Keeping Abreast of the Times

Hello again everyone and welcome back! Pardon the absolutely cheesy title, but this month I’d like to share parts of a clinical case and discuss some pretty important topics in pathology practice in 2021. While last month’s brief primer on the Cures Act is a definite part of the future of medicine, there are a lot of things developing in our profession—and we should all keep up!

*** Disclaimer: Please note that if/when I share cases or clinical content, they are not current, already signed out, completed and done in compliance full patient privacy guidelines. Always. ***

So let’s dive right in. A rather young male patient was sent to us from an outside facility for mildly painful, uncomfortable bilateral breast lumps. He was noted to have bilateral gynecomastia clinically and was to be evaluated via mammogram and localized needle biopsy. An ultrasound guided core needle biopsy of the left breast was collected from a mass identified on mammography.

Figure 1. Not the typical visual presentation noted on mammography. Biopsy clip marking the location of where the core biopsies were obtained. Male patients can have histologically identical cases of breast carcinoma when compared to females and are often associated with germline mutations, high-risk BRCA1 & 2 status, and Klinefelter syndromes.

Most commonly, when evaluating gynecomastia in a male and considering the diagnostic algorithms including malignancy one worries most about ductal carcinoma: invasive, unspecified type and ductal carcinoma in situ (DCIS) pretty much round off the differential for male breast cancer. Important rule outs include clinical, hormone-related gynecomastia or otherwise relating to germ-line or chromosomal abnormalities (i.e. XXY in Klinefelter), myofibroblastoma, or unrelated distant metastases. So without too much clinical information or history—since this was an outside referral—the differential of potential considerations was pretty short therein.

The biopsy was completed shortly after mammography and was signed out as: fibroadenoma.

Wait. What?

Fibroadenomas are benign and, along with potentially malignant phyllodes tumors, come from mammary tissue, demonstrate biphasic cellular components of benign epithelium (or low-grade stroma).

Translation: to have one of these entities you need mammary tissue, specifically terminal ductal/lobular units to form the necessary architecture changes.

Simpler translation
: fibroadenomas need breast tissue to be fibroadenomas.

Okay, there definitely appears to be breast tissue here to form this entity, however, it is incredibly rare for a male patient (outside of the previously mentioned conditions) to have anatomically functional lobular units. With the other etiologies ruled out, further investigation into the patient’s history was warranted. It was discovered that this patient, although male by indication on referring paperwork, actually identified as female and was on gender affirming hormone therapy for several years. A considerably simple explanation for the confounding biopsy result.

Transgender medicine and transgender pathology considerations have been talked about more in recent years than ever before. While these patients have always existed, societal changes in the last decade alone have brought to light many disparities in medical care and practice habits overall. Here on Lablogatory, there have been between 20-30 mentions of transgender patients since 2018 with entire pieces dedicated to transgender endocrinology, clinical chemistry, etc. Specific examples have included the complicated intersection of transgender care and electronic medical records, various lab values in trans patients, and an excellent overview of laboratory medicine and trans patients by Dr. Jeff SoRelle. There he discusses approaches, literature, and—most importantly—the purposeful vocabulary of transgender medicine as an empowering and informative practice.


Image 2. A 2016 paper in Laboratory Medicine highlights this patient population’s challenges to quality and equity in healthcare and establishes that gatekeepers to data—including us—should consider new ways to create inclusive laboratory medicine practices to maintain our high standard of care. Read it here.

While, this case was rather straightforward after the discovery of the patient’s history of gender affirming therapy, there are still several critical points to highlight here. First, it’s critically important in the setting of medical care to correctly and compassionately include gender identity in patient records—within the caveat of appropriate confidentiality and patient autonomy. Patient care, health management, and diagnostic efforts like ours may rely on a simple biological indication of how this patient presents and experiences their identity with relation to their clinical course. This further strengthens relationships between trans patients and their primary care providers, as well as non-patient-facing specialists like us who often put pieces of the puzzle together without an entire history at our disposal. How does this impact patient care? Simple: a trans male patient may always carry a residual indolent risk of breast cancer, while a trans female patient may need to be included in future mammogram screening. The bottom line should consider treating who you have, and screening with what you have to. Since this patient was sent because of breast lumps, as a male patient a biopsy report of “fibroadenoma” would be exceedingly rare and confounding because of normal physiology outside of specific genetic conditions. But with the right information at the right time, better patient-centered care is possible.

