Unraveling Angel’s Medical Mystery: The Quest for a Diagnosis

Introduction

In the realm of medical enigmas, some cases stand out, not just for their complexity, but for the profound impact they have on a patient’s life. This is the story of Angel, a 23-year-old nursing student whose life has been punctuated by recurrent episodes of excruciating muscle pain and alarming changes in urine color. Her journey, marked by repeated hospital visits and a frustrating lack of definitive answers, exemplifies the challenges of diagnosing rare and elusive conditions. Originally featured in The New York Times, Angel’s case was presented to a wider audience, inviting medical professionals and keen observers to contribute their insights in a quest for an accurate Angel Diagnosis. This exploration into Angel’s medical history aims to shed light on her symptoms, the diagnostic odyssey she has endured, and the potential pathways to unraveling this perplexing medical puzzle.

The Onset of Agony: A Hike Turned Horrific

The ordeal began on what should have been a pleasant hike. As Angel, accompanied by her best friend and their dogs, embarked on a trail to Mary Jane Falls in Las Vegas, an unexpected wave of pain surged through her thighs and calves. It wasn’t the familiar fatigue of exertion, but a searing, throbbing ache that felt as if her muscles were pushed far beyond their limits. Despite the relatively short and manageable 1.5-mile trek, her legs felt leaden, her knees stiffened, and every step sent jolts of intense pain from her toes to her hips. Simple movements, like bending her knee, became increasingly arduous. It was a chillingly familiar sensation – the prelude to another “episode,” as Angel had come to call these agonizing bursts of muscle pain that had led to numerous hospitalizations throughout her life.

“I can’t go down,” she managed to say to her friend, the realization dawning that she was once again trapped in the throes of another attack. Her friend, a steadfast companion since high school, immediately recognized the gravity of the situation. Offering support, both physical and emotional, she lightened Angel’s load by taking her backpack and providing a steadying presence.

Alt text: Angel, a young woman, smiles warmly while sitting on a beach with her dog Jules, highlighting her resilience amidst her health challenges.

Together, they painstakingly navigated the rocky terrain. The trail, though not excessively steep, presented an insurmountable obstacle for Angel. With each step, her thigh and hip muscles trembled uncontrollably, threatening to buckle under her weight. Desperate for relief, she tried walking on her tiptoes, a technique that had sometimes offered fleeting respite in the past. But on this day, even that strategy failed to alleviate the escalating pain. Rest offered no solace either. Tears welled up, fueled by the relentless pain and the bitter frustration of being rendered helpless by her own body. In a moment of desperation, she reached for her phone and called her boyfriend, another constant in her life who had witnessed and supported her through these agonizing episodes before. He knew what to do and promised to reach them as quickly as possible.

The wait for her boyfriend felt interminable. By the time he arrived, almost an hour later, Angel’s legs were virtually paralyzed by pain. She could barely stand, her muscles seemingly unresponsive. Without hesitation, he carefully lifted her onto his shoulders, preparing to carry her back down the trail. Despite his cautious steps, every movement sent waves of excruciating pain through her legs and up her back. The car, their gateway to medical help, seemed impossibly distant, a million miles away.

From Growing Pains to Alarming Episodes

Angel’s history with muscle pain stretched back to her childhood. Initially dismissed as mere “growing pains,” these episodes were a recurring and often debilitating part of her young life. However, one night when she was 14, the pain escalated to an unprecedented level. Awakened in the dead of night by excruciating leg pain, she sobbed out for her parents. While she had voiced complaints about leg pain before, this was different. The intensity was unbearable, and the nocturnal onset was a new and alarming development. It was clear to Angel and her mother that this was not a typical childhood ache. They rushed to Summerlin Hospital Medical Center, located on the outskirts of Las Vegas, seeking answers and relief.

In the week preceding this severe episode, Angel had been battling what her pediatrician suspected was an upper respiratory infection and sinusitis. She had been prescribed antihistamines and an antibiotic to combat the illness and was still taking these medications when the intense muscle pain struck. Upon arrival at the emergency room, she presented without a fever, but a significant observation was made: her urine was strikingly dark, resembling the color of tea or cola. This discoloration was a critical clue, indicating that her muscle pain was not just a symptom of overexertion but a sign of actual muscle damage. When muscle tissue breaks down, myoglobin, a protein responsible for muscle color, is released into the bloodstream. As the kidneys filter this protein, it can darken the urine, a phenomenon directly related to the extent of muscle damage.

