The clinical features of familial chylomicronemia syndrome (FCS) may go unrecognized
Many patients experience long delays before receiving a diagnosis, and they suffer heavy burdens as a result12,14
Since FCS is a rare disease, some healthcare professionals may find its clinical features difficult to recognize and diagnose.12,14 A delayed diagnosis may lead to additional risks for those with the condition, including12,21,22,25:
- Recurrent episodes of acute pancreatitis
- Hospitalization including ICU stays
- Increased risk of mortality (5-8% in uncomplicated acute pancreatitis)
- Persistent organ failure
- Significant interference with patients’ lives, social relationships, and activities
Common physical features and complications of FCS
![](https://tgaware.com/wp-content/uploads/2024/04/acute-pancreatitis.jpg)
Acute pancreatitis
People with FCS have a 360-fold higher risk of acute pancreatitis than the general population.14 Acute pancreatitis is fatal in 5-8% of uncomplicated cases and as many as 30% of complicated cases. It is also associated with an increased risk of persistent organ failure, endocrine and exocrine pancreatic insufficiency, and type 3C diabetes mellitus.12,21,25, 49
![](https://tgaware.com/wp-content/uploads/2024/05/AbdominalPain.png)
Recurrent abdominal pain
People with FCS may experience single or recurrent episodes of generalized abdominal pain, which can be incapacitating.14
![](https://tgaware.com/wp-content/uploads/2024/05/Xanthoma.png)
Eruptive xanthoma
Transient eruptive cutaneous xanthomas affect some individuals with FCS and typically affect the trunk and extremities. Xanthomas are often not recognized or mistaken for other skin conditions.12
![](https://tgaware.com/wp-content/uploads/2024/04/hepatosplenomegaly.jpg)
Hepatosplenomegaly
Hepatomegaly, splenomegaly, or both occur in some people with FCS.12
Other symptoms reported by patients living with FCS12,22
physical symptoms | Cognitive symptoms |
---|---|
Generalized abdominal pain | Difficulty concentrating |
Bloating | Impaired judgment |
Asthenia | Brain fog |
Indigestion | Dementia |
Fatigue | Memory impairment |
Dyspnea | |
Failure to thrive | |
Lipemia retinalis | |
Nausea and vomiting |