DIAGNOSIS
There are four steps to determining whether or not you have porphyria:
- A detailed history (including family history) and physical examination are conducted first, with specific care given to sun-exposed skin.
- Measuring porphyrins and precursors in the urine, feces, and blood is necessary.
- Measurement of efficiency of individual enzymes in the heme production pathway, as well as DNA and mutational investigations, can be done in specialized labs.
- The efficiency of Uroporphyrinogen III, the fourth enzyme in the heme production footpath, will be significantly reduced in CEP.
TREATMENT
Guenther porphyria can be treated in a variety of methods. These are some of them:
Reduce your exposure to the sun. Several sunscreens, such as equatorial sunscreens, have been found to serve as a protection due to light-reflective ingredients such as zinc oxide and titanium dioxide.
Physical impediments. To protect patients with Gunther’s illness by blocking UV and visible light wavelengths. They should also wear protective gear to shield for sun protection.
Oral beta-carotene, activated charcoal and cholestyramine. Disrupt and prevent the resorption of porphyrins in the body. These oral therapies are unrealistic since they demand an unusually big quantity of medicine and are consequently ineffective.
Transfusions of erythrocytes. This is done to effectively measure in lowering erythropoiesis and circulating porphyrin levels to reduce the manifestation of the disorder.
Topical lubrication. This aids in the relief of dry eye symptoms and the improvement of vision. Surgery would be a more invasive technique to assist treat Gunther’s condition.
