Case Presentation: A 15 year-old female with developmental delay presents with intermittent abdominal pain, decreased appetite, and vaginal discharge. Parents disclose a 30 lbs weight loss over 2 years, along with vaginal discharge that was evaluated by self-swab testing and deemed a “normal variant” from menses. When she presented to her PCP’s office, she was referred to the ER for failure to thrive (FTT) and significant anemia.
Admission exam was notable for normal BMI, BP 136/86, perirectal ulcerations, and yellow-brown vaginal discharge. Significant labs included hemoglobin 6.2, MCV 78, WBC 3.5, & ALC 210. Given elevated pressures on admission and prior reading of 159/107 in 2016, mother was asked about these and confirmed higher pressures for some time. With her FTT, anemia, low ALC, and perineal ulcerations, sexual abuse and HIV were suspected. Additional testing confirmed AIDS with a CD4 count of 5. Genital ulcerations were HSV-2 positive. With this data, much of her presentation was explained by her undiagnosed AIDS. However, her hypertension was more puzzling. Laboratory work-up included normal thyroid function, creatinine, serum metanephrines, aldosterone, and renin. UA was negative for protein. An echocardiogram and renal ultrasound were unremarkable. Evaluation of the renal vasculature was also normal. Nephrology was consulted. With her negative evaluation, the etiology of her hypertension was ultimately felt to be from HIV-associated nephropathy (HIVAN) rather than essential hypertension. Therapies including ART and ACE-inhibition were initiated.
Discussion: FTT and opportunistic infections are common presentations of advanced HIV infection/AIDS. However, cardiovascular and renal effects are less commonly recognized complications. Patients with AIDS are at risk for HIVAN, which manifests variably as proteinuria, renal insufficiency, hypertension, hematuria, and edema. Of note, HIVAN is strongly associated with African descent (>95% of cases in some studies). Renal dysfunction and proteinuria are milder in pediatric patients; median estimated GFRs of adult patients in two series were 10 and 20 mL/min/1.73 m2, while in a review of 71 pediatric cases, only 2 patients had eGFRs less than 15 mL/min/1.73 m2 and just 20 patients (40%) manifested renal impairment. In cases of ESRD, definitive diagnosis is sought with kidney biopsy, which reveals the collapsing form of focal segmental glomerulosclerosis. Treatment entails ART and ACE-inhibition.
Conclusions: This patient’s ongoing symptoms had been undiagnosed/untreated for the past few years due to inconsistent medical care. Vaginal discharge, especially in the setting of developmental delay, warrants a formal pelvic exam given the higher risk for abuse. Oftentimes, the genital exam is deferred or a self-swab is performed for patient comfort and age. However, this case illustrates the importance of performing a thorough exam. Another interesting aspect was her hypertension. In addition to opportunistic infection evaluation in HIV/AIDS, one should also remember the potential cardiovascular effects. Having a high index of suspicion is paramount when a pediatric patient presents with hypertension in the setting of undiagnosed HIV, as solely treating the hypertension can lead to renal insufficiency despite antihypertensive medication. With early identification of HIV, antiretroviral therapy, along with ACE inhibition, can prevent ESRD.