Finally, as a note about proper terminology, vocabulary, and available guidelines in the literature, there is both a paucity of effective transgender medical guidelines as well as a poor grasp on the terminology. Dr. SoRelle does a fantastic job with a short vocabulary outline, but we should all do better. The experiences of our trans patients is challenging to say the least, so as we continue to become stronger and closer advocates for patients in pathology and laboratory medicine, we must become familiar with their experience and advocate for the progress of inclusive medical care.

Trans patients are special, and we are specialists.

Making sure they received the highest level of care alongside all our other patients should be guaranteed. Whether in our clinical chemistry labs or surgical pathology sign outs, we already know how to create an environment of accuracy and enduring inclusion for all our patients—let’s keep it going!

Thank you for reading, I’ll see you next time!

Constantine E. Kanakis MD, MSc, MLS(ASCP)CM is a first-year resident physician in the Pathology and Laboratory Medicine Department at Loyola University Medical Center in Chicago with interests in hematopathology, transfusion medicine, bioethics, public health, and graphic medicine. He is a certified CAP inspector, holds an ASCP LMU certificate, and xxx. He was named on the 2017 ASCP Forty Under 40 list, The Pathologist magazine’s 2020 Power List and serves on ASCP’s Commission for Continuing Professional Development, Social Media Committee, and Patient Champions Advisory Board. He was featured in several online forums during the peak of the COVID pandemic discussing laboratory-related testing considerations, delivered a TEDx talk called “Unrecognizable Medicine,” and sits on the Auxiliary Board of the American Red Cross in Illinois. Dr. Kanakis is active on social media; follow him at @CEKanakisMD.

When Gender Goes Awry in Electronic Health Records

For most people working in laboratory medicine, their first encounter with transgender patients likely arose from an issue involving the Electronic Health Record (HER). For me, I was called into the reference lab, because an abnormally high estradiol result was found by the referring lab. They were concerned this might be coming from a hormone secreting tumor, but inspection of the patient’s record revealed they had been taking higher than recommended doses of their feminizing hormones.

Today I will share stories from issues that arise in EMR when gender doesn’t equal sex. While these may not specifically happen to all of you, I hope they can be informative or help you anticipate future problems.

Transgender issues came up at one of our institutions when providers were getting dozens of messages in their in-baskets about new flagged lab results for multiple patients. This is very annoying, because they have to address each of these messages or they are out of compliance with the hospital. An investigation revealed that all of the patients involved were transgender patients. In order to get estradiol, sold as oral contraception pills, the pharmacy had to administratively change their sex in the EHR for approval, then change it back.

This moved their corresponding reference ranges out of sync, which triggered a new results flag. Changing the sex back triggered other flags and more messages. This was finally resolved after a committee was convened and several meetings occurred, but no one would have anticipated this type of issue arising from a simple action to get patients their medicine.

Sometimes transgender patients have their sex changed legally. If an EHR only includes one sex entry instead of gender and sex assigned at birth, then certain lab errors may prevent processing of important samples. The pregnancy test for a transgender man could be auto-rejected. This can be an issue even for providers in front of the patient as was recently reported in a case to the NEJM about a transman who was mistaken as obese instead of pregnant and miscarried their child.

Similarly, a prostate biopsy from a transgender woman could be auto-rejected by a surgical pathology system as an inappropriate specimen type for the patient. Even further, an EHR could fail to prompt a provider from making a prostate cancer risk assessment in a transgender woman, which could result in improper screening.

I would recommend that EHR includes three separate fields (sex assigned at birth, gender, and legal sex) to fully recognize transgender patients and provide optimal personalized healthcare to them.

