hoffmann S, Gaede KI, Fischer A, Prasse A, Zissel G, and Schreiber S: Genetics of Sarcoidosis. Clinics in Chest Medicine Vol 29, Issue 3 (Sept 2008)

Rybicki B.A., Major M., Popovich , Jr , JrJ., et al:  Racial differences in sarcoidosis incidence: a 5-year study in health maintenance organization.  Am J Epidemiol 145. 234-241.1997

Aditi Katwala, Matthew R. Hoffman, Henry T. Hoffman. Sarcoidosis manifesting as isolated nasal crusting and dysphonia. Otolaryngology Case Reports, Volume 26, 2023, 100508, ISSN 2468-5488, https://doi.org/10.1016/j.xocr.2023.100508, https://www.sciencedirect.com/science/article/pii/S2468548823000036.