To quantify the muscle damage, the ER doctors ordered a blood test to measure creatine kinase (CK) levels, an enzyme that leaks into the blood when muscle tissue is damaged. While a baseline level of CK is always present in the bloodstream due to normal muscle wear and repair, typically ranging between 96 and 140 units per liter, Angel’s results were alarmingly high. Her CK level soared to over 24,000 units per liter that afternoon, confirming substantial muscle breakdown.

This condition of muscle tissue breakdown is medically termed rhabdomyolysis, often shortened to “rhabdo,” derived from Greek words signifying “destruction of muscles.” Rhabdomyolysis is not always a diagnostic puzzle. It is commonly observed in cases of significant muscle trauma, such as car accidents, falls, or as a consequence of surgical procedures. In these instances, the cause of muscle injury is usually evident. Less obvious yet more prevalent triggers of rhabdo include certain medications, both prescription and illicit drugs, and excessive alcohol consumption. Strenuous exercise can also induce rhabdomyolysis, although typically in a milder form. Certain infections are also known to be causative factors.

Given Angel’s presentation, doctors at Summerlin Hospital admitted her for intravenous fluid therapy. The primary goal was to flush the muscle breakdown products from her system, particularly to protect her kidneys from potential damage. Simultaneously, they initiated a diagnostic workup to identify the underlying cause of her rhabdomyolysis. The most common causes were systematically considered and ruled out. Tests for Streptococcus bacterial infection, a known cause of rhabdo, were negative. Routine laboratory tests yielded normal results. Ultimately, lacking a clear etiology, the medical team tentatively attributed her condition to a viral infection that had somehow targeted and damaged her muscles, leading to rhabdomyolysis. After a few days of treatment, Angel’s CK levels decreased to a safer range, her pain subsided, and she was discharged with the advice to maintain high fluid intake. She recalls being reassured that a recurrence was highly improbable.

Recurrence and Diagnostic Puzzles

Contrary to medical expectations, Angel experienced a second episode of severe muscle pain just two months later. Again, the pain struck in the middle of the night, mirroring the onset of her first significant episode. This time, her CK levels were even more alarming, exceeding 60,000 units per liter. Once again, hospitalization and intravenous fluids resolved the immediate crisis. However, the mystery surrounding the cause of her recurrent rhabdomyolysis deepened. The initial explanation of a sporadic viral infection seemed increasingly inadequate to account for these repeated episodes.

Although the persistent “growing pains” continued to trouble her, Angel managed to avoid hospital readmission for the next three years. However, in March 2012, at the age of 17 and in her senior year of high school, she developed a fever and sore throat. A strep test came back negative, yet her pediatrician, erring on the side of caution, started her on antibiotics. The following day, her muscle aches intensified. The day after, her urine turned the telltale dark brown, the color of cola, signaling another bout of rhabdomyolysis. When the pain persisted and worsened, her parents made the now-familiar trip back to Summerlin Hospital.

She was again treated for rhabdomyolysis, but this time, given the recurrent nature of her condition, a nephrologist, a kidney specialist, was consulted to closely monitor and protect her renal function. Repeated strep tests remained negative. Further investigations were initiated to explore other potential underlying conditions. She was tested for lupus (systemic lupus erythematosus) and thyroid disease, both known to sometimes cause rhabdomyolysis. These tests also returned negative results. While other infections besides Streptococcus can trigger rhabdomyolysis, they are less common, and no infectious agent could be identified in Angel’s case. The question loomed: why would a seemingly healthy young woman experience three episodes of severe rhabdomyolysis within three years, with no clear precipitating factor?

Angel was scheduled for outpatient follow-up, but before that appointment could take place, she was hospitalized yet again. This time, her case was reviewed by a neurologist, and due to some test results suggesting possible liver involvement, a gastroenterologist was also brought into her care team. An MRI of her brain was normal, and extensive testing for autoimmune liver diseases yielded negative results. An abdominal ultrasound revealed a gallstone, but this finding was not considered a likely explanation for her recurrent muscle destruction and rhabdomyolysis.

Detailed medical records from this 2012 hospitalization are available for review (here).

Download Angel’s medical records (July 2012)

The pattern of recurrent episodes continued over the ensuing years. Angel experienced severe muscle pain, sometimes accompanied by dark urine, with increasing frequency. Daily pain became almost commonplace, fluctuating with her activity levels. When muscle soreness began, rest usually provided some relief. However, every three to four months, the pain would escalate dramatically, often triggered by exercise, but sometimes arising spontaneously. Typically starting in her legs, the pain would spread upwards, affecting her back, shoulders, and arms. She described the sensation as akin to the intense ache after extreme physical exertion, but amplified to an overwhelming degree. These episodes, like the one during the hike to Mary Jane Falls, would become so severe that her urine would darken to a cola color, signaling another inevitable trip to the hospital.

