Unveiling perceptions: a small-scale qualitative case study related to patient experience of inpatient screening for familial hypercholesterolemia

Familial hypercholesterolaemia (FH) is a genetic disorder disrupting the metabolism of low-density lipoprotein cholesterol (LDL-C) from birth and contributing to the development of premature atherosclerotic cardiovascular disease (ASCVD).¹ Without treatment, 50% of men develop ASCVD by age 50 and 30% of women by age 60.²

FH is transmitted through dominant inheritance, resulting in each child of an affected parent having a 50% likelihood of inheriting the disorder.¹ An estimated 14–34 million individuals worldwide are thought to be affected, with diagnosis rates varying across countries but commonly remaining below 10%.³

The prevalence of FH among individuals hospitalised for acute atherosclerotic cardiovascular events is reported as high as 38.1% in very young patients(less than 35 years) and between 9–14% in those younger than 65 years.^4,5 In 1997 a panel of international experts provided advice to the World Health Organization on the significance of early detection of FH. Advice highlighted the importance of diagnosis in initiating and intensifying treatment, assisting with adherence to treatment and enabling cascade testing of family members.⁶ Since then, a growing body of patient feedback and research has reinforced the importance of early detection of FH. Guidelines recommend screening for FH following diagnosis of premature atherosclerotic disease.^1,7Screening uses validated assessment tools, the most frequently employed being the Dutch Lipid Clinic Network Score (DLCNS).³However, guideline implementation and screening remain inadequate⁸ and knowledge among general practitioners (GPs) and other primary care practitioners is limited in some respects.⁹

Methods

This qualitative interpretivist study was guided by the constructs of the original Consolidated Framework for Implementation Research (CFIR).¹⁰ The CFIR provides a comprehensive range of constructs through which to examine “formative evaluations of interventions in context”.¹⁰ The original paper introducing the framework recommended choosing suitable constructs from the framework to guide assessment of need for an intervention/innovation.¹⁰ Given the limited research available on the topic, it was decided to broadly assess both the need for and the acceptability of the innovation to allow for any potential barriers to come to light unrestricted by prior assumptions. For this reason, a semi-structured interview guide was developed to explore perceptions relating to all five domains of the framework: the characteristics of the intervention itself (Intervention Characteristics); the inner and outer organisational settings (Inner Setting and Outer Setting); the individuals involved (Characteristics of Individuals) and the process of implementation (Implementation Process).^10,11

Research questions

1. Is screening during an inpatient admission perceived appropriate and beneficial? (CFIR domain one: Intervention Characteristics).
2. How does the screening practice impact on the participant and their family? (CFIR domain two: Outer Setting).
3. How can information from this study inform future policy design, and implementation and integration into the clinical care setting? (CFIR domain three: Inner Setting).

Ethics

This study was approved by the Research Ethics and Governance Office (REGO), Royal Prince Alfred Hospital, Sydney, Australia, with approval number 2021/ETH11398 and site-specific assessment approval X21-0353 - 2021/STE04057.

Participant recruitment and profile

An inpatient screening innovation was undertaken from April 2021 until August 2021 when it was paused due to COVID-19 ward closures and suspension of non-essential research activities. During this time, a nurse-led screening strategy monitored electronic patient records in acute and intensive cardiac units. Records were screened against the five criteria of the DLCNS,¹² specifically: family history; clinical history; physical signs, such as the presence of arcus cornealis prior to age 45 years or xanthomata at any age; LDL-C levels; and genetic testing. A score of <3 is unlikely, with 3–5 possible, 6–7 probable and 8 or more definite.¹² In Australia, genetic testing is Medicare funded for those with a DLCNS of at least 6.¹³ Those meeting at least the probable threshold for FH were approached and further assessed if consenting.

After the screening practice ceased, inclusion criteria were expanded to also include inpatients screened by their attending team. Nineteen people who had undergone inpatient screening or had sufficient evidence in the medical record that screening for FH had occurred by the attending team were invited to participate. Five (26%) consented; however, the data set for one was incomplete due to a recording error and was thus excluded. The profile of the four participating patients who had undergone inpatient screening for FH are as follows:

• Male, age 55 years, admitted with positive angiogram requiring stenting.
• Female, age 48 years, with acute coronary syndrome.
• Male, age 44 years, with acute coronary syndrome.
• Male, age 61 years, with acute coronary syndrome.

