ESPKU Conference, Day 2 - Part 1

I woke up this morning still not believing that I was in Berlin! I went to breakfast and to my shock I was sitting there having a full English! The sausage is from Germany and tastes like sausage! It was amazing. 

Presentation of the European Guidelines

Speaker: Prof. Francjan J. Spronsen 

We then had our first talk about European guidelines for PKUs, it was very interesting.

They were explaining they had been writing up and researching guidelines for the last 2-3 years. The stronger the evidence they got, the higher the evidence mark they achieved and it would make the research more valid. The lowest mark is a D and the highest is A. The guidelines overall achieved a B mark. For such a rare disease that is a really good mark, we could never achieve an A because there just isn't a big enough sample sizes and PKU is so complex. 

They then discussed the key recommendations from the guide.

Key recommendations 

Initiation treatment 

- If children tested have a level higher than 360 then they need to be treated.

Life long treatment

- RECOMMEND TO ANY PATIENT WITH PKU, this is such a great thing as the question of whether PKU is 'diet for life' has always been ridiculous for me, as I always feel the full affects when I'm not following my diet properly.

- Research found when diet is discontinued thee are poor outcomes such as concentration problems.

- The report showed the was neurological complications when PKUs weren't diagnosed.

- Improvement in mood in adults when they go back on diet (quality of life)

- There no evidence that it is safe to stop diet.

Life long follow up 

- All adults should have life long support in specialised metabolic centre

Target Phe levels

- Up to the age of 12 the levels should be between 129 - 369

- 12 and older including adults 120 - 600

- There is very unclear evidence of what happens with Phe levels in adult and adolescents compared to what happens with children. 

Target Phe levels in pregnancies 

- should be 120-360

- if levels are kept low evidence shows that there are no affects on children, so there is no heart problems or IQ.

Nutritional follow up

- there should be an annual nutritional review for those on a restrictive low portion food

Bone density 

- Measure once when PKU's are 12, when BMD is abnormal the measurement should be repeated next year

- Evidence found that early treated PKU's had low bone density but still healthy range

Neurocogantive follow up

- The question was at the beginning should we be measuring it? The researched showed that it definitely should be tested.

- Evidence showed neurocogantive problems is the main outcome of PKU

- We should be measuing it at ages 12 and 18

- It should also be measured if parents, teachers or doctors are concerned about development.

Transition 

- All patients should be supported in a specialised metabolic centre. 

As I said earlier, the confirmation of this reports are very comforting to me especially, that it is diet for life, that there is no evidence to support it is safe to go off diet, so it gives me less excuses when I do cheat.