If left unchecked, high fat levels can lead to recurrent abdominal pain and possibly life-threatening pancreatitis. Other symptoms described in the literature can include fat-filled yellow spots known as ‘eruptive xanthomas’, discolouration of small arteries and veins in the eye (lipaemia retinalis), and abnormal enlargement of the liver and/or spleen (hepatosplenomegaly). These are the symptoms described by the medical profession.
This is the most common symptom of LPLD. The pain can be mild, or severe and interfere with daily living. It is felt in the upper central region of the abdomen (the epigastric region) and can sometimes radiate to cause back pain. In extreme cases this can resemble peritonitis. There are reported cases of unnecessary surgery due to an incorrect diagnosis.
The pancreas is a small gland found behind the stomach responsible for secreting enzymes that help in digestion and hormones that supply different functions in the body. Acute pancreatitis happens when this gland inflames and causes pain, sometimes intense which is felt in the upper left side or middle of the abdomen. Other symptoms of pancreatitis are nausea, sweating, chills, weakness, clammy skin and mild yellowing of the skin or whites of the eyes (jaundice). .
Some individuals can develop acute, recurrent pancreatitis, or necrotising pancreatis (when the pancreas starts to destroy itself). Both can be potentially lethal but are fortunately rarely occuring.
Diabetes type 2
People with LPLD are at a greater risk of developing diabetes type 2, particularly if they have experienced or are experiencing repeated bouts of pancreatitis.
Other problems include a hardening of the pancreas due to the accumulation of calcium salts (pancreatic calcification) and stools containing an excess amount of fat so that they are frothy, foul smelling and to float (steatorrhoea). Patients describe being unable to control ‘the need to go’, finding that they have to manage journeys by knowing where the next toilet is located.
Secondary complications of pancreatitis don’t usually occur until middle age.
Enlargement of the liver or spleen – hepatosplenomegaly
This can occur, especially in infants and young children. How much the organs are enlarged seems to relate to the amount of fat in the diet.
Also known as ‘fat spots’ these affect approximately 50% of patients with LPDL and are skin lesions made up of certain fats (lipids). They appear as raised, reddish-yellow bumps or nodules on the skin and are usually found on the buttocks, knee and outer arms. Usually they measure around 1mm but they can form clusters and grow together to form larger lesions. They are usually not painful or tender unless they are on an area of the body where they are constantly knocked or rubbed.
Eruptive xanthomas usually appear within a few days after triglyceride levels are increased (each patient will have their own ‘tipping point’). They may contain a greasy, yellowish substance and sometimes a milky fluid.
If triglyceride levels decrease xanthomas will disappear over the following weeks and months. Persistent xanthomas indicate that triglyceride levels are too high and dietary modification should be addressed.
Opthalmologists (eye specialist) can often spot raised triglycerides during eye checks. Raised triglycerides in the blood stream may make the small arteries (arterioles) and small veins (venules) in the outer parts of the retina and the back of the eyeball (fundus) appear pale pink. The changes do not affect vision and are reversible.
*This page has been created by drawing on the NORD report on Familial Lipoprotein LIpase Deficiency