Patient: 17-year-old girl living in California
Symptoms: The teenager presented to the emergency department after experiencing vomiting symptoms for about a day. For the past 3 months, she also suffered from regular shortness of breath with chest tightness.
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Doctors learned that the patient was also experiencing unusual thirst, excessive urination, unexplained weight loss, and fatigue. Based on these symptoms and hyperglycemia, doctors determined that the patient likely had type 1 diabetes and admitted him to a pediatric unit for further testing.
They started her on modest doses of insulin, but despite this, she frequently experienced hypoglycemia in the morning. And despite her low fluid intake, she still urinates a lot, a hallmark symptom of uncontrolled diabetes.
The patient’s mother also told doctors that the teenager had a tendency to “sun easily” in general, but that he happened to not have a sunburn at the time of his admission.
“Given her atypical course and persistent findings,” doctors wrote in the case report, they began considering additional diagnoses that might explain these symptoms.
Diagnosis: We considered whether the symptoms were indicative of Addison’s disease, which affects the adrenal glands above the kidneys. These glands normally produce hormones that help control the body’s stress response, blood pressure, and water and salt balance, but in people with Addison’s disease, they don’t produce enough of the hormones. This is most often caused by an autoimmune reaction in which the immune system attacks the adrenal glands and impairs their function.
Tests revealed that the patient had antibodies against the adrenal glands, suggesting that such an autoimmune reaction was developing. Additionally, she had high levels of adrenocorticotropic hormone (ACTH). ACTH is a signal sent by the brain to increase adrenal gland activity. Renin is produced by the kidneys when the body’s water and salt balance is disrupted.
At the same time, the brain releases more hormones that promote skin pigmentation, which can cause the skin to become “tanned.”
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These findings confirmed the diagnosis of both type 1 diabetes and Addison’s disease. Together, these diseases represent another relatively rare condition called autoimmune polyendocrine syndrome type 2 (APS-2). The syndrome affects various hormone-producing glands and is estimated to affect approximately 1.5 to 2 in 100,000 people.
Treatment: Patient received both short-acting and long-acting insulin to manage diabetes. To treat Addison’s disease, she was given a number of steroids to increase the levels of two important hormones: cortisol and aldosterone. These hormones are normally produced by the adrenal glands and work together to manage blood pressure, fluid balance, and stress responses. “This amount is [of steroids] So far, her symptoms have been well managed,” the doctors wrote.
Within 2 months of diagnosis, her weight began to increase, her blood sugar levels improved, and her ACTH and renin levels normalized.
“Symptomatically, she has improved,” the doctors wrote. “However, based on the diagnosis results, [of] Although she has two autoimmune diseases that require lifelong treatment, she has benefited from emotional support from a counselor to cope with her new diagnosis and psychosocial stressors at home. ”
What’s unique about this case: APS-2 is a relatively rare diagnosis characterized by the presentation of Addison’s disease in conjunction with type 1 diabetes, autoimmune thyroid disease, or both.
The exact cause of this syndrome is not completely understood, but it is thought to be associated with a number of genetic mutations as well as environmental risk factors. Symptoms vary from patient to patient, as different organs may be affected in each case. The authors of the case report noted that due to these changes in disease symptoms, patients often face delays in diagnosis.
“This case is unique in that both diseases were diagnosed at the same time as onset,” they noted. “Very few cases have reported a concurrent diagnosis of T1DM. [type 1 diabetes mellitus] When I was first diagnosed, I was diagnosed with Addison’s disease. ”
The case highlights the importance of screening patients with type 1 diabetes for additional autoimmune diseases, the doctors concluded. “Unexplained persistent electrolyte abnormalities” could raise the flag for Addison’s disease screening, which could include looking for adrenal antibodies, as in this case, the researchers said.
“Early detection may help prevent adrenal crisis and reduce morbidity and mortality associated with Addison’s disease,” the researchers wrote.
For more interesting medical cases, check out our Diagnostic Dilemma archives.
This article is for informational purposes only and does not provide medical advice.
Towslee, E., Macdonald, A., and Shoar, Z. (2024). Patients diagnosed with new-onset type 1 diabetes and Addison’s disease at the initial visit. Endocrinology, Diabetes and Metabolism Case Reports, 2024(2). https://doi.org/10.1530/edm-23-0106
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