Data collection and analysis

Participants consented to one semi-structured interview, which was undertaken via Zoom, by a genetic counsellor from the Familial Hypercholesterolaemia Clinical Support Service not directly involved in the innovation. Interviews were conducted after FH screening had occurred and the patient had been discharged from hospital with results pending at the time of interview. Interviews were recorded, transcribed verbatim and underwent thematic analysis recommended processes for the analysis of qualitative data.¹⁴ A deductive approach was used to identify themes, patterns and connections across the data and create preliminary codes to guide analysis.^15,16 An inductive approach allowed the reality of the participants to be represented and is appropriate for exploring a phenomenon not previously explored.^15,17

Data were thematically analysed using the six-step process described by Braun and Clarke.¹⁴ The steps in this process were familiarisation with the data, generation of initial codes, searching for factors relevant to the research question, reviewing themes, defining themes and naming of themes, prior to being able to report results.^14,18 This process incorporates deductive and inductive approaches. The deductive approach helps identify patterns and connections across the data and create preliminary codes to guide analysis.^15,16 The inductive approach allows the reality of the participants to be represented and is appropriate for exploring a phenomenon previously not explored.^15,17 Data were coded with the support of Lumivero NVivo® software (version 12).¹⁹ During thorough and systematic review of transcriptions, further themes and relationships between codes emerged. Codes were confirmed after multiple readings of the transcribed data and represented manifest concepts repeated within and across multiple transcripts. A thematic map was used at this stage to visualise relationships between identified themes and related themes and their relationship to the CFIR constructs. The three themes and the overarching, encompassing theme of effective communication were revised after reviewing the coded data to ensure they were supported by sufficient evidence and were valid. The entire data set was then re-read and coded to the new themes.

Results

Participant perspectives were assessed with consideration to the research questions informing this study, with analysis highlighting three key inter-related and connected themes: 1) family history; 2) health system functioning; and 3) value of screening (see Figure 1).

View Figure 1, Box 1.

Each of the three themes operates within the overarching and encompassing theme of effective communication, reinforcing its central importance and highlighting how they collectively contribute to clear and meaningful interactions. Both positive and negative perspectives and experiences were noted within each theme.

Theme 1: family history of hypercholesterolaemia

Participants talked of their experience in first becoming aware of FH and the possibility that their condition was familial in nature.

“And then I found out afterwards, when I contacted my mother, and then she told me about all these other people in the family … so like, I now feel like this whole time I’ve been a ticking time bomb.” – P02

“Actually, it’s been explained to me when you came to me … this was the first time about the genetic … this was the first time anyone talked to me about it.” – P03

Participants then went on to talk about their family, and how they would communicate and engage in follow-up conversations with parents, children and others.

“I don’t have a lot of family, but I would say it’s allowed me to have those discussions with … other people who maybe they are not in that direct familial chain, but it doesn’t mean that other people don’t have these things in their family.” – P02

“As I did explain to my kids … I’ve probably inherited this from my mum. And there’s a good chance that one, maybe two, or all of them could have inherited this too from me. And we all went off and got a cholesterol check.” – P04

Theme 2: health systems functioning

Positive feedback was provided in respect to aspects of communication and care during inpatient stay.

“They provided as much education as they could … I was taken very good care of.” – P02

“The team was very good. But I think the co-ordination between the departments needs to be just a little more.” – P03

Suggestions to improve included the need for improved formalised plans of care and better responses to initial and historical concerns. 

“You know, if something like this was done years ago, then it probably would have benefited me. So, you know, hopefully, in the future, this will benefit my kids or something like, yes, so I thought it’s a good idea.” – P04

“He’s [specialist] supposed to give me the correct, ah, treatment plan, or at least to try a different treatment plan till we reach the proper one … because I keep complaining from the same things for the last 3 years.” – P03

“The co-ordination, and out and in, and actually even the paperwork transfer, is very poor. I’m sorry for that.” – P03

“What’s more expensive, putting someone in a proactive maintenance plan, or waiting until they’re in hospitals?” – P02

The need for formalised discharge planning and follow-up was highlighted as a key expectation of health systems functioning.

“In the hospital they do the angiogram … you’ll feel much better when you leave, but then you just start thinking what am I going to do? … To have more follow-up … 6 months is very, very far time between leaving the hospital and getting the first consultation.” – P03

“But you haven’t scheduled like a plan together and say, listen, we found this now but I need you to come back and do this at this point … these are the targets we need you to follow, and in order for you to get there, you need to do this, this and this, I suggest you go and see these people, and next time we meet … we’ll get the report from that person, that person, that person, and let’s see which direction you’re heading. And then we can intervene. But if there’s no plan, you can’t intervene at the right time. It’s lost.” – P01

Theme 3: value of screening

Participants questioned the lack of previous investigation and action and wondered why FH screening was not more proactively offered.

