Adults’ experience of PKU clinic

Dr Fatma Ilgaz from Hacettepe University in Turkey gave the final presentation at the NSPKU 2024 conference. Dr Ilgaz reported the findings from a survey of adult PKU patients.

PKU is no longer a paediatric disease

The presentation held important lessons on how Adult PKU patients feel about their clinics. However, the critical message came at the start of Dr Fatma’s presentation when she stated: PKU is no longer a paediatric disease.

PKU is no longer a paediatric disease.

From discovery, through initial development of restricted diet therapy, to the clinical trials on new treatments toady, the focus of PKU practitioners has been on children. Though there have been good reasons for this emphasis, it was a relief to hear a clinical researcher to declare this to a packed room. This acknowledgment is needed as, although the condition is the same, adult PKU have different experiences than in childhood. Further, there are clinical trials available to children, from which adults are excluded.

Although the condition is the same, adult PKU have different experiences than in childhood.

Survey of PKU adults

The survey was conducted online over winter 2021-2022, a time when many in the UK felt isolated during Covid-19 lockdowns. The 74 respondents aged over 18 lived across the UK, and were mostly female. The majority were adults with PKU, though some caregivers did respond too.

Key aims of the survey:

• Is the medical care provided by adult hospitals / clinics accessible and sufficient?
• What do adult PKU patients expect from clinics, compared with the support and care they receive?
• What are the barrier and motivation of attending clinics as an adult

PKU clinic attendance in adults

The vast majority of the responding PKU adults, 3 in 4 were currently seeing a specialist metabolic consultant. That may be due to self-selection, perhaps those adults who were already engaged with PKU are more likely to respond to a survey.

Barriers to PKU clinic attendance

There were five key barriers to clinic attendance identified as part of the survey. The main barrier was the difficulty in obtaining appointment. This was not only due to time and financial restraints, but also because of the stress and anxiety involved in the process.

1. Difficulties obtaining clinic appointments
2. Communication problems
3. Clinic discharge
4. Self discharge
5. Denial about PKU

The wording for that last reason comes from the researchers. I do wonder why that wording was chosen when the example given is from the patient’s perspective: “I feel I manage my PKU”.

Coexisting medical issues

The survey asked about the other medical issues which adults with PKU manage alongside their PKU. While an enviable 6% of respondents reported no co-existing conditions, the survey found that:

• 53% of adults with PKU, particularly females, have weight issues
• 42% have a tremor or hand shakes

Other significant co-existing conditions reported were:

Oral health, sleep disturbances, digestive problems, nutrient deficiencies, joint pain, dizziness, and bone health issues.

Services at a PKU clinic

There was a wide discrepancy in the services which UK adults received at their PKU appointments. This indicates that the anticipated EU Guideline recommendation on a standard level of care during each clinic visit is needed in the UK too.

Further, it appears that females had more detailed clinic review. One of the take home messages from the survey (see bottom slide) was that the care of women of reproductive age is prioritised over that for males.

Those surveyed reported the following frequency of services at clinic:

• 82% received a weight / height check
• 78% discussed their daily living with PKU
• 71% had a blood test on the day
• only 64% of respondents discussed their dietary intake during clinic, an odd outcome for a restricted diet therapy, while 41% reviewed their medications
• 49% discussed their wellbeing and quality of life
• Fewer than a third of respondents reported discussing neurocognitive, psychological, or psychiatric concerns.
  Blood phe monitoring at home

The survey provides further, convincing, evidence that an at-home blood phe monitoring machine is much needed. More than half of respondents rarely, or never, performed a test at home. This is likely linked to the alarming stat that only 32% of adults had been warned of the risk of high phe levels in adults.

Key findings which need attention

• Specialist care and education for adults needs development
• Co-existing medical issues were common
• Services do not meet those specified in the EU Guidelines
• Education of blood phe level risks and monitoring is needed.
• The care of women of reproductive age is prioritised over men
• Remote consultations do not appear to meet patient needs.

The care of women of reproductive age is prioritised over that for males.

Are you currently attending a PKU clinic?

Let me know if how you feel about PKU clinic care in the comments below.