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Table 2 Path to FCS Diagnosis

From: The burden of familial chylomicronemia syndrome in Canadian patients

 

N (%)

Number of physicians seen for symptoms before FCS diagnosis, median (range)

4 (2–6)

Common reasons leading to diagnosis of FCS

 Symptoms that I later learned were due to FCS

18 (49)

 Family history of FCS

17 (46)

 Hospitalization(s) due to pancreatitis

15 (41)

 Abnormal lipid levels in routine bloodwork

7 (19)

 Colic and/or failure to thrive in infancy

2 (5)

 Development of unexplained hepatosplenomegaly

1 (3)

Family History of FCS

33 (89)

 Father

13 (35)

 Uncle

11 (30)

 Paternal Grandfather

10 (27)

Fasting triglyceride levels at diagnosis

 8.4- < 11.3 mmol/L

26 (70)

 11.3- < 14.1 mmol/L

10 (27)

 14.1- < 17 mmol/L

1 (3)

Physician specialty who made FCS diagnosis

 I don’t know

10 (27)

 Endocrinologist

10 (27)

 Pediatrician

6 (16)

 Pancreatologist

4 (11)

 Nephrologist

2 (5)

 Primary Care Physician

2 (5)

 Dermatologist

1 (3)

 Cardiologist

1 (3)

 Metabolic Specialist

1 (3)

Prior to being correctly diagnosed with FCS

 Patients with misdiagnoses

10 (27)

Most common misdiagnoses

 Acute pancreatitis of unknown cause

5 (50)

 Hypertriglyceridemia

4 (40)

 Food allergy

1 (10)