Endocrine Abstracts

JOINT1652

Background: Primary adrenal insufficiency (AI) is a rare and potentially life-threatening condition. The diagnosis can often be delayed for months. We describe a young man with a delayed diagnosis whose condition was initially suspected to be sarcoidosis. So far only four cases of elevated ACE levels as a primary finding in AI have been reported.

Case Report: A 23-year-old man was hospitalized urgently with severe salmonella enteritis in autumn 2022, presenting with total colitis, high fever, bloody stools, abdominal tenderness, and severe hyponatremia (124 mmol/l, normal range 137-145). He was discharged in much better condition and returned to full-time work. Two months after discharge, he experienced fatigue. There were no more loose stools, and he was afebrile, but became weaker and weaker with periods of dizziness, acid reflux, epigastric pain, nausea, and some vomiting. He had a CT of the abdomen/pelvis and an abdominal ultrasound, both with normal findings. Gastroscopy revealed esophagitis grade A, and duodenal biopsies were negative for coeliac disease. After 10 months of declining general health and a weight loss of 30 kg, he was admitted to the Diagnostic Unit at our hospital due to concerns about malignant liver disease indicated by abnormal liver and bile values, ASAT 56 (15-45) and ALP 151 U/l (35-105). Blood pressure was 113/67 mmHg, pulse rate 115, sodium 135 mmol/l and potassium 4.6 mmol/l (normal range 3.6-5). The first notable finding was a hilar lymph node observed on a thoracal CT scan and an elevated ACE level of 111 U/l (18-65), which raised suspicion of sarcoidosis, and referral for bronchoscopy. The patient had no dyspnea or cough. Ferritin was elevated at 601 mg/l (30-400). Expanded blood tests confirmed primary AI with low cortisol levels at 15 nmol/l (133-537) and high ACTH levels at 362 pmol/l (1.5-14). Additional symptoms such as salt cravings, increased skin pigmentation, and muscle pain appeared. Treatment with mineralocorticoids and glucocorticoids was initiated. He improved quickly and gained 19 kg in less than four months. The bronchoscopy was cancelled, and after 3 months, the lymph node had diminished, and the ACE, liver and ferritin levels had normalized.

Conclusions: This is the fifth published case with debut of AI with high ACE without having sarcoidosis. The patient avoided an unnecessary pulmonary biopsy. Low cortisol levels in untreated AI can lead to increased inflammatory markers as ACE and ferritin.