A Familiar Routine: Hospitalization and Hope

At the base of Mary Jane Falls trail, Angel’s boyfriend carefully assisted her into her friend’s car for the drive to Summerlin Hospital. For Angel, the emergency room had become a familiar setting. Over eight years of repeated visits, many of the doctors and nurses recognized her, and she certainly knew the hospital protocols by heart. The routine was predictable: blood draws, initiation of intravenous fluids, and administration of pain medication. When the initial blood test results returned, the ER doctor indicated that this appeared to be a milder episode; her CK level was 18,000. The initial plan was to administer fluids to help clear the muscle breakdown products and potentially discharge her later that night. However, after several hours of intravenous fluids, instead of decreasing, Angel’s CK level inexplicably rose to over 33,000. Hospital admission was now unavoidable, necessary to closely monitor and protect her kidneys. It was late by then. She bid farewell to her boyfriend and was finally taken to a hospital room, hoping to get some much-needed rest.

Partial medical records from this December 2017 hospitalization are also accessible (here).

Download Angel’s medical records (December 2017)

After five days, her CK levels had decreased to nearly 1,000, her urine had cleared, and she was discharged. Despite the interruption, she had managed to keep up with her nursing school coursework, thanks to the support of her friends. However, a sense of resignation loomed. Without a significant change in her diagnostic journey, she knew it was highly likely she would be back in the hospital within a few months, facing the same agonizing cycle.

The Unfolding Mystery and the Path Forward

Over the years, Angel has been hospitalized at Summerlin Hospital over 20 times. Throughout these admissions, the primary focus of her medical care has been on managing the acute rhabdomyolysis episodes and safeguarding her kidney function. While several specialists have been involved in her care, attempts to pinpoint the underlying cause of these recurrent episodes have been largely unsuccessful. Two muscle biopsies, performed between hospitalizations to investigate potential muscle fiber abnormalities, both came back as normal. Further diagnostic efforts have been hampered by the frequent hospitalizations themselves. During these acute phases, the immediate medical priority understandably shifts to managing the symptoms that necessitated hospitalization. Complex and unusual conditions like Angel’s often require investigation outside the acute hospital setting. Angel and her primary care provider, Heather Harris, have encountered difficulties in finding a specialist to guide them through this intricate diagnostic process.

Adding to the challenge, Angel admits that her demanding schedule, juggling full-time nursing school with a part-time job as a waitress, has left her with little time or energy to dedicate to investigating her muscle problem. Making appointments, consulting specialists, and undergoing extensive testing require a time commitment she simply hasn’t been able to afford. However, her growing concern about potential kidney damage and a perceived increase in muscle weakness have prompted her to seek further answers. A recent consultation with a neurologist at UCLA has offered a glimmer of hope, and Angel is currently awaiting the results of further tests.

Alt text: Angel pictured in Las Vegas in 2017, depicting her life continuing despite ongoing medical challenges.

Angel’s case remains an unsolved medical puzzle. What underlying condition could explain her recurrent episodes of rhabdomyolysis? What diagnostic avenues should Angel and her primary care provider explore next in their quest for an angel diagnosis? The medical community and insightful readers are invited to consider this complex case, offering their diagnostic suggestions and reasoning. The process of diagnosis itself is often as illuminating as the final answer. Can we collectively contribute to solving Angel’s medical mystery and guide her towards a definitive diagnosis and effective management strategy?

Conclusion: Seeking Collective Wisdom for Angel’s Diagnosis

Angel’s journey underscores the critical importance of collaborative problem-solving in medicine, particularly when facing diagnostic dilemmas. Her case, characterized by recurrent rhabdomyolysis and persistent muscle pain, has defied conventional explanations and highlights the limitations of standard diagnostic approaches. By presenting her story and medical details, we aim to leverage the collective knowledge and diverse perspectives of a broader audience. The hope is that through shared insights and thoughtful suggestions, a clearer path toward angel diagnosis can emerge, ultimately leading to improved care and quality of life for Angel. The medical community, researchers, and anyone with an interest in medical mysteries are encouraged to contribute their diagnostic thoughts and help unravel this complex case.

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