“Why was no one ever talking about this [need for screening] … I’ve been telling doctors about this for 30-something years.” – P02

“I’m just baffled … no one was looking at this with me, was putting me on a plan. No one was saying, look, we probably need to be checking for these risk factors, like no one.” – P02

“I think there’s just ... this awareness needs to just be out there. But I think it needs, the GP [or] community needs to, or whoever, needs to work on making sure that this is now a part of any regular screening … this has to start happening.” – P02

“The first time I saw you [Familial Hypercholesterolaemia Clinical Support Service] was in my third visit to the hospital, not the first visit … this wasn’t offered to me in the first or second time or with … my GP … or my cardiologist, nothing.” – P03

“And the medicine didn’t [have an] effect. Yeah, it’s a slight [increase], but it’s always there. No one [bothered] to check why the medicine is not working and why [I] always have a slightly high cholesterol, and I get that bad blockage. And believe me I tried, I [made] contact, I tried to call too, I talked to my GP and my cardiology about this and both of them [said] no, no, no.” – P03

A high level of acceptance was noted once participants had been made aware of the option for FH screening.

“I just thought was a really good idea, someone coming in and approaching you … I just thought it was a really good thing that they’re doing there.” – P04

“I was really happy to get that kind of feedback [after screening] … it was nice to be able to talk to someone, especially about that … I just thought, yeah, this sounds like it’s, you know, what’s happened to me.” – P04

“But I would be happy to get screened. Everyone would be happy to participate in something for the benefit of their health … or knowing that it is beneficial to know, rather than not to.” – P01

“I love talking about this with people because I think they need to know and then I get actually a lot of questions.” – P02

Overarching theme: communication

The need for increased communication was central to all responses across all the inter-related themes. 

“No one gives me, no one actually gives me any … answer … they gave me a lot of reasons … it could be genetic, it could be a lot of things, but I want to know exactly what I have … the uncertainty actually gave me a huge depression … it’s the confusion.” – P03

“It’s like a rudderless ship … I feel sometimes you’re, you think you’re going in the right direction, all of a sudden the wind blows, you see something, you hear something, but you need a little bit more definitive information from all these providers to know you’re on the right track.” – P01

“I was like, it’ll probably happen … I guess I didn’t know how and why and when, and what we could have been doing about it.” – P02

The need for communication to facilitate co-ordinated information flow was strongly emphasised by participants.

“The system’s disjointed … that transfer of communication and information is missing, like every single stage, whether it’s scans, whether it’s bloods, whether it’s hospital admission.” – P01

“Surely … my doctor should be sending a referral with all my ailments or medication or this or that to the specialist appointment … hit a button and it should all be there … how beautiful would it be, just a pop and it’s gone through to the doctor before your visit, so he can study it.” – P01

Discussion

Three research questions informed the design of this study: participants’ perspectives of inpatient screening; the impact of screening on patients and families; and sourcing feedback to usefully inform future policy design and implementation. The three inter-related themes: family history (CFIR Characteristics of Individuals); health systems functioning (CFIR Inner and Outer Setting) and value of screening (CFIR Intervention Characteristics) were each connected with the encompassing and overarching theme of communication.

Question 1: participant perspective of inpatient screening

All participants viewed the screening activity positively. This is consistent with previous research into the value of genetic testing for FH in individuals and their families.²⁰ Participants highlighted how screening increased awareness of their risk of developing disease (sometimes for the first time) and emphasised the need for being more proactive in screening regimes. While screening was viewed positively, responses provide detailed insight into areas of health service improvement that need to be associated with the screening activity, including individualised care planning, timely follow-up and effective co-ordination of care across professions and departments. Participants expressed considerable disbelief that screening is not routinely implemented and strongly emphasised the necessity of integrating screening into standard clinical practice.

Question 2: impact of screening on patients and families

The increased awareness of the risks associated with FH resulted in discussions of potential increased risk with participants’ families with recognition of how screening could be of benefit to them. The importance of early screening was emphasised. This resonates with research identifying genetic testing as providing an explanation for elevated cholesterol and reassurance that their lifestyle choices were not solely responsible, as well as providing motivation to commence or increase treatment and encouragement to carry out cascade testing.⁹

One participant described his perception that an earlier diagnosis may have benefited him. He recognised the benefit of screening for his children and ensured his children had baseline cholesterol levels recorded as recommended for young people with a family history of premature ASCVD.²¹

Participants viewed screening positively and largely expressed surprise that they had not previously been screened given their risk factors. This is consistent with previous research into the value of genetic testing for FH in index cases and their families. Hallowell et al. found genetic testing was viewed positively and as an unexceptional event, providing an explanation for their elevated cholesterol and allowing younger members of the family to be cascade tested.²² Other studies have drawn similar conclusions, demonstrating that a genetic diagnosis can provide reassurance that their lifestyle choices were not solely responsible for elevated cholesterol, provide motivation to commence or increase treatment and provide encouragement to carry out cascade testing.^23,24 

In relation to family history of premature ASCVD, all four participants expressed being aware of this and being aware it increased their risk, and they had openly shared this information with care providers. A 2013 study into the use of family-history information in primary care revealed several obstacles to efficient use.²⁵ It was found that healthcare providers rarely followed guidelines in the use of family history or utilised standardised screening tools and reported lack of time and unreliable information provided by patients as barriers.²⁵ Calls to increase awareness and utilise family history to screen and identify individuals with FH have followed in the years since.^4,26 Unreliable information is not the situation in this case, as participants were able to clearly outline their family histories; however, lack of awareness and failure to use standardised screening tools could provide some explanation as to why participants were, in general, surprised that screening for FH had not been performed earlier. The innovation at the centre of this study assisted in identifying individuals with FH via the use of a standardised screening tool (DLCNS) and had the potential to increase awareness in the inpatient setting where screening for FH was uncommon.

