Hyperlipoproteinemia type 1 is a genetic disorder characterized by abnormal lipid (chylomicrons and high triglyceride lipids) breakdown which results in its accumulation in the blood. The disorder is caused by the reduced or absent activity of the enzyme lipoprotein lipase. The severity of the condition is determined by the degree of the deficiency and treatment. The disorder tends to run in families (familial).
The list of signs and symptoms mentioned in various sources for Hyperlipoproteinemia type 1 includes the symptoms listed below:
- Increased blood chylomicron level
- Abdominal pain
- Enlarged liver
- Enlarged spleen
- Yellow skin lumps
Buerger’s disease is caused by vasculitis, an inflammation of blood vessels, primarily of the hands and feet. The vessels become constricted or totally blocked, reducing blood flow to the tissues and resulting in pain and, eventually, damage. This disorder occurs in 6 of every 10,000 people. Incidence is highest among males ages 20 to 40 who have a history of smoking or chewing tobacco. It may be associated with a history of Raynaud’s disease and may occur in people with autoimmune disease.
In type I hyperlipoproteinemia, treatment requires long-term weight reduction, with fat intake restricted to less than 20 g/day. A 20- to 40-g/day medium-chain triglyceride diet may be ordered to supplement caloric intake. The patient should also avoid alcoholic beverages to decrease plasma triglycerides. The prognosis is good with treatment; without treatment, death can result from pancreatitis.