Introduction Pseudohypoparathyroidism (PHP) encompasses five metabolic disorders characterized by target organ PTH resistance. The focus of this paper is PHP Type 1B (PHP1B), a disease that typically presents in children with symptomatic hypocalcemia. Only 15-20% of cases are genetic, making our case of Familial PHP1B even rarer. Case Presentation A 23-year-old African-American female with hypothyroidism and PHP1B diagnosed in 2005 presented to the emergency department with symptomatic hypocalcemia. As a child, she was evaluated for progressive femur, tibia, radius, and ulna bowing in the setting of short stature without phenotypic features of Albright's Hereditary Osteodystrophy. Her biochemical profile was consistent with pseudohypoparathyroidism and imaging showed costochondral junction enlargement. Genetic testing revealed STX mutation confirming PHP1B diagnosis. Extensive studies of her family revealed several affected members, including one of her two children.Patient has history of multiple hospitalizations for symptomatic hypocalcemia. During this admission, her laboratories demonstrated: calcium 4.4 mg/dL (8.6-10.3 mg/dL), phosphorus 7.3 mg/dL (2.5-4.5 mg/dL), PTH 574 pg/mL (16-65 pg/mL), 1,25-dihyroxyvitamin D < 8 ng/mL (18-78 ng/mL), and 25-hydroxyvitamin D 7.6 ng/mL (30-100 ng/mL).She has an extensive history of non-compliance with medications and endocrinology appointments. During the last visit, she complained of ostealgia, particularly in long bones. While discussing the importance of maintaining adequate calcium levels, the patient expressed feeling overwhelmed by her regimen (calcitriol 1 mcg QAM and 0.5 mcg QHS, calcium carbonate 1,200 mg TID). After a lengthy conversation regarding the need for long-term medical therapy, she became increasingly distraught. Conclusion When normocalcemia is achieved with high doses of calcium and calcitriol, patients with PHP1B have an average life expectancy. Given that patients are typically diagnosed in childhood, taking several medications multiple times a day can be challenging and lead to poor compliance. When this occurs, PHP1B becomes a life-altering disease with a significant decrease in quality of life.In 2018 Wierenga et al. reported that being emotionally overwhelmed by chronic disease prevents a patient from appropriately caring for themselves. Their research shows that older males with higher levels of education have better emotional regulation than young females with low educational levels. Providing patients at high risk of psychological stress with a multidisciplinary team including cognitive-behavioral therapists can improve their quality of life and compliance while decreasing the healthcare costs associated with poorly controlled chronic diseases. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
Introduction Iatrogenic Cushing syndrome (CS) is typically due to systemic corticosteroids. Less frequently, it can be caused by inhaled, ocular, intra-articular, and topical glucocorticoids. There are multiple reported cases of pediatric CS due to topical corticosteroids, this is partly due to this patient's population thinner dermis which allows for higher absorption. In adults, there are few reported cases of iatrogenic CS secondary to Clobetasol, one of the highest potency topical steroids available. We present a unique case of severe Iatrogenic CS secondary to topical Triamcinolone in a patient with no medications that could interfere with glucocorticoid metabolism. Case A 30-year-old-female with Type 2 Diabetes Mellitus and psoriatic arthritis was admitted with generalized psoriatic lesions affecting 70% of her body surface area (BSA) and non-healing open wounds affecting two thirds of her upper legs. The leg wounds had failed to improve after seven washouts and three skin grafts in the course of four months. Additionally, she reported recent weight gain and a new diagnosis of hypertension. Pertinent physical exam findings included moon facies, dorsocervical fat pad, acanthosis nigricans, and open wounds in 67% of bilateral upper legs. Subsequently, her cortisol was found to be 1.2 mg/dL (6.2-19.4 mg/dL) with an ACTH level of 1.2 pg/mL (7.2-63.3 pg/mL). ACTH stimulation test confirmed adrenal insufficiency. The only medication she was prescribed for psoriasis at the time of admission was 0.1% Triamcinolone cream. She had been applying the steroid to over 50% of her BSA, including open wounds, for the past four months. Upon admission, Triamcinolone was discontinued, and she was started on cyclosporine and a TNF inhibitor for psoriasis management as well as oral hydrocortisone for adrenal insufficiency. Three months later, during her last office visit, her facial rounding and plethora, dorsocervical fat pad and hypertension had moderately improved. Discussion To the best of our knowledge, this is the first reported case of adult iatrogenic CS secondary to topical Triamcinolone in the absence of any drug-drug interaction. Purser et al reported Triamcinolone induced CS in an HIV patient taking Ritonavir, a cytochrome P450 inhibitor that increases the amount of active steroid. Our patient had increased absorption due to the application of the cream to a large BSA and to open wounds. The two main factors that determine the development of iatrogenic CS are the potency of the glucocorticoids and the duration of exposure. The pathophysiology of wound healing in CS has been well studied and reported, therefore, the objective of this report is to understand how a relatively benign topical medication can have detrimental systemic effects. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.
Background Corticosteroids can induce hypertension through a variety of mechanisms such as vasoconstriction, increased hepatic production of angiotensinogen, sympathetic activity, and possible direct cardiotoxic effect. Posterior reversible leukoencephalopathy syndrome (PRES), a syndrome with unclear pathogenesis, can be the consequence of blood pressure elevation in these patients, which can present with headaches, altered consciousness, visual disturbances, or seizures. CASE REPORTA 57-year-old African American woman with a history of hypertension on Lisinopril 40mg as an outpatient, who was brought to the emergency department (ED) by family members due to altered mental status (AMS). Daughter reports that a day prior to the admission the patient has complained of feeling unwell, with mild shortness of breath and anxiety. On admission, she was found to be on sinus tachycardia with heart rate between 100-140bpm and severely hypertensive at 203/107mmHg. Toxicology screen was positive for cannabinoids, which the patient admitted to vapping the night prior. At the ED, Stroke alert was called due to altered mentation and weakness, however CT brain showed no large infarct or hemorrhage. MRI was obtained and showed patchy t2/flair hyperintense signal abnormality predominantly of the subcortical white matter in the bilateral frontoparietal lobes, most conspicuous at the vertex. Findings could reflect acute hypertensive encephalopathy (PRES). The patient had a Cushingoid appearance, with truncal obesity, moon face and reported easy bruising. Given the clinical findings and severe hypertension, serum cortisol was obtained at night and was found to be elevated at 34. 08UG/DL (3.44 - 16.76 ug/dl). ACTH was mildly low at 5 pg/mL (6-50pg/mL). 24-hour urine cortisol was then ordered and also found to be elevated at 818mcg/24h (4-50mcg/24h). Blood pressure was controlled with antihypertensive medications (nifedipine 60mg and carvedilol 12.5mg), AMS resolved and patient was discharged home with follow up with endocrinology for further Cushing's workup. Conclusion Cushing Syndrome is a known cause of secondary hypertension that should not be neglected. Patients that present with severe or resistant hypertension regardless of age should be worked up for possible secondary cases. Patients with Cushing syndrome are at elevated cardiovascular risk and the sooner the diagnosis is made, the better, so they can receive appropriate treatment. Hypertensive crisis can present as PRES syndrome and patients with clinical suspicion for Cushing should be worked up for the condition. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
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