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MTHFR is the rate-limiting enzyme in the methyl cycle, which includes the conversion of homocysteine into methionine. Defects in variants of MTHFR can therefore lead to hyperhomocysteinemia. [9] There are two common variants of MTHFR deficiency. In the more significant of the two, the individual is homozygous for the 677T polymorphism.
If the impaired vein function causes significant symptoms, such as swelling and ulcer formation, it is referred to as chronic venous disease. [3] It is sometimes called chronic peripheral venous insufficiency and should not be confused with post-thrombotic syndrome in which the deep veins have been damaged by previous deep vein thrombosis .
The leg is swollen and red due to venous outflow obstruction. The most common conditions associated with thrombophilia are deep vein thrombosis (DVT) and pulmonary embolism (PE), which are referred to collectively as venous thromboembolism (VTE). DVT usually occurs in the legs, and is characterized by pain, swelling and redness of the limb.
If the person keeps standing still for longer, rather than restoring circulation in the leg muscles (e.g. by sitting down, walking, or cycling), the ammonia, produced by the amplified residual AMPD activity, may accumulate in the muscle cells and in the surrounding tissues to toxic levels, and may also indirectly affect other organs.
In advanced lipodermatosclerosis the proximal leg swells from chronic venous obstruction and the lower leg shrinks from chronic ulceration and fat necrosis resulting in the inverted coke bottle appearance of the lower leg. [7] Lipodermatosclerosis is most commonly diagnosed in middle-aged women. [3]
The fatal shooting of a student and a teacher at a private Christian school in Wisconsin on Monday was laden with shock, even for a nation dulled by the horror of repeated school massacres.
Audrey Fualaau, the daughter of controversial couple Mary Kay Letourneau and Vili Fualaau, is pregnant. Taking to social media, Audrey, 27, shared the news she was expecting her first child with ...
Other symptoms include skin ulcers, bluish skin, cold skin, or abnormal nail and hair growth in the affected leg. [3] Complications may include an infection or tissue death, which may require amputation; coronary artery disease; or stroke. [4] Up to 50% of people with PAD do not have symptoms. [2] The greatest risk factor for PAD is cigarette ...