As reported in Cushing’s Disease News; a woman diagnosed with Cushing’s Disease via hair cortisol analysis is being used as a case study for why hair is a good tool for retrospective diagnosis. Cushing’s disease can traditionally only be diagnosed by elevated levels of cortisol, the stress hormone triggered in patients. However, once in a while, patients may experience a relief from the disease due to pituitary apoplexy. This damages the pituitary gland which creates cortisol, lowering the abnormally high concentration of the hormone. However, this makes retrospective diagnosis of Cushing’s difficult, since the patient’s cortisol levels are then back to normal, which would otherwise be key to confirming a diagnosis. This study identifies hair analysis as a method to get certain diagnoses post-disease, with this patient as the first to receive a confirmed diagnosis in this way.
Cushing’s Disease
Cushing’s disease is a rare disease caused by a tumor or excess growth in the pituitary gland. This causes the pituitary gland to produce too much of the hormone cortisol. This causes weight change, particularly in the face and gut, fatigue, anxiety, increased bruising, muscle and bone weakness, mood changes, high blood pressure, and a weak immune system.
Pituitary Apoplexy
Pituitary apoplexy happens when the pituitary gland isn’t getting its normal blood flow, often due to a blockage, such as a hemorrhage. This causes an array of symptoms including headaches, vision problems, and hypopituitarism. However, for patients with Cushing’s disease, blocking the pituitary gland can stop the gland from producing excess hormones.
The Case Study
The patient in this case study was a 31 year old female who was part of the rare group of patients who experienced Cushing’s symptoms resolve after a pituitary apoplexy. She was admitted to the hospital with a very intense and sudden headache, as well as nausea, vomiting, loss of appetite, and lightheadedness.
However, many of those experiencing Cushing’s-like symptoms have never received an actual diagnosis with the disease. For this reason, when they experienced a relief in symptoms due to a pituitary apoplexy, it has been difficult to determine then if they had previously had the disease.
The doctors suspected the patient had Cushing’s due to their appearance, including the characteristic obesity around the core, acne, facial hirsutism, and a ‘moon face’. Her medical history within the last three years included type 2 diabetes, high blood pressure, hypothyroidism, and polycystic ovary syndrome.
However, in the study they wrote,
“Due to spontaneous remission of active hormone production [cortisol], it is not possible to biochemically confirm this diagnosis [of Cushing’s disease] in retrospect.”
Hair Cortisol Analysis
However, the doctors decided to utilize a new technology- hair cortisol analysis. This method dates a patient’s hormonal levels by their hair length. They assess the cortisol levels in the hair by centimeter, estimating one centimeter of hair length to be about a month. The patients hair was 22 centimeters so they dug into the past 22 months, and found elevated levels of cortisol, at about 10x the level of typical hair.
In the study, they wrote,
“By using hair cortisol analysis, we were able to confirm the clinical suspicion of Cushing’s disease, thereby enabling us to adequately anticipate remission of Cushing’s disease.”
By identifying this disease, though it was in remission, they were able to prepare for the return of the illness and how it might interact with her other treatments. Researchers wrote,
“By proving spontaneous remission of Cushing’s disease using hair cortisol analysis, it is possible to adequately treat patients with initial high dose of steroid for prevention of steroid withdrawal.”
They explain that this was the first time this tool has been used to retrospectively diagnose patients with Cushing’s, but they recommend it get added to the toolkit. They point out that it is a particularly valuable tool for complicated cases like this one where the hormones had fluctuated or been impacted by another disease.
