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Acanthocytosis

MedGen UID:
195801
Concept ID:
C0687751
Disease or Syndrome
Synonym: Red cell acanthocytosis
SNOMED CT: Spiny prickle cells present (250249008); Acanthocytosis (250249008)
 
HPO: HP:0001927
Orphanet: ORPHA98366

Definition

Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. [from HPO]

Term Hierarchy

Conditions with this feature

Abetalipoproteinaemia
MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia. Malabsorption of fat-soluble vitamins (A, D, E, and K) can result in an increased international normalized ratio (INR). Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood. Neuromuscular findings in untreated individuals including progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle weakness; dysarthria; and ataxia typically manifest in the first or second decades of life.
Pigmentary pallidal degeneration
MedGen UID:
6708
Concept ID:
C0018523
Disease or Syndrome
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.
Chorea-acanthocytosis
MedGen UID:
98277
Concept ID:
C0393576
Disease or Syndrome
Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some individuals present with parkinsonism. Dystonia is common and affects the oral region and especially the tongue, causing dysarthria and serious dysphagia with resultant weight loss. Habitual tongue and lip biting are characteristic, as well as tongue protrusion dystonia. Progressive cognitive and behavioral changes resemble those in a frontal lobe syndrome. Seizures are observed in almost half of affected individuals and can be the initial manifestation. Myopathy results in progressive distal muscle wasting and weakness. Mean age of onset in ChAc is about 30 years, although ChAc can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years.
McLeod neuroacanthocytosis syndrome
MedGen UID:
140765
Concept ID:
C0398568
Disease or Syndrome
McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males: CNS manifestations are a neurodegenerative basal ganglia disease including movement disorders, cognitive alterations, and psychiatric symptoms. Neuromuscular manifestations include a (mostly subclinical) sensorimotor axonopathy and muscle weakness or atrophy of different degrees. Cardiac manifestations include dilated cardiomyopathy, atrial fibrillation, and tachyarrhythmia. Hematologically, MLS is defined as a specific blood group phenotype (named after the first proband, Hugh McLeod) that results from absent expression of the Kx erythrocyte antigen and weakened expression of Kell blood group antigens. The hematologic manifestations are red blood cell acanthocytosis and compensated hemolysis. Alloantibodies in the Kell and Kx blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in affected male newborns of Kell-negative mothers. Females heterozygous for XK pathogenic variants have mosaicism for the Kell and Kx blood group antigens. Although they usually lack CNS and neuromuscular manifestations, some heterozygous females may develop clinical manifestations including chorea or late-onset cognitive decline.
Autosomal recessive congenital ichthyosis 5
MedGen UID:
347628
Concept ID:
C1858133
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).
Hereditary spherocytosis type 2
MedGen UID:
436112
Concept ID:
C2674219
Disease or Syndrome
People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities.\n\nThere are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.\n\nHereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
MedGen UID:
763703
Concept ID:
C3550789
Disease or Syndrome
GATA1-related cytopenia is characterized by thrombocytopenia and/or anemia ranging from mild to severe. One or more of the following may also be present: platelet dysfunction, mild ß-thalassemia, neutropenia, and congenital erythropoietic porphyria (CEP) in males. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising and mucosal bleeding (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are life long; at the milder end, anemia and the risk for bleeding may decrease spontaneously with age. Heterozygous females may have mild-to-moderate symptoms such as menorrhagia.
Dehydrated hereditary stomatocytosis 2
MedGen UID:
908701
Concept ID:
C4225242
Disease or Syndrome
In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015). For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (194380).
Developmental and epileptic encephalopathy, 50
MedGen UID:
904125
Concept ID:
C4225320
Disease or Syndrome
Developmental and epileptic encephalopathy-50 (DEE50) is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset refractory seizures, severe developmental regression, and normocytic anemia. Onset is within the first months or years of life. Evidence suggests that affected children can have a favorable response to treatment with uridine (summary by Koch et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350.
Familial hypobetalipoproteinemia 1
MedGen UID:
1639219
Concept ID:
C4551990
Disease or Syndrome
Individuals with biallelic APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may present from infancy through to adulthood with a range of clinical symptoms including deficiency of fat-soluble vitamins and gastrointestinal and neurologic dysfunction. Affected individuals typically have plasma total cholesterol, LDL cholesterol, and apo B levels below the fifth centile for age and sex. Acanthocytosis, elevated liver enzymes, and hyperbilirubinemia may also be found. The most common clinical findings are hepatomegaly, steatorrhea, and failure to thrive / growth deficiency. In the absence of treatment, affected individuals can develop atypical pigmentation of the retina; progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle pain or weakness; dysarthria; ataxia; tremors; and steatohepatitis, fibrosis, and rarely, cirrhosis of the liver. Individuals with a heterozygous, typically truncating pathogenic variant in APOB are usually asymptomatic with mild liver dysfunction and hepatic steatosis. However, about 5%-10% of individuals with heterozygous APOB-FHBL develop relatively more severe nonalcoholic steatohepatitis requiring medical attention and occasionally progressing to cirrhosis, albeit very rarely.
Arthrogryposis multiplex congenita 5
MedGen UID:
1731112
Concept ID:
C5436453
Disease or Syndrome
Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disorder characterized by severe joint contractures apparent at birth. Affected individuals usually have hypertonia and abnormal movements suggestive of dystonia, as well as feeding and/or breathing difficulties. More variable features may include poor overall growth, strabismus, dysmorphic facies, and global developmental delay with impaired speech (summary by Kariminejad et al., 2017).

