Vikesh Singh, MD, MSc: Dr Gelrud, what does the clinical presentation of FCS [familial chylomicronemia syndrome] encompass?
Andres Gelrud, MD: We see pancreatitis often in the GI [gastrointestinal] world. Pancreatitis can be the combination of severe pain for the patient resulting in visits to the emergency department and subsequent lab tests to confirm that their amylase and lipase levels are above 3 times the upper limit of normal. Imaging from tests often show that patients may have inflammation in the pancreas, indicating GI manifestation. But other presentations of this condition have a multitude of different manifestations.
For example, when you physically examine a patient in a clinic, even with a diagnosis of pancreatitis, you can see what is called an eruptive xanthoma, an accumulation of fat in the skin. If you do an eye exam, you can see a lipemia retinalis, which are deposits of fat in the eyes. The interesting thing is that they tend to regress as patients are treated. During a physical exam you might see hepatomegaly, an enlarged liver. Frequently patients also have splenomegaly. It’s because they develop these fatty livers that make the liver really big.
Patients also have many GI complaints. Frequently, we see chronic abdominal pain that is unrelated to pancreatitis. We don’t have any explanation of why this happened, and it can be challenging to treat. Of course, having excessive lipids in the blood can give the blood hyperviscosity.
When these patients get admitted [to a health care facility], they may have blood drawn, and it is very lipemic. That means that in the tube of blood you see a lot of milky-type of blood instead of the standard red color as the blood starts to sediment and differentiate.
Frequently, these patients have thrombocytopenia. This is [the result of] a whole milieu of signs and symptoms that we must think about. They may also have memory and neurological presentations for whatever reason. We think it’s related to hyperperfusion. Patients may also have some cognitive disorders. These patients can have brain fogginess, so they’re not thinking clearly. I have heard from my patients’ family members that they know an attack is about to happen because [the person] starts to think and act strangely.
As patients start treatment and their triglyceride levels go down, they start to clear up again. These are the most frequent clinical manifestations we find in a physical exam.
Vikesh Singh, MD, MSc: It’s important to emphasize that acute recurrent pancreatitis and abdominal pain are the primary clinical manifestations of FCS. Large studies of FCS patients—which are never that large because this is still a rare condition—have shown that up to 50% of patients will have acute pancreatitis at some point in their lifetime. Another 59% or 60% of patients will have abdominal pain for which they don’t seek medical attention. The burden of pain and pancreatitis is quite high in the FCS population.
Transcript Edited for Clarity