What causes protein C and protein S disease?
Protein C deficiency is caused by alterations (mutations) in the PROC gene. The common form is caused by an alteration in one PROC gene. The severe form is caused by an alteration in both PROC genes. (For more information on this disorder, choose “protein C” as your search term in the Rare Disease Database.)
What causes elevated protein C?
Agewall et al suggested an increase in hepatic synthesis of protein C due to increased hepatic insulin resistance. Increased levels have been reported in patients with diabetes, hypertriglyceridaemia, and nephrotic syndrome, with the use of anabolic steroids, oral contraceptives, and alcohol, and with increasing age.
What diseases are caused by protein deficiency?
Kwashiorkor, its most severe form, is most commonly seen in children in developing countries.
- Edema.
- Fatty Liver.
- Skin, Hair and Nail Problems.
- Loss of Muscle Mass.
- Greater Risk of Bone Fractures.
- Stunted Growth in Children.
- Increased Severity of Infections.
- Greater Appetite and Calorie Intake.
What does C protein mean?
Protein C, also known as autoprothrombin IIA and blood coagulation factor XIX, is a zymogen, the activated form of which plays an important role in regulating anticoagulation, inflammation, and cell death and maintaining the permeability of blood vessel walls in humans and other animals.
Are you born with protein C deficiency?
Although very rare, there is a severe form that is present at birth (congenital) and can potentially cause widespread small clots in the body and life-threatening complications in infancy. Protein C deficiency is caused by alterations (mutations) in the PROC gene.
How do you know if you have a protein C deficiency?
Diagnosis. A blood test is the only way to identify protein C deficiency. Some factors, such as warfarin treatment, can also cause a temporary drop in protein C, so repeat testing may be necessary. For the most accurate results, wait for at least 14 days after using warfarin to receive testing.
What is protein C function?
Abstract. The protein C system provides important control of blood coagulation by regulating the activities of factor VIIIa (FVIIIa) and factor Va (FVa), cofactors in the activation of factor X and prothrombin, respectively.
What are two common diseases that result from protein deficiencies?
There are two main syndromes associated with protein deficiencies: Kwashiorkor and Marasmus.