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Diagnosis

Age of diagnosis varies

Diagnosis of the condition is usually made at birth or at least before the age of 10 and is usually through recognising the clinical symptoms of abdominal pain, pancreatitis, xanthoma, or through noticing that the blood is the typical creamy colour of someone who has very raised triglycerides.  Patients are increasingly having their diagnosis confirmed by a genetic test.

Occasionally the diagnosis can come after years of experiencing health difficulties but with no clue as to why, and for some women the diagnosis comes during pregnancy when the natural increase of triglyceride levels exacerbate already occurring high levels and are picked up in routine examinations.

However old you are when you are diagnosed coming to terms with the diagnosis may be difficult.

Diagnosed as an Adult: For adults it can be particularly hard as you may have lived a life time of choice which has now been very restricted. Many changes will need to be made in order to accommodate the new lifestyle.

The nature of the condition means that there is an accumulation of fat before symptoms can show.  This can make it difficult to ‘believe’ the diagnosis and make it more difficult to make the necessary adjustments.  As fat builds up in the blood stream it can lead to a ‘tipping point’ effect and an attack of pancreatitis or severe abdominal pain that can seemingly ‘come from nowhere’.

If you feel you have not experienced any ‘obvious’ symptoms you may be experiencing unacknowledged symptoms in terms of your energy levels and clarity of mind.

If you feel you are symptom-free be aware that over time your health could deteriorate and you may become more susceptible to abdominal pain or pancreatitis that you have a higher risk of developing diabetes type 2.  If you are a woman and become pregnant you may find that the pregnancy will need careful monitoring due to the natural increase of triglycerides in the third tremester (around six months).

Diagnosed as a child: If you were diagnosed as a child you may have  had a very healthy childhood with parents/caregivers who provided you with good food and many ‘normal’ opportunities,  Or you may have had a difficult childhood in which the challenge of keeping you well were for whatever reason, beyond the capability of you parents/caregivers.  Or you may have had an experience somewhere in between.  In whichever scenario, young adulthood can be a very difficult time as you step out on your own and are suddenly confronted with many experiences that are challenging to manage.