Expert Reviewed By: Dr. Brandon Colby MD
Acanthocytosis is a rare genetic disorder characterized by the presence of irregularly shaped red blood cells, specifically spiky or irregularly shaped cells called acanthocytes. This condition can lead to various health issues, including neurological disorders like chorea-acanthocytosis (ChAc) and Huntington's disease. Understanding the underlying causes, diagnosing the condition, and using genetic testing can help manage and treat the symptoms associated with acanthocytosis.
Understanding Acanthocytosis
Acanthocytosis can be associated with different genetic mutations and can manifest in various forms, such as ChAc and Huntington's disease. ChAc is a rare genetic cause of chorea, which is characterized by involuntary, rapid, and irregular movements. Studies have reported cases of two sisters with different expressions of ChAc, showing the variability of the condition.
ChAc can affect a person's quality of life, leading to issues like difficulty swallowing, speech problems, and a peculiar gait disorder called "stutter-step" observed in advanced cases of both Huntington's disease and ChAc. This gait disorder has been reported in a study and is characterized by short, rapid steps and a shuffling walk.
Diagnosing Acanthocytosis
Diagnosing acanthocytosis typically involves blood tests that can reveal the presence of acanthocytes in the blood. Additionally, other tests may be conducted to determine the specific genetic mutation causing the condition. For example, ChAc is caused by a mutation in the VPS13A gene, which can be identified through genetic testing.
It is essential to diagnose acanthocytosis early to manage the symptoms and prevent further complications. In some cases, treatment options like serotoninergic treatment have shown improvement in patients with ChAc, as reported in a case study.
Genetic Testing for Acanthocytosis
Genetic testing can be a valuable tool in understanding and managing acanthocytosis. It can help identify the specific genetic mutation causing the condition and provide information on the severity and progression of the disease. Genetic testing can also be helpful for family planning and determining the risk of passing the condition to future generations.
Identifying the Genetic Mutation
Genetic testing can identify the specific mutation causing acanthocytosis, such as the VPS13A gene mutation in ChAc. This information can help healthcare providers determine the best course of treatment and management for the patient. For example, a study has found that lithium treatment can reverse decreased store-operated Ca2+ entry (SOCE) and enhanced apoptosis in ChAc fibroblasts, potentially offering a therapeutic option for patients with this condition.
Family Planning and Risk Assessment
Genetic testing can provide valuable information for couples planning to have children, especially if one or both partners have a family history of acanthocytosis. By understanding the genetic risk, couples can make informed decisions about family planning and consider options like genetic counseling or in vitro fertilization with preimplantation genetic diagnosis (IVF-PGD) to minimize the risk of passing the condition to their children.
Monitoring Disease Progression
Regular genetic testing can help monitor the progression of acanthocytosis and inform healthcare providers of any changes in the patient's condition. This information can be useful in adjusting treatment plans and providing the best possible care for the patient.
In conclusion, understanding, diagnosing, and using genetic testing for acanthocytosis is crucial for managing the condition and improving the quality of life for those affected. By staying informed about the latest research and treatment options, patients and healthcare providers can work together to manage the symptoms and challenges associated with this rare genetic disorder.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)