Unusual Case of Thrombotic Microangiopathy (TMA) in the Setting of Severe Hypertension
- Genetic Diseases: Glomerulopathies - II
November 04, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
- Solomon, Melinda K., Boston Medical Center, Boston, Massachusetts, United States
- Dommu, Aaron M., Nephrology Associates, PC, Trumbull, Connecticut, United States
- Ghai, Sandeep, Boston Medical Center, Boston, Massachusetts, United States
- Francis, Jean M., Boston Medical Center, Boston, Massachusetts, United States
22-year-old female with a past medical history of hypertension since age 3, left ventricular hypertrophy since childhood, and hypokalemia and metabolic alkalosis who was referred for severe active on chronic thrombotic microangiopathy in the setting of difficult to control blood pressure. Her blood pressure had been previously well controlled but developed refractory hypertension starting in 12/2020. She had been on Nifedipine and Losartan but developed bilateral lower extremity edema in 2021 and was switched to Verapamil and Enalapril. She was continued on Amiloride and due to uncontrolled blood pressure, was switched from Hydralazine to Labetalol with better blood pressure control. Despite the combination of enalapril and amiloride, she remained with low levels of potassium.
Previous work-up for secondary hypertension had been negative and patient had no family history of HTN. Renal biopsy in 2021 showed chronic-active thrombotic microangiopathy, largely affecting blood vessels, focal segmental and diffuse global sclerosing glomerulopathy, severe tubular atrophy and interstitial fibrosis, severe and diffuse chronic changes, and advanced IFTA and global glomerulosclerosis. TMA secondary to TTP, anti-cardiolipin syndrome, scleroderma, drugs, and infection were ruled out. Patient had a positive ANA but negative ENA and no clinical or laboratory signs of lupus. Genetic testing for complement regulatory proteins that are associated aHUS were unrevealing.
At time of referral, we performed genetic testing and patient was found to have compound heterozygous mutations in HSD11B2 gene, which results in apparent mineralocorticoid excess (AME) an autosomal recessive disorder. Patient progressed to end stage renal disease. She received a deceased donor kidney transplant after a short course of peritoneal dialysis. Post-transplant course was complicated with prolonged hypotension secondary to chronic adrenal suppression, and responded well to Florinef. This case highlights the heterogeneity of TMA presentation and inform providers on management of hypotension after kidney transplantation in patients with AME.