Myth: UFC’s are the Gold Standard for Cushing’s testing

Posted on December 17, 2014 by MaryO

Myth: UFC’s are the Gold Standard for Cushing’s testing

myth-busted

Fact: UFC stands for Urinary Free Cortisol. In layman’s terms this test assesses cortisol by collecting urine for 24 hours. It was once thought that this was the gold standard and the end all and be all in terms of assessing Cushing’s in a patient. What we now know is that this is not necessarily true. Though this test is helpful in assessing for Cushing’s in some patients, not all patients have positive labs with this test, even if they DO, in fact, have Cushing’s.

There are various theories as to why. Cyclical Cushing’s patients also tend to report having a lower prevalence of positive UFCs in their test batteries.

Cushing’s experts understand that the most effective way to test for Cushing’s, especially in cases where it is suspected that the patient is cycling, is to administer multiple test measures across an extended period of time.

The following links may be helpful:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978784/

Click to access LimitationsSC_UFC_dex_mildCS.pdf

http://survivethejourney.blogspot.com/2008/08/when-gold-standard-becomes-tarnished.html

Filed under: Cushing's, Myths and Facts | Tagged: , , , , | Leave a comment »

Genetics of adrenal diseases in 2014: Genetics improves understanding of adrenocortical tumours

Posted on December 17, 2014 by MaryO

2014 has seen advances in our understanding of benign and malignant tumours of the adrenal cortex, particularly in Cushing syndrome. Modern genetics has generated a flurry of data. The challenge is to give sense to them; however, the difficulties of collecting the clinical data must not be underestimated.

Download this information at http://www.nature.com/nrendo/journal/vaop/ncurrent/full/nrendo.2014.215.html

  • References
  1. Beuschlein, F. et al. Constitutive activation of PKA catalytic subunit in adrenal Cushing’s syndrome. N. Engl. J. Med. 370, 1019–1028 (2014).
  2. Goh, G. et al. Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nat. Genet. 46, 613–617 (2014).
  3. Sato, Y. et al. Recurrent somatic mutations underlie corticotropin-independent Cushing’s syndrome. Science 344, 917–920 (2014).
  4. Cao, Y. et al. Activating hotspot L205R mutation in PRKACA and adrenal Cushing’s syndrome. Science 344, 913–917 (2014).
  5. Assié, G. et al. ARMC5 mutations in macronodular adrenal hyperplasia with Cushing’s syndrome. N. Engl. J. Med. 369, 2105–2114 (2013).
  6. Assié, G. et al. Integrated genomic characterization of adrenocortical carcinoma. Nat. Genet. 46, 607–612 (2014).
  7. Beuschlein, F. et al. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat. Genet. 45, 440–444 (2013).
  8. Scholl, U. I. et al. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat. Genet. 45,1050–1054 (2013).
  9. Azizan, E. A. et al. Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nat. Genet. 45, 1055–1060 (2013).
  10. Fernandes-Rosa, F. L. et al. Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma. Hypertension 64, 354–361 (2014).

Filed under: adrenal, Cushing's, pituitary | Tagged: , , , , , , | Leave a comment »

New Jersey Ambulances Carrying Solu-Cortef

Posted on December 17, 2014 by MaryO

solu-cortefThe New Jersey Department of Health passed a waiver in October of last year that allows ambulances to carry Solu- Cortef, for the purposes of treating an adrenal crisis. As a result, New Jersey ambulances can be better prepared to treat adrenal insufficiency.

This news was brought to NADF by Karen Fountain of the CARES Foundation, who has been helping push state health directors to accept protocols to help treat adrenal insufficient patients during an emergency.

Adrenal insufficient people in New Jersey should contact their local EMS to make them aware of the waiver, and encourage them to carry Solu-Cortef in their ambulances.

The hope is that other states, and eventually the entire country and beyond, will start having their ambulances carry the needed medication to treat adrenal crisis.

http://www.nadf.us

Filed under: adrenal, adrenal crisis, Cushing's | Tagged: , , | Leave a comment »

%d bloggers like this: