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| '''For patient information click [[Hereditary elliptocytosis (patient information)|here]]'''
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| {{Infobox_Disease | | {{Infobox_Disease |
| | Name = Hereditary elliptocytosis | | | Name = Hereditary elliptocytosis |
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| | MeshID = | | | MeshID = |
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| {{SI}} | | {{Hereditary elliptocytosis}} |
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| | '''For patient information click [[Hereditary elliptocytosis (patient information)|here]]''' |
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| {{CMG}} | | {{CMG}} |
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| {{EH}} | | {{SK}} Elliptocytosis, hereditary |
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| ==Overview== | | ==[[Hereditary elliptocytosis overview|Overview]]== |
| '''Hereditary elliptocytosis''' is a blood disorder in which a large proportion of the sufferer's [[erythrocytes]] (i.e. red blood cells) are [[ellipse|elliptical]] rather than bi-[[concave]] disc-shaped. It is also known as ovalocytosis. The disorder predisposes to [[haemolytic anaemia]].
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| ==Historical perspective== | | ==[[Hereditary elliptocytosis historical perspective|Historical Perspective]]== |
| Elliptocytosis was first described in 1904, and was first recognised as a [[heredity|hereditary]] condition in 1932. More recently it has become clear that there is much genetic [[heterogeneity]] amongst sufferers, and the severity of the condition is highly variable.
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| ==Aetiology== | | ==[[Hereditary elliptocytosis classification|Classification]]== |
| The incidence of hereditary elliptocytosis is hard to determine, as many sufferers of the milder forms of the disorder are [[asymptomatic]] and their condition never comes to medical attention. Around 90% of those with this disorder are thought to fall into the asymptomatic population. It is estimated that its incidence is between 3 and 5 per 10,000 in the USA, and that those of African and Mediterranean descent are of higher risk. Some subtypes of hereditary elliptocytosis are significantly more prevalent in regions where [[malaria]] is [[Endemic (epidemiology)|endemic]]. For example, in equatorial Africa its incidence approaches 160 per 10,000, and in Malayan natives its incidence is over 15% (1500-2000 per 10,000). Being an almost wholly [[autosomal dominant]] disorder, there is no predilection towards either sex in hereditary elliptocytosis. The most important exception to this rule of autosomal dominant inheritance is for a subtype of hereditary elliptocytosis called [[hereditary pyropoikilocytosis]] (HPP). This condition is [[autosomal recessive]].
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| [[Image:Autosomal Dominant Pedigree Chart.svg|thumb|left|140px|Figure 1 - A pedigree showing the typical inheritance pattern of an [[autosomal dominant]] trait.]]
| | ==[[Hereditary elliptocytosis pathophysiology|Pathophysiology]]== |
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| There are a number of different subtypes of hereditary elliptocytosis. A clinically significant [[haemolytic anaemia]] occurs only in 5-10% of sufferers, with a strong bias towards those with more severe subtypes of the disorder. The following categorisation of the disorder demonstrates its heterogeneity (in approximate order from least severe to most severe)<ref>{{cite journal| author = Coetzer T, Lawler J, Prchal JT and Palek J| year=1987 |month=September |title =Molecular Determinants of Clinical Expression of Hereditary Elliptocytosis and Pyropoikilocytosis| journal = [[Blood (journal)|Blood]]| volume=70| issue=3| pages=491-588| url=http://www.bloodjournal.org/cgi/reprint/70/3/766.pdf| format=PDF| accessdate=2006-10-31}}</ref>:
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| *'''Common hereditary elliptocytosis'''
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| **With [[asymptomatic]] carrier status - ''the individual has no symptoms of disease and diagnosis is only able to be made on [[blood film]]''
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| **With mild disease - ''the individual has no symptoms and a mild and compensated haemolytic anaemia''
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| **With sporadic [[haemolysis]] - ''the individual has a predilection towards haemolysis in the presence of particular [[comorbidities]], including [[infection]]s, and [[Cyanocobalamin|vitamin B{{ssub|12}}]] deficiency''
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| **With [[neonate|neonatal]] [[poikilocytosis]] - ''during the first year of life'' only ''the individual has a symptomatic haemolytic anaemia with poikilocytosis''
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| **With [[chronic]] haemolysis - ''the individual has a moderate to severe symptomatic haemolytic anaemia (this subtype has variable [[penetrance]] in some [[Pedigree chart|pedigrees]])''
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| **With [[Zygosity|homozygosity]] or compound [[Zygosity|heterozygosity]] - ''depending on the exact mutations involved, the individual may lie anywhere in the spectrum between having a mild haemolytic anaemia and having a life-threatening haemolytic anaemia with symptoms mimicking those of HPP (see below)''
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| **With [[pyropoikilocytosis]] (HPP) - ''the individual is typically of African descent and has a life-threateningly severe haemolytic anaemia with micropoikilocytosis (small and misshapen erythrocytes) that is compounded by a marked instability of erythrocytes in even mildly elevated temperatures (pyropoikilocytosis is often found in burns victims and is the term is commonly used in reference to such people)
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| *'''Spherocytic elliptocytosis''' (also called '''hereditary haemolytic ovalocytosis''') - ''the individual is typically of European descent and both elliptocytes and spherocytes are simultaneously present in their blood''
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| *'''South-east Asian ovalocytosis''' (SAO) (also called '''stomatocytic elliptocytosis''') - ''the individual is of South-East Asian descent (typically Malaysian, Indonesian, Melanesian, New Guinean or Filipino, has a mild haemolytic anaemia, and has resistance to [[malaria]]''
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| ==Treatment== | | ==[[Hereditary elliptocytosis differential diagnosis|Differentiating Hereditary elliptocytosis from other Diseases]]== |
| 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.
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| | ==[[Hereditary elliptocytosis epidemiology and demographics|Epidemiology and Demographics]]== |
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| | ==[[Hereditary elliptocytosis risk factors|Risk Factors]]== |
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| | ==[[Hereditary elliptocytosis screening|Screening]]== |
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| | ==[[Hereditary elliptocytosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
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| [[Folate]] helps to reduce the extent of haemolysis in those with significant haemolysis due to hereditary elliptocytosis.
| | ==Diagnosis== |
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| Because the [[spleen]] is the bodily organ which breaks down old and worn-out blood cells, those individuals with more severe forms of hereditary elliptocytosis can have a [[splenomegaly]] which causes a worsening of the signs and symptoms of their anaemia. These can include:
| | [[Hereditary elliptocytosis diagnostic study of choice|Diagnostic Study of Choice]] | [[Hereditary elliptocytosis history and symptoms|History and Symptoms ]] | [[ Hereditary elliptocytosis physical examination|Physical Examination]] | [[Hereditary elliptocytosis laboratory findings|Laboratory Findings]] | [[Hereditary elliptocytosis electrocardiogram|Electrocardiogram]] | [[Hereditary elliptocytosis chest x ray|Chest X Ray]] | [[Hereditary elliptocytosis CT|CT]] | [[Hereditary elliptocytosis MRI|MRI]] | [[Hereditary elliptocytosis ultrasound|Ultrasound]] | [[Hereditary elliptocytosis other imaging findings|Other Imaging Findings]] | [[Hereditary elliptocytosis other diagnostic studies|Other Diagnostic Studies]] |
| *Vague, poorly localised abdominal pain
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| *Fatigue and [[dyspnoea]]
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| *Growth failure
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| *Leg ulcers
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| *[[Gallstones]].
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| 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 [[neonate]]s 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.
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| Because chronic haemolysis increases an individual's risk of gallstones, people with elliptocytosis have an increased risk of suffering from gallstones. This risk is relative to the severity of the disease, and those with symptomatic elliptocytosis should have regular abdominal [[ultrasounds]] to monitor the progression of their [[gall bladder]] disease.
| | ==Treatment== |
| | [[Hereditary elliptocytosis medical therapy|Medical Therapy]] | [[Hereditary elliptocytosis surgery |Surgery]] | [[Hereditary elliptocytosis primary prevention|Primary Prevention]] | [[Hereditary elliptocytosis secondary prevention|Secondary Prevention]] | [[Hereditary elliptocytosis cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Hereditary elliptocytosis future or investigational therapies|Future or Investigational Therapies]] |
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| ==Prognosis== | | ==Case Studies== |
| Those with hereditary elliptocytosis have a good [[prognosis]], only those with very severe disease have a shortened [[life expectancy]].
| | [[Hereditary elliptocytosis case study one|Case #1]] |
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| ==References==
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| {{reflist|2}}
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| {{Hematology}} | | {{Hematology}} |
| {{SIB}}
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| [[sr:Елиптоцитоза]] | | [[sr:Елиптоцитоза]] |
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| [[Category:Disease state]] | | [[Category:Disease]] |
| [[Category:Genetic disorders]]
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