Professional guidelines

PubMed

Takahashi M, Okazaki H, Ohashi K, Ogura M, Ishibashi S, Okazaki S, Hirayama S, Hori M, Matsuki K, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Oct 1;28(10):1009-1019. Epub 2021 May 16 doi: 10.5551/jat.RV17056. PMID: 33994405Free PMC Article
Liu Y, Liu ZY, Wan XH, Guo Y
Chin Med Sci J 2018 Mar 30;33(1):53-59. doi: 10.24920/21802. PMID: 29620515
Lee J, Hegele RA
J Inherit Metab Dis 2014 May;37(3):333-9. Epub 2013 Nov 28 doi: 10.1007/s10545-013-9665-4. PMID: 24288038

Recent clinical studies

Etiology

Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Walker RH, Jung HH, Danek A
Handb Clin Neurol 2011;100:141-51. doi: 10.1016/B978-0-444-52014-2.00007-0. PMID: 21496574
Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A
Neurology 2007 Jan 9;68(2):92-8. doi: 10.1212/01.wnl.0000250356.78092.cc. PMID: 17210889
Danek A, Walker RH
Curr Opin Neurol 2005 Aug;18(4):386-92. doi: 10.1097/01.wco.0000173464.01888.e9. PMID: 16003113
Stevenson VL, Hardie RJ
J Neurol 2001 Feb;248(2):87-94. doi: 10.1007/s004150170241. PMID: 11284140

Diagnosis

Rashid S, Malek N, Krommyda M
Pract Neurol 2024 May 29;24(3):223-225. doi: 10.1136/pn-2023-003981. PMID: 38290845
Liu Y, Liu ZY, Wan XH, Guo Y
Chin Med Sci J 2018 Mar 30;33(1):53-59. doi: 10.24920/21802. PMID: 29620515
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Schneider SA, Bhatia KP
Handb Clin Neurol 2011;100:101-12. doi: 10.1016/B978-0-444-52014-2.00005-7. PMID: 21496572
Danek A, Walker RH
Curr Opin Neurol 2005 Aug;18(4):386-92. doi: 10.1097/01.wco.0000173464.01888.e9. PMID: 16003113

Therapy

Legland Ép Dejean AM, Plantamura J, Arnoux I, Paleiron N, Loosveld M, Buono Ép Foucher B
Br J Haematol 2022 Apr;197(2):131. Epub 2022 Feb 7 doi: 10.1111/bjh.18020. PMID: 35128635
Liu Y, Liu ZY, Wan XH, Guo Y
Chin Med Sci J 2018 Mar 30;33(1):53-59. doi: 10.24920/21802. PMID: 29620515
Ortega MC, Skármeta NP, Diaz YJ
Cranio 2016 Sep;34(5):332-7. Epub 2016 Apr 11 doi: 10.1179/2151090315Y.0000000027. PMID: 26431448
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Orphanet J Rare Dis 2008 Jul 8;3:19. doi: 10.1186/1750-1172-3-19. PMID: 18611256Free PMC Article
Kay J, Stricker RB
South Med J 1983 Aug;76(8):1008-10. doi: 10.1097/00007611-198308000-00018. PMID: 6348960

Prognosis

Takahashi M, Okazaki H, Ohashi K, Ogura M, Ishibashi S, Okazaki S, Hirayama S, Hori M, Matsuki K, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Oct 1;28(10):1009-1019. Epub 2021 May 16 doi: 10.5551/jat.RV17056. PMID: 33994405Free PMC Article
Walker RH, Miranda M, Jung HH, Danek A
Parkinsonism Relat Disord 2019 Mar;60:158-161. Epub 2018 Sep 14 doi: 10.1016/j.parkreldis.2018.09.003. PMID: 30245172
Lee J, Hegele RA
J Inherit Metab Dis 2014 May;37(3):333-9. Epub 2013 Nov 28 doi: 10.1007/s10545-013-9665-4. PMID: 24288038
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A
Neurology 2007 Jan 9;68(2):92-8. doi: 10.1212/01.wnl.0000250356.78092.cc. PMID: 17210889

Clinical prediction guides

Miltenberger-Miltenyi G, Jones A, Tetlow AM, Conceição VA, Crary JF, Ditzel RM Jr, Farrell K, Nandakumar R, Barton B, Karp BI, Kirby A, Lett DJ, Mente K, Morgello S, Simon DK, Walker RH
Mov Disord 2023 Aug;38(8):1535-1541. Epub 2023 Jun 12 doi: 10.1002/mds.29445. PMID: 37307400
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Liu J, Heinsen H, Grinberg LT, Alho E, Amaro E Jr, Pasqualucci CA, Rüb U, den Dunnen W, Arzberger T, Schmitz C, Kiessling M, Bader B, Danek A
Parkinsonism Relat Disord 2018 Apr;49:54-59. Epub 2018 Jan 10 doi: 10.1016/j.parkreldis.2018.01.009. PMID: 29402698
Kobal J, Dobson-Stone C, Danek A, Fidler V, Zvan B, Zaletel M
Acta Clin Croat 2014 Mar;53(1):107-12. PMID: 24974674
Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A
Neurology 2007 Jan 9;68(2):92-8. doi: 10.1212/01.wnl.0000250356.78092.cc. PMID: 17210889

Recent systematic reviews

Quintas S, Sanles-Falagan R, Berbís MÁ
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Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A
J Huntingtons Dis 2017;6(1):37-46. doi: 10.3233/JHD-160232. PMID: 28339400

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