During puberty, I had my period every other week. I would often wake up in the middle of the night, and feel nauseous in the morning. My then gynecologist told me that I had to admit my condition of being a woman. Her statement and the perspective of having to live this way terrified me. She was removed from my care, and her replacement put me on a contraceptive pill. The alternative, a hysterectomy, was obviously not practicable for a teenager. My cycle behaved as dictated by the influx of chemicals, and everybody applauded the miracle. Little did I know the worst was yet to come.
In my early 30ies, I developed irregular heartbeat, and was found to have mildly elevated blood pressure. My cardiologist prescribed a minimal dose of a beta blocker (Carvedilol, 3.125 mg/day). The irregular heartbeat disappeared, my blood pressure stabilized, and everybody applauded this new miracle. Little did I know I actually had primary aldosteronism (PA) and would have to wait another 2 ½ decades before being diagnosed.
In my early 40ies, a dozen adenomas were incidentally found on my liver. Physicians seemed clueless and told me to repeat the imaging in 3 months. This woefully inadequate recommendation left me in sheer panic. As a result, I experienced hypertensive crises which landed me in the ER with a blood pressure of 200/120. After spending the night in the ER, my blood pressure would stabilize and I would be sent home, only to go through it all over again a few days later. My cardiologist put me on a cocktail of antihypertensives which finally kept me away from the ER. I was eventually able to find a competent hepatologist who correctly identified that the liver adenomas were caused by the contraceptive pill I had been on for decades. I was ordered to discontinue the drug immediately and repeat imaging in 3 months. By then, the smallest lesions had disappeared, the biggest ones had shrunk, and my cycle did not gear back into over-drive. The trauma caused by the initially inadequate care eventually subsided, my blood pressure stabilized with a calcium channel blocker (Amlodipine 5 mg bid) and the same homeopathic dose of Carvedilol I had been taking for a decade already.
On top of the liver adenomas, it was brought to the attention of my cardiologist that a similar lesion had been seen on my right adrenal gland. I remember her telling me that it might explain my hypertensive crises, and that it required further testing. Results came back negative. Little did I know the test was actually an aldosterone to renin ratio (ARR) that would be positive a decade later.
In my mid-40ies, my potassium and sodium started trending in the wrong direction. Nothing alarming, but numbers were departing further and further away from what had always been the norm for me (i.e., potassium in upper end of range, and sodium below mid-range). By then, I had moved and was no longer under the care of my cardiologist. As a scientist, I appreciate the value of data. I was utterly shocked to see that my new physicians did not share the same appreciation. Instead, they would tell me that variations between upper and lower range are noise, and that only out-of-range data is worth considering. Had attention been paid to what were actual signs of PA, the next 15 years of my life would’ve been vastly different.
Then came the delight of menopause and its ominous signs that my body was undergoing profound changes. Abundant, irregular and painful menses to the point of depleting my iron stores. All of a sudden, my weight started to fluctuate for no reason. I would find myself more and more sluggish. Exercising would become challenging. Memory started to fail me at times, and the feeling that “things were off” became obvious. Like most physicians faced with diffuse complaints, my primary care physician (PCP) invoked the “D word.” Depression. I was finishing a doctorate degree, my research had business applications, my outlook on life was excellent. I was NOT depressed, I was progressing on the severity spectrum of PA.
Then came the nail in the coffin: Pfizer discontinued the manufacturing of the calcium channel blocker I had been taking for 2 decades. None of the replacements I tried seemed to work, and they were all triggering side effects. Not all generics are created equal!
Around Christmas that year, I gained 15 pounds in 10 days. I have since understood that it had actually been caused by high-sodium meals I had consumed at various holiday events. I was nearing the end of my doctorate degree, filing a patent application and negotiating a joint venture to further develop the business applications of my research. What was once an occasional memory lapse, became full blown cognitive impairment. I would attend meetings and not be able to keep up with interactions. I just couldn’t track who was saying what. I would pray to make it to the end of the meetings without having to intervene since I was incapable of providing any meaningful input. I would go home at the end of the day and research “early onset Alzheimer” and “dementia.” What I would read didn’t seem to match what I was experiencing. Intellectual capabilities had defined me. They were vanishing in front my eyes together with my career. To this day, the painful devastation it caused is indescribable.
The calcium channel blocker eventually became less and less effective, and the past repeated itself: my blood pressure became erratic again, and I ended up again in the ER with stubbornly high diastolic blood pressure, which attending physicians discarded while recommending natural remedies if I couldn’t tolerate antihypertensives.
I pushed through the defense of my doctorate degree, and my life collapsed. I looked inflated, like the female version of the Pillsbury dough guy. I wasn’t present to anybody anymore, including myself. I could no longer exercise without being in excruciating pain. Sometimes, I couldn’t even follow the instructions of my personal trainer – as if my brain was missing connectors and was no longer in sync with my body. It lasted for months, and I eventually had to abandon the business applications of my research. My social and my personal life were in disarray. I feared becoming homeless. The same “D word” was invoked by the same PCP. Even then, I was NOT depressed. I was desperately trying to get my life back on track, but couldn’t. Not for mental reasons, for physical ones.
Since managing my health was over my PCP’s head, he referred me to an urgent assessment clinic where an internist investigated causes of secondary hypertension. Bingo! At last, I received the 25-year-overdue positive ARR. It was summer, and my PCP was on vacation. His replacement, a brilliant physician, helped me figure out the results. He drew a table with rows and columns to picture the impact on test results of each of the antihypertensives I had tried over the previous weeks. He kept me on non-interfering drugs for the rest of the summer, and re-ordered the test, which came back positive again.