Question 3: informing future policy design and implementation

Guidelines from the European Society of Cardiology, European Atherosclerosis Society,⁷ the Cardiac Society of Australia and New Zealand¹ and various global experts, recommend screening of individuals with premature atherosclerotic disease for FH. Core to the focus of this study, participants perceived inpatient FH screening to be advantageous and recommended that this be implemented more widely as part of routine practice for patients with at risk cardiac profiles.

Participants highlighted the importance of having a clear plan of care and follow-up communicated to them after his/her inpatient admission. The frustration expressed by two participants regarding having no clear plan of care and follow-up communicated to them after their inpatient admission was notable. The need for prompt follow-up and documented appointments has been found to improve patient outcomes and reduce re-admission rates.²⁷ It is possible that screening for FH could form part of the post-discharge follow-up, as suggested by one participant, regarding not being sure what to do after discharge.

Points raised regarding the healthcare system reflect a view that care providers are time restrained and that the system does not operate as a coherent organisation. This is consistent with the findings of Ellis et al. who found Australians to perceive the healthcare system as having an inadequate workforce capacity²⁸ and Harrison et al. who found staffing levels and co-ordination between services to be important influences on diverse patient experiences.²⁹ While suggesting systemic changes within the healthcare system is outside the scope of this study, it is relevant to consider the reality of system functionality as context for the innovation, with the overarching need for communication a core pillar of quality health system functioning.

Communication emerged as a central theme across participant perceptions. This reflects findings demonstrating good communication to be key to the quality of patients’ experiences.³⁰ The importance of communication failures in healthcare has been widely studied, with recognition that effective communication is essential to the provision of safe, quality care.³⁰ 

The identification of the importance of clear communication is consistent with an earlier study undertaken by Hallowell et al. in which communication was seen as a central theme linking all participant responses.²² A meta-narrative review, undertaken by the Sax Institute, examining patient experiences in Australian hospitals, found communication to be the key factor impacting the quality of patients’ experiences.²⁹ The importance of communication in healthcare has been widely acknowledged and studied. Asnani recognises that effective communication is essential to provide care, and without it even the most knowledgeable doctor will be of no help to the patient.³¹ While the sample size of this study is insufficient to analyse characteristics of patients and the effect of these on their perceptions of communication, it is possible that in some contexts, interactions were influenced by language barriers and racial or cultural factors.^29,32 These obvious impediments to effective communication are factors that providers should strive to remove.

Recommendations

Ideally, the possibility of FH diagnosis should be considered as soon as possible, preferably during the admission. The underlying concern being that leaving it to be addressed post-discharge could lead to significant delay, or FH remaining undiagnosed, particularly as FH is not widely investigated in general practice. The need for prompt follow-up and documented appointments has been recommended to improve patient outcomes and reduce re-admission rates.¹ While not the intent of this study, it is possible that screening for FH, where indicated, could form part of the post-discharge follow-up and also be made clearly visible for the GP. Equally, clear discharge and communication policies would go a long way to address participant concerns about being unsure what to do after discharge and the length of time until follow-up.

Strengths and limitations

A limitation of this study is the small number of participants. Conversely, the study strength is associated with original data collected directly from participants in an in-patient setting. The research was curtailed due to the widespread restrictions caused by the COVID-19 pandemic and so is presented as a small-scale qualitative case study. Albeit a small-scale study, it is hoped that the participants’ voices can encourage future research and routine inpatient screening for those at risk of FH.

Conclusion

FH is a hereditary, genetic disorder disrupting the metabolism of low-density cholesterol. The prevalence of FH is significantly higher in individuals with premature ASCVD compared to the general population; however, screening is limited, particularly in inpatient settings.  

Participants in this study confirmed screening and accompanying conversations as beneficial for them and their families, confirming screening for FH is acceptable to those admitted to hospital with premature ASCVD.

Of note, participants considered FH screening to be beneficial to themselves, families and the wider community. They highlighted the need to improve communication and integration across the healthcare system. Participants’ views convey the value of screening for FH during inpatient admission and its potential to improve patient outcomes. Increased knowledge among GPs and other primary care practitioners would also contribute to heightened awareness and screening. This small-scale study can inform future research and efforts to develop a sustainable and robust FH inpatient screening programme.