Patient with Addison’s disease and CRH dysregulation: Cholecystokinin

January 14, 2024by Dr. S. F. Czar0

 Case study:

  • Name: Mark Anderson
  • Age: 38 years
  • Gender: Male
  • Occupation: IT Consultant
  • Chief Complaint: Persistent fatigue, dizziness, and weight loss over the past six months.
Presenting Symptoms:
  • Mark reported ongoing and severe fatigue that left him feeling exhausted even after a full night’s sleep.
  • He had experienced unintentional weight loss of approximately 20 pounds over the past six months despite maintaining a regular diet.
  • Mark complained of frequent episodes of dizziness, especially when standing up from a seated or lying position.
  • He had developed a craving for salty foods, particularly chips and pretzels, and had noticed increased pigmentation on his lips and in his mouth.
Medical History:
  • Mark had no significant medical history before the onset of his symptoms.
  • He denied any recent illnesses, surgeries, or medication use.
Physical Examination:
  • Physical examination revealed Mark to be pale, fatigued, and with mild dehydration.
  • His blood pressure was notably low, with readings averaging around 85/55 mm Hg.
  • Hyperpigmentation was observed on his lips and the mucous membranes inside his mouth.
  • Laboratory tests revealed hyponatremia (low sodium levels) and hyperkalemia (high potassium levels) in his bloodwork.
  • A morning cortisol level was significantly below the reference range.
Diagnostic Workup:
  • Given Mark’s clinical presentation and laboratory findings, further investigations were carried out to determine the cause of his adrenal insufficiency.
  • An ACTH stimulation test was performed to assess the adrenal glands’ response to synthetic ACTH. Mark’s cortisol response was suboptimal, confirming adrenal insufficiency.
  • Imaging studies, including an abdominal computed tomography (CT) scan, were conducted to evaluate the adrenal glands for structural abnormalities. No significant findings were observed.
  • Based on the clinical presentation, laboratory results, and ACTH stimulation test, Mark was diagnosed with primary adrenal insufficiency, also known as Addison’s disease, due to autoimmune adrenalitis.
  • Mark was started on hydrocortisone replacement therapy to replace the deficient cortisol. He was instructed on proper medication management and dosing.
  • To address the mineralocorticoid deficiency associated with primary adrenal insufficiency, Mark was also prescribed fludrocortisone.
  • His healthcare provider emphasized the importance of regular monitoring of blood pressure and electrolyte levels and adjusting medication dosages during periods of stress or illness.
  • Over several weeks on cortisol and fludrocortisone replacement therapy, Mark’s energy levels gradually improved, and his fatigue diminished.
  • He began to regain some of the lost weight and reported feeling less dizzy and more alert.
  • Mark continued to follow up with his endocrinologist for ongoing monitoring and adjustment of his hormone replacement therapy to maintain optimal cortisol and mineralocorticoid levels.

This case study illustrates the clinical presentation, diagnosis, and treatment of a patient with primary adrenal insufficiency (Addison’s disease) due to autoimmune adrenalitis, accompanied by dysregulation of corticotropin-releasing hormone (CRH). Early diagnosis and appropriate hormone replacement therapy are crucial for managing Addison’s disease and improving patients’ quality of life. Monitoring and education about medication management are essential components of long-term care for individuals with this condition.

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