References

  1. Gupta S, Imborek KL, Krasowski MD. Challenges in Transgender Healthcare: The Pathology Perspective. Lab Med. 2016 Aug; 47(3):180-188.
  2.  Stroumsa D, Roberts EFS, Kinnear H, Harris LH. The Power and Limits of Classification – A 32-YearOld Man with Abdominal Pain. N Engl J Med. 2019 May 16;380(20):1885-1888. doi:10.1056/NEJMp1811491.

-Jeff SoRelle, MD is a Chief Resident of Pathology at the University of Texas Southwestern Medical Center in Dallas, TX. His clinical research interests include understanding how the lab intersects with transgender healthcare and improving genetic variant interpretation.

The Paperwork of Transgender Care

I don’t think anyone enjoys filling out the paperwork at a doctor’s office. For transgender individuals, this can be an experience that ranges from irksome to offensive. Most intake forms don’t allow for expression of their gender identity. Furthermore, confusion on gender and sex can create real confusion and healthcare failures in several places that laboratory medicine encounters a transgender individual.

Arguably the first place the lab encounters a transgender patient is via the phlebotomist. These professional collectors of blood must confirm two patient identifiers, which are often name and date of birth. The “name” used is the legal name. Using a transgender person’s “dead name” (name given at birth) represents a gender they do not want to be associated with and can be a very offensive experience. “Isn’t it obvious that name is not what I look like?”

While names can be legally changed, this happens with varying difficulty and legal cost in different states. A solution is to improve training of phlebotomists to explain the necessity of confirming a legal name so lab results are properly matched to the patient. Additionally, front-desk intake workers should be similarly trained to interact with transgender patients when recording demographic information. This can be aided by electronic health records (EHR) becoming more flexible and inclusive of the gender diversity.

Traditionally, EHR would only include one field for SEX: M or F.

Several in the laboratory community have asked how many different gender options should be included? Facebook included up to 71 options in 2017. That’s a big step up from the 2 traditional EHRs are built around.

The World Professional Association for Transgender Health (WPATH) executive committee in 2011 outlined the recommended fields to include in EHR: preferred name, sex assigned at birth, gender, and pronoun preference. EHRs are evolving and can be flexible depending on the user requirements. At my program, we use EPIC at 3 different different sites (children’s, county and university hospitals) and each has a different version.

From what I’ve seen preferred name is an easy addition and would not interfere with functions of the EHR or Laboratory Information Systems (LIS), which is the Lab’s version of EHR.

If the field for sex assigned at birth is different from gender, then it would clear up any confusion about whether the person is transgender and then they should be addressed by the pronouns matching the gender. While there is a spectrum of genders, only transgender males and transgender females are of a high enough prevalence to have medically relevant recommendations. Plus, if a system at least starts here, they could expand further as necessitated by their population.

EHR could include preferred pronouns, but I haven’t seen this implemented in an EHR yet. Ideally, you would just use the pronouns that match the intended appearance of the individual (ma’am to someone wearing a dress, etc.).

Lastly, I think Legal sex should be added to the EHR as well. One of our hospitals has this and it makes several processes easier such as processing hormone medication.

Legal (or administrative) sex, sex assigned at birth, and gender data fields provide the clearest and simplest picture of a patient and should be a minimum for labs making recommendations for changes to HER.

Next month I will describe in greater detail the issues that can arise in the lab when gender or sex are entered incorrectly in the system for transgender patients and how this can negatively affect care delivery.

References

  1. Deutsch MB, Green J, Keatley J, Mayer G, Hastings J, Hall AM, World Professional Association for Transgender Health EMR Working Group. Electronic medical records and the transgender patient: recommendations from the World Professional Association for Transgender Health EMR Working Group. J Am Med Inform Assoc. 2013 Jul-Aug; 20(4):700-3.
  2. Gupta S, Imborek KL, Krasowski MD. Challenges in Transgender Healthcare: The Pathology Perspective. Lab Med. 2016 Aug; 47(3):180-188.

-Jeff SoRelle, MD is a Chief Resident of Pathology at the University of Texas Southwestern Medical Center in Dallas, TX. His clinical research interests include understanding how the lab intersects with transgender healthcare and improving genetic variant interpretation.