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Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful.It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. [2]
The disease is characterized by burning pain in the toes and soles of the feet, accompanied by foot redness, congestion, and edema; a few patients may have fever, palpitations, headache, and joint pain. In the 1987 epidemic in Hubei, 60.6% of patients had a common cold before the onset of erythromelalgia and 91.2% had pharyngitis. [13]
Edema may also be found in the cornea of the eye with glaucoma, severe conjunctivitis, keratitis, or after surgery. Affected people may perceive coloured haloes around bright lights. Edema surrounding the eyes is called periorbital edema (puffy eyes) . The periorbital tissues are most noticeably swollen immediately after waking, perhaps as a ...
When impaired vein function leads to significant symptoms such as oedema (swelling) or venous ulcer formation, the condition is referred to as chronic venous disease. [3] It is also known as chronic peripheral venous insufficiency and should not be confused with post-thrombotic syndrome , a separate condition caused by damage to the deep veins ...
Diabetes, for example, is the leading cause of new cases of blindness in those aged 20–74, with ocular manifestations such as diabetic retinopathy and macular edema affecting up to 80% of those who have had the disease for 15 years or more.
Image credits: cookedbutok #6. I'm in home healthcare. My whole job is to attend to my patients. I cannot tell you how many of my patient's family members have called my agency and complained ...
Cirrhosis, also known as liver cirrhosis or hepatic cirrhosis, chronic liver failure or chronic hepatic failure and end-stage liver disease, is an acute condition of the liver in which the normal functioning tissue, or parenchyma, is replaced with scar tissue and regenerative nodules as a result of chronic liver disease.
Both the familial type and Fish-eye disease are autosomal recessive disorders caused by mutations of the LCAT gene located on chromosome 16q22.1, which is the long (q) arm of chromosome 16 a position 22.1. [7] Both diseases are very rare with ~70 reported cases of familial LCAT deficiency [9] and ~30 cases of fish-eye disease. [10]