Pioneering a Way to Distinguish Blood Disorders From Child Abuse

by Gretchen Gavett

Feb. 21, 2012, 3:16 p.m.

 

Last year, as part of our ongoing investigation into the troubled state of death investigation in America, PBS “Frontline,” ProPublica and NPR took a closer look at what can be the most troubling and difficult cases — suspicious deaths of young children.

We discovered a growing awareness in the medical community of a variety of diseases that can mimic the symptoms of child abuse, including hereditary blood disorders, leukemia and vitamin K deficiency.

One doctor we spoke to — Dr. Michael Laposata, a pathologist and blood-clotting expert at Vanderbilt University who co-published a 2005 study on diseases that can mimic abuse — is pioneering a new blood testing regimen to rule out these types of disorders.

“If you’re lucky, most places … do the three routine tests: PT, PTT [both blood-clotting tests] and a platelet count, and that’s it,” Dr. Laposata told FRONTLINE in a phone interview. “It turns out most of the kids that have a bleeding problem have something other than that.”

Laposata and his colleagues have devised a system to make blood testing as foolproof as possible for doctors in cases of potential abuse: They created a tiered series of blood tests, known as a “Non-Accidental Injury Coagulation Panel,” which can identify underlying disorders that are more common in children. The panel can be performed with a small amount of blood, which is key when the patient is a baby.

“I think it’s the most comprehensive evaluation for a bleeding disorder that anybody has put forth to date,” Laposata said.

The panel is expected to be introduced soon at Vanderbilt and Dr. Laposata hopes to study its efficacy and to follow cases through the system over the years.

Because blood tests like these can only be performed on living patients whose blood is still flowing, a gap remains in diagnosing underlying conditions from autopsies. Laposata hopes that advances in genome testing could someday help close it, allowing for hereditary disorders to be better identified.

He said he also hopes his coagulation panel “will spur doctors to invent similar panels to evaluate bone injuries and skin changes that are also misdiagnosed as child abuse.”

Laposata was one of a number of doctors and other experts to offer testimony during the appeals process of Ernie Lopez, a Texas man convicted in 2003 of sexually assaulting 6-month-old Isis Vas. Isis, who had bruising and bleeding in the brain and vagina, later died. Lopez was sentenced to 60 years in prison. After reviewing lab tests performed on Isis before her death, Laposata concluded that they contained “clear abnormalities” and suggested that Vas suffered from a bleeding disorder known as disseminated intravascular coagulation (DIC). He gave an affidavit in the case in 2010.

Last month, the Texas Criminal Court of Appeals voided Ernie Lopez’s conviction, saying Lopez received ineffective counsel because his attorneys did not adequately challenge the prosecution’s medical evidence. Potter County District Attorney Randall Sims says he will retry Lopez.

Take a look at Dr. Laposata’s PowerPoint presentation highlighting the difficulty in diagnosing abuse cases. On one side is a photo of a child with bruises from a bleeding disorder; on the other, a photo of a child who was abused.

“I’ve been looking at patients with bleeding problems for years, more than two decades,” he said. “And if you show me the two children with the bruises on their legs, I couldn’t tell you that that one is the bleeding disorder. I’d have to do the blood test to find out.”

Gretchen Gavett is a digital associate producer for Frontline. “The Child Cases,” our film on questionable convictions in child death cases, rebroadcasts tonight on PBS (check your local listings). You can also watch it anytime online.

 

 

Bleeding And Bruising Disorders Mistaken For Abuse

Michael Laposata, MD, PhD, is executive vice chair and director of the Division of Laboratory Medicine for the Department of Pathology at Vanderbilt University Medical Center. He also serves as medical director of Clinical Laboratories and chief of Pathology Services at Vanderbilt University Hospital.

He served previously as professor of Pathology at Harvard Medical School and is credited with establishing the Division of Laboratory Medicine at Massachusetts General Hospital, a program that rose to national prominence under his leadership.

Dr. Laposata earned his medical and graduate degrees from Johns Hopkins University and completed postdoctoral training and residency in laboratory medicine at Washington University and Barnes Hospital. He held a faculty position at the University of Pennsylvania before being recruited to Massachusetts General Hospital and Harvard Medical School.

His clinical expertise is in the field of blood coagulation, with special expertise in hypercoagulable states.

Boston Magazine included him in its annual list of Best Doctors for his clinical expertise with coagulation disorders. His research focuses on understanding the basis of fatty acid alterations in cystic fibrosis with the ultimate goal of identifying fatty acid replacement therapies.

Dr. Michael Lapasota Answers Experts Questions

Cases referred to can be followed at this link:

http://www.aacc.org/events/expert_access/2008/december/Documents/1208EA.pdf

Question: Your cases are very impressive. I believe that as laboratorians we think about bleeding disorders more readily than others. Is there a way to incorporate questions relating to easy bruising, family history of bleeding, etc. into the initial interviews with families suspected of child abuse? Do child protective service employees have any educational opportunities on this issue? Waco, TX Michael Laposata, MD, PhD : There is currently a need for an exhaustive list of questions related to easy bruising, family history of bleeding, etc. for interviews with family suspected of child abuse. As far as I know, no such list of questions exists. Your idea of an educational opportunity for child protective service employees is a good one. Can you think of how to make this happen with my support for providing you with a list of questions and potential educational sessions?

Question: I am a Biochemist (PhD) graduated from Vanderbilt Univ (1969). In cases to Rule/Out child abuse can any muscle enzymes [such as CK-MM]be determined in blood to check if muscle damage has occurred because of trauma cause by hitting ?. Or, are coagulopaties the main criteria to R/O physical abuses in a child ? Laguna Niguel, California Michael Laposata, MD, PhD : Common presentations for child abuse include bleeding and bruising, broken bones, and skin changes. In the child abused with trauma to the skeletal muscle, it would be expected that an elevation of muscle enzyme values in the blood would be observed. This information would be informative but the use of coagulation testing to assess the bruised and bleeding child would still be important.

Question: If there is already a social history of possible child abuse what criteria is in place for discerning appropriate laboratory test ordering to perhaps diagnose an underlying bleeding disorder? Millersville,Maryland Michael Laposata, MD, PhD : A history of previous child abuse would clearly diminish the likelihood that a bruised or bleeding child is suffering from coagulopathy. In such a case, the merits of coagulation testing would be uncertain. However, the cost of exhaustive testing in coagulation could reach $1,000, and the costs associated with a misdiagnosis would be much greater.

Question: case 1: (page 18 of presentation link above) how do you explain the absence of bruising on the grab site (significant force applied directly to carry the full body weight) if everything is to be explained by VWD? case 2: how do you explain the absence of a bruise on the scalp with an impact again if we are to explain everything with VWD? Comment: I do VWF panel on each suspected AHT case. However, teh presence of a medical condition does not and shodul not automatically rule out abuse. Children with medical problems may also be abused. Thank you. iowa city, ia Michael Laposata, MD, PhD : You are exactly right. If the child had been grabbed and shaken, because she has a known diagnosis of von Willebrand disease, she would have surely suffered bruises. The absence of bruises associated with an alleged grab site tells me that the child was not grabbed, but indeed fell through the father’s legs as reported by him. In case 2 (page 35 in presentation link above) there was a bruise on the scalp at the point of impact. I fully agree that children with medical problems may also be abused, particularly because of the challenge of providing care for them. This makes the job of evaluating such patients especially challenging.

Question: I run the biggest private lab in the state, and I don”t process coagulation factors (nor any other lab, private or public, in the state), is there a cheap way to do them (because of a low demand of these particular tests)? Tampico, Tamaulipas, Mexico Michael Laposata, MD, PhD : It is true, that the coagulation tests beyond the simplest ones are not inexpensive. The actual cost to perform a test such as a coagulation factor study is on the order of $20 to $30. However, laboratories can charge much more than that for performance of the tests. I would recommend shopping for a best price from a reliable laboratory.

Question: Wonderful presentation Dr. Laposata. Will add to my reference list. Please see my URL (below)on NAI and mimics. http://www.stanford.edu/~pbarnes/ Stanford California Michael Laposata, MD, PhD : Thank you for the compliment and the URL.

Question: Did any of the children in your presentation had the triad: diffuse brain hypoxic injury AND SDH AND RH? Tacoma WA Michael Laposata, MD, PhD : None of the cases in this presentation had the triad you described. The children as far as I know did not have diffuse brain hypoxia.

Question: If the child undergoes a procedure while in ICU such as tracheostomy placement without any bleeding complications, does that exclude any bleeding problems? Tacoma WA Michael Laposata, MD, PhD : The lack of bleeding from a surgical procedure greatly reduces the likelihood of a coagulopathy. However, tracheostomy placement is a minor procedure, and this minor challenge to hemostasis may not reveal a coagulopathy, especially one associated with delayed bleeding.

Question: if the child presents with the triad: diffuse brain hypoxia, SDH and RH and all of your lab tests come back negative, what is your opinion on the role of shaking in child abuse without an impact? Tacoma WA Michael Laposata, MD, PhD : The issue in your question relates to “all the tests.” Many healthcare providers think they have done all the coagulation tests that would be informative, when in reality this is rarely the case. An exhaustