Expert Reviewed By: Dr. Brandon Colby MD
Understanding Hereditary Persistence of Alpha-fetoprotein (HPAFP)
Hereditary Persistence of Alpha-fetoprotein (HPAFP) is a rare, benign autosomal dominant disorder characterized by elevated levels of alpha-fetoprotein (AFP) in the blood. AFP is a protein produced by the liver and yolk sac of a developing fetus. It is used as a biomarker for certain diseases, including liver cancer and testicular cancer, as well as neural tube defects during pregnancy. However, in some individuals, elevated AFP levels are not indicative of these diseases but are instead due to HPAFP.
Diagnosing HPAFP and the Importance of Genetic Testing
Diagnosing HPAFP can be challenging, as elevated AFP levels are often associated with various health conditions. In some cases, individuals with high AFP levels undergo unnecessary and potentially harmful procedures due to the misinterpretation of their condition. Genetic testing plays a crucial role in accurately diagnosing HPAFP and differentiating it from other diseases.
Case Studies Highlighting the Importance of Genetic Testing
Several case studies have been reported in the literature, emphasizing the significance of genetic testing in diagnosing HPAFP. One such case is that of a 15-year-old boy from Bangladesh with persistently elevated AFP levels. Genetic testing revealed that the boy had HPAFP, a benign condition that did not require any further intervention.
Another case involved a pregnant woman with elevated maternal serum AFP levels. The elevated AFP levels raised concerns for potential fetal abnormalities. However, genetic testing identified HPAFP as the cause of the elevated AFP levels, and the pregnancy proceeded without complications.
A study published in the Clinical Research Journal reported two individuals with elevated AFP levels harboring the −119G>A polymorphism in the AFP gene. This finding suggests that genetic screening should be considered in cases with unexplained persistent AFP levels.
Lastly, a case report discussed the importance of considering HPAFP in patients with high AFP levels to avoid harmful procedures. The patient in this case underwent multiple invasive tests and procedures before HPAFP was finally diagnosed through genetic testing.
Benefits of Genetic Testing for HPAFP
Genetic testing for HPAFP offers several benefits:
- Accurate diagnosis: Genetic testing can accurately identify HPAFP, differentiating it from other conditions associated with elevated AFP levels.
- Avoiding unnecessary procedures: By diagnosing HPAFP, individuals can avoid undergoing invasive and potentially harmful procedures that may be recommended based on elevated AFP levels.
- Family planning: Genetic testing can provide valuable information for family planning, as individuals with HPAFP may pass the condition on to their children.
- Improved patient care: Understanding the cause of elevated AFP levels enables healthcare providers to offer appropriate patient care and counseling.
Conclusion
Hereditary Persistence of Alpha-fetoprotein is a rare, benign condition that can be accurately diagnosed through genetic testing. By differentiating HPAFP from other conditions associated with elevated AFP levels, genetic testing can help avoid unnecessary procedures and improve patient care. As our understanding of HPAFP continues to grow, so does the importance of genetic testing in providing accurate diagnoses and guiding appropriate medical management.
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)