This is in contrast to the rest of the population, in which it is common for up to 15% of erythrocytes to be elliptical.If some doubt remains regarding the diagnosis, definitive diagnosis can involve osmotic fragility testing, an autohaemolysis test, and direct protein assaying by gel electrophoresis. Treatment
The vast majority of those with hereditary elliptocytosis require no treatment whatsoever. They have a mildly increased risk of developing gallstones, which is treated surgically with a cholecystectomy if pain becomes problematic. This risk is relative to the severity of the disease.Folate helps to reduce the extent of haemolysis in those with significant haemolysis due to hereditary elliptocytosis.Because the spleen breaks down old and worn-out blood cells, those individuals with more severe forms of hereditary elliptocytosis can have splenomegaly. Symptoms of splenomegaly can include:
Vague, poorly localised abdominal pain
Fatigue and dyspnoea
Growth failure
Leg ulcers
Gallstones.Removal of the spleen (splenectomy) is effective in reducing the severity of these complications, but is associated with an increased risk of overwhelming bacterial septicaemia, and is only performed on those with significant complications. Because many neonates with severe elliptocytosis progress to have only a mild disease, and because this age group is particularly susceptible to pneumococcal infections, a splenectomy is only performed on those under 5 years old when it is absolutely necessary. Prognosis
Those with hereditary elliptocytosis have a good prognosis, only those with very severe disease have a shortened life expectancy.
Genetics
Lattice corneal dystrophy has three types:
type I: with no systemic association. It is caused by mutations in TGFBI gene encoding keratoepithelin, which maps to chromosome 5q. type II or Finnish type amyloidosis: associated with manifestations of systemic amyloidosis due to accumulation of gelsolin. Associated conditions may include cutis laxa and ataxia. type III is also described which has an onset at age 70 to 90 years and is not associated with systemic amyloidosis. Diagnosis
In the examination of biomicroscopy, it appears as branches spread on the corneal stroma in the appearance of ghost vessels. diagnosis can also be confirmed with anterior segment OCT (Visante OCT, spectral domain OCT).The interwoven linear opaque filaments have some resemblance to NERVES, but may not be observed in all affected members of families with the condition. Recurrent corneal erosions may precede the corneal opacities and even appear in individuals lacking recognizable stromal disease. Amyloid deposits are found throughout the corneal stroma. Linear and other shaped opaque areas accumulate particularly within the central corneal stroma, while the peripheral cornea remains relatively transparent. Treatment
In case of corneal erosion, a doctor may prescribe eye drops and ointments to reduce the friction on the eroded cornea. In some cases, an eye patch may be used to immobilize the eyelids. With effective care, these erosions usually heal within three to seven days, although occasional sensations of pain may occur for the next six-to-eight weeks.