I then started studying primary aldosteronism as if I had to take a medical board exam. I knew my life depended on it since, until then, the care I had received had been inappropriate. I joined an online support group, and learned about the absolute necessity for patients with PA to reduce their sodium intake. To this day, not a single physician has ever recommended that to me. It made my blood pressure manageable again, and literally cleared my head.
I live in a medical desert where adrenal venous sampling is performed at best 5 times a year, and the wait time for the procedure averages a year. Aware of the low success rate of the test when performed outside of centers of excellence, I didn’t want to take the risk of receiving inconclusive results and having to redo the test multiple times as is unfortunately common for patients with PA. Thanks to the online support group, I learned about a clinical trial conducted at the US National Institutes of Health that provided full PA workup and adrenalectomy to qualifying candidates. The perspective of contributing my decrepit self to science in exchange for high quality care helped me regain a sliver of decency. I applied, and was accepted. Shortly thereafter, I underwent complete workup and was diagnosed with bilateral disease.
Like all patients with bilateral hyperplasia, my only treatment option is medical, and I had the distinct privilege to choose between what for me were two evils: Spironolactone and Eplerenone. The former is older than me (I’m 58), is indicated for countless conditions other than PA, and carries a black box warning. The latter was never approved to treat PA, and is prescribed off-label.
After “throwing mud at the wall and seeing what sticks” (i.e., titration), it was obvious that at the dose needed to manage my blood pressure, these drugs were aggravating my cognitive impairment. While on Eplerenone, one day, I took my car out of the driveway and by the time I reached the street, I could no longer remember how to get to my grocery store. I could not tell whether I had to turn left or right to reach the store I had been to every single week for the past 10 years. I then started developing metabolic acidosis and irregular heartbeat. As if that wasn’t enough, although menopaused, I started bleeding again. That opened a new can of worms and the investigation of possible uterine abnormalities. Hysteroscopy invariably indicated proliferative endometrium. Needless to say, the drug was discontinued, and the next hysteroscopy was invariably normal again. Subsequent retrials caused the same unwanted consequences.
My only option is to severely restrict my sodium intake to a maximum of 800 mg/day, which I combine with my long-time friends Amlodipine and Carvedilol. Out of curiosity, I ran a clinical trial of one. I lowered my sodium intake below 800 mg per day. At that level, my blood pressure was quasi normal without any medication, but it provoked the same vaginal bleeding Eplerenone had caused me. Quod erat demonstrandum. Unsurprisingly, I take half the dose of Amlodipine I used to take before restricting my sodium intake, and have only slightly increased the dose of Carvedilol. My blood pressure is well controlled, and as long as I ingest 5,000 mg of potassium per day through food, my potassium level remains above 4. If I don’t, I become hypokalemic within 36 hours.
It has been 5 years since diagnosis.
The impact of PA on my brain is obvious: I cannot remember anything – short, medium and long-term. I cannot handle multiple tasks concurrently; my brain can no longer process them. Luckily, as long as I keep my sodium intake low, my reasoning capabilities remain intact. I can no longer work full-time. Home-based consulting is all I can handle.
My kidneys are starting to crumble under the constant assault of excess aldosterone. I now have stage 1 CKD. Who knows when I’ll reach the more advanced stages? I am constantly producing kidney stones. Recently, one of them ended up impacted in my right kidney. I had to undergo emergency surgery and developed sepsis afterwards. On top of restricting my sodium intake, I now have to restrict my oxalate intake.
I have developed Fuch’s dystrophy, an eye disease caused by a dysfunction of the sodium-potassium ATPase pump. An obvious collateral damage of excess aldosterone, and unfortunately, another comorbidity never mentioned in the context of PA. I’m stage 1. Hazy and blurry vision still improves in the morning. I don’t know when I’ll reach stage 2 and won’t be able to see anything clearly anymore.
My muscles are wasting away, and I have fast-progressing osteoporosis. I’m in constant pain, and fear to see the day when I’ll start experiencing fractures. My Vitamin D levels are constantly low, my parathyroid hormone is on the rise, and I have developed a nodule on my thyroid.
My digestive system is impaired. My once stellar liver functions are now declining. I’ve developed intolerance to fat and carbohydrates. There is no sign of liver fibrosis yet, but I’m expecting this to happen next. I have developed acid reflux and experience hoarseness as a result.
I’ve suddenly developed allergies. Among others, to sulphite, a substance found in some foods and in drugs such as Bactrim and hydrochlorothiazide. Although I’m not clumsy, I constantly bruise. For no apparent reason, I experience bouts of itching around my face and neck, and bouts of tingling in my extremities. My eyes and muscles regularly go into twitching spams. Luckily, these are not noticeable by others.
Insomnia is another challenge. Not so much because of nocturia (one of the very few “official” symptoms of PA), but partly because of body aches, and mostly because of the circadian rhythm of aldosterone. I get up every morning as if I had not slept at all, and by mid-day, I get a miraculous break and feel more or less normal for a few hours before the same cycle starts over again. My platelets and LDL level have bottomed down. Unsurprisingly, very low LDL is associated with a risk of hemorrhagic stroke. Who knows what else has been turned upside down by excess aldosterone that I haven’t noticed yet? My heart is miraculously holding on for now, but that too will be short-lived sooner or later.
Interactions with the healthcare system remain difficult. If I need an IV, I have to avoid being flooded with regular saline. I have to study every prescription to ensure it doesn’t contain excessive sodium or causes hypertension. If I’m not asked to spell out primary aldosteronism, I’m told I am a “complex case” while, in reality, I’m affected by a condition for which medical treatment is quite limited.
I’m eagerly awaiting much-needed new drugs and procedures to become available in the coming years, and I’m hopeful interventions will eventually be put in place to improve standards of care for patients with PA.