As the physicians employed by a government hospital, we frequently encounter patients facing significant social and financial challenges. This often leads to a sense of isolation within the medical community. At Cook County Health in Chicago, we provide medical care to 50% of the uninsured population in Cook County, the second-most-populous county in the United States with over five million residents, more than 10% of whom are without health insurance. The remaining 50% of care for uninsured individuals is distributed among the other healthcare systems in the region.
Our story begins to unfold in 2018, when a 52-year-old Spanish-speaking woman was referred to our lipid clinic for severe hypercholesterolemia, with an LDL-C level of 394 mg/dL (10.2 mmol/L). Since our institution serves a large non-English speaking population, with up to 50% Spanish speakers, we have iPads readily available in clinical areas for interpretation services provided by Language Line Solutions. The video option was utilized for interpretation to obtain her medical history. The patient had been aware of her condition since 2004, although no specific diagnosis had been provided. She had not received any treatment since 2005 due to "intolerance." Conducting her physical exam was like reading a textbook: bilateral periorbital xanthelasma, corneal arcus, bilateral tendinous xanthomas on the dorsal aspects of both hands, and thickened Achilles tendons.
Family history was remarkable for both parents battling hypercholesterolemia. Her mother suddenly died at 69, while her father passed away at 70 from unclear causes. Among her 14 siblings, she was aware of one sister with high cholesterol. Additionally, her 36-year-old daughter also had high cholesterol, while her son refused to seek medical attention.
After explaining familial hypercholesterolemia (FH) to the patient, genetic testing was conducted once we confirmed with the genetics company that she qualified for no-cost testing due to her low income. She appeared frightened and concerned about her ability to continue working in cleaning services, which constituted her sole source of income. To make ends meet and maintain a roof over her head, she held two, sometimes three jobs, predominantly working the night shift.
While in the clinic hallway, we noticed our patient talking to a young woman with three children who had also been referred for severe hypercholesterolemia. To our surprise, she turned out to be our patient's 36-year-old daughter. Similarly to her mother, she displayed all the phenotypical features of FH during the examination. After noticing bilateral corneal arcus in her 11-year-old daughter, we proceeded to obtain samples for genetic testing from both of them. Unfortunately, the 36-year-old mother never followed through with dropping off the saliva samples at the mailbox as promised. She missed her follow up visits and did not respond to our phone calls. She ceased all communication with her mother. A year later, she underwent percutaneous coronary intervention (PCI) to the left anterior descending artery (LAD) but never followed up after the procedure.
Our 52-year-old patient’s genetic test revealed a pathogenic LDL-receptor variant (c.2389G>A), confirming heterozygous FH. Her medication management proved challenging; despite trying multiple statins, including the lowest doses twice a week, she experienced severe muscle pain and weakness. With the addition of Ezetimibe and Colesevelam (available at no cost to the patient via our pharmacy), her lipid control remained inadequate.
Her complaints of fatigue on exertion prompted an ischemic workup, which revealed severe three-vessel coronary artery disease (CAD). During the heart team meeting, the patient was deemed high risk for surgical revascularization due to significant calcification with ulcerations of the aortic root and arch (“porcelain aorta”). This led to a pivotal decision for PCI to the proximal and mid-LAD with medical management of the residual CAD.
With the help of a medication assistance program from the manufacturer, we added Evolocumab 140 mg biweekly. However, this resulted in no change in LDL-C levels. Given that her lipoprotein(a) was not elevated (48 nmol/L) and genetic testing ruled out homozygous FH, we suspected incorrect or missed injections. Our clinic staff administered the injections every two weeks, but LDL-C levels remained unchanged. Subsequent attempts with Alirocumab, also provided through a patient assistance program, yielded similarly disappointing results. Due to the patient's lack of medical insurance and limited options for lipid-lowering drugs, we applied for Evinacumab, an angiopoietin-like 3 inhibitor, through the MyRARE patient support program. Despite the patient's non-US citizen status and financial constraints, we successfully secured this treatment for phenotypic homozygous FH with the generous support of MyRARE and Regeneron. This support included monthly nursing visits for drug infusion, provided free of charge to the patient. Finally, the patient's LDL-C levels dropped significantly to 160 mg/dL (4.1 mmol/L), marking the first substantial improvement since her diagnosis in 2004.
During the COVID-19 pandemic, she lost her job and had to reside in a shelter provided by her church. She qualified for Medicaid coverage during this period, therefore Evinacumab could no longer be covered by MyRARE. Despite multiple prior authorization requests to her insurance, accompanied by appeals, the drug was denied. The insurance insisted on placing her back on PCSK9i first, as we could not provide records of her pharmacy filling dates for PCSK9i in the past. After her third Alirocumab injection, the repeat lipid panel was pending. Unfortunately, she was attacked and assaulted while riding a bus to the hospital, causing another delay in receiving her vital therapy. Throughout these challenges, the Regeneron team supported her case and offered assistance with private transportation to ensure her lab draws were completed. When her lipid panel was finally obtained, there was still no change in LDL-C levels. Just as we were preparing to submit the results, her insurance coverage ended with termination of the COVID-related Medicaid expansion. Fortunately, MyRARE resumed coverage for Evinacumab, allowing her to continue receiving treatment to the present day.
Our patient's FH journey stands out as a powerful story. It underscores not only the clinical complexities of managing FH but also the systemic barriers faced by patients navigating medical and socio-economic challenges. Personally, we’ve learned once more to never accept a “dead end street” in healthcare, and to persist in ensuring access to crucial therapies.
Useful Tips and Tricks While Navigating Challenges:
Seek Patient Assistance Programs (PAP): Research and apply for pharmaceutical assistance programs that offer financial aid or free medications for patients facing economic hardships. Some useful programs include:
- Alirocumab: Praluent Patient Assistance Program
- Evolocumab: Repatha SupportPlus
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Evinacumab: MyRARE Patient Support Program
Consider 30-Day Free Drug Trial Cards: These can be particularly useful while prior authorizations are pending.
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Repatha Free Trial Card: Repatha Free Trial
For Genetics PAP:
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GBinsight (first 10 kits free): GBinsight Patient Assistance Program
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Ambry Genetics: Ambry Genetics Billing and Insurance
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Invitae: Invitae Billing
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Prevention Genetics (complementary FCS testing sponsored by IONIS): Prevention Genetics Sponsored Testing
Utilize Telemedicine: Use telemedicine services for convenient and accessible healthcare consultations, which can be particularly beneficial during times of limited mobility or financial strain.
Provide Educational Resources for Patients, like NLA Patient Tear Sheets: Lipid.org Patient Tear Sheets
Dr. Pyslar has no financial relationships to disclose. Dr. Sharma has no financial relationships to disclose. There are no references for this article.
Article By:
Cardiovascular Medicine Fellow, PGY-5
Cook County Health
Chicago, IL
Associate Professor of Medicine
Faculty Cardiology Attending Physician
Director of Lipid Disorders Clinic
Director of Cardiovascular Genetics Clinic
Cook County Health
Chicago, IL