Hemophilia A

Department of Pediatric Dentistry

Lutheran Medical Center

Date: 07/24/2009

Article title: Hemophilia A

Author(s): Leon W. Hoyer M.D.

Journal: New England Journal of Medicine

Volume (number): Vol 330 No 1

Month, Year: 1994

Major topic: Hemophilia

Minor topics:

Type of Article: Review of Literature

Main Purpose: Review of Everything Hemophilia A

Overview of method of research: Review of Literature

Findings:

Hemophilia has a history of being a very destructive disease, but modern therapies have significantly improved the quality of life and the lifespan of those affected. Basically, it is the absence of clotting factor VIII or having a plasma concentrate of less than .04ug per milliliter plasma. Treatment is much more than the simple prescription of factor VII concentrates. A dental examination with plans for appropriate care is recommended as an essential part of any hemophilia patient's treatment.

Key points/Summary :

• Incidence approaches 20 per 100,000 male births.
• Although and X-linked disorder, it is supposed that up to 1/3 of cases come from random deletions and are not inherited.
• The gene that codes for factor VIII is at the tip of the long arm of the X chromosome, which can be missing or mutated.
• Factor VIII circulates in a non-covalent bond with von WIllenbrand factor, which enhances synthesis of the factor.
• Factor VIII is essential for rapid cleavage of factor X--if you want more clotting science, read it.
• Clinically, it is essential to distinguish between severe presentations and mild or moderate, the later perhaps never having a bleeding episode outside of surgery or severe trauma.
• Diagnosis of hemophilia should be suspected anytime there is abnormal bleeding in male patients. The diagnosis is determined by laboratory testing (which you can read about in the article)
• The clinical hallmarks are joint and muscle hemorrhages, easy bruising and prolonged and potentially fatal hemorrhage post surgery or trauma; but no excessive bleeding after minor cuts and abrasions.
• Hemarthroses are usually first noted when a child is learning to walk, which quickly leads to limitation of motion and mild discomfort. Within hours, it becomes severe pain, joint swelling and cutaneous warmth.
• Untreated the disease process leads to hemophilic arthropathy and can lead to permanent disability.
• Bleeding can happen in other locations also including intramuscular hematomas and closed space bleeding can lead to nerve paralysis and or airway constriction.
• In the past, 25% of deaths were attributed to intracranial bleeds. AIDS would take over this high percentage of deaths during the years of tainted transfusion.
• Factor VIII plasma replacement can be achieved using human donated plasma or synthetically derived alternatives.
• Patients with some factor VIII production can benefit from Desmopressin.
• Today--1994 that is--parents can use genetic testing and amniocentesis to determine the likelihood of transmission from mother to son.
• Care is constantly improving and the article suggested that perhaps stem-cell therapy could ultimately be a cure for the disease.

Assessment of article: A great review. This article was too in-depth for our uses and it would be nice to see an update to this (which I'm sure could be researched) and see where treatment is today. This is an interesting and significant disease. If you can get through the hard science without burning out there is a lot of good relevant information.