Familial chylomicronemia syndrome Disease
About Gene:
Familial chylomicronemia syndrome (FCS) is a rare genetic disorder estimated to affect 1-2 individuals per million. It is a serious disease characterized by persistent extreme hypertriglyceridemia as a result of the prevention of the body from breaking down fats consumed through the diet, or triglycerides. These triglycerides are carried in the blood by large structures called chylomicrons.
Number of Patients: 1
Sign and Symptoms:
- High levels of triglycerides in the blood
- lipemia retinalis
- Memory loss or “foggy-headedness”
- Severe pain in the abdomen often including back pain
- Acute or chronic pancreatitis
- Fatty deposits in the skin referred to as xanthomas
Diagnosis:
(1) Medical history collection (2) Physical examination (3) Different blood component tests (4) Coagulation factor test (5) Serum examination (6) Investigation of lipid profile (7) USG (8) Ophthalmoscopy (9) Hemoglobin test (10) Blood sugar analysis (11) Total white blood cell count (12) Investigation of liver and renal function
Preventions:
Can be prevented by effective identification of polygenic hypertriglyceridemia in people with conditions that increase its likelihood or before starting medications that may increase triglyceride levels.
Treatment:
Familial chylomicronemia syndrome (FCS) cannot be cured, but it can be managed. To manage FCS, doctors advise patients to avoid alcohol, eat a fat-free diet, limit sugar intake and simple carbohydrates (like those found in fruit, sodas, or candy), eat a healthy diet, eat small, frequent meals, take appropriate supplements (fatty acids, vitamins A, D, E, and K), take minerals and medium-chain triglycerides, avoid drugs known to increase triglyceride levels (these include diuretics, steroids, estrogens, high blood pressure medications, medications that suppress the immune system, antidepressants, some heart medications, and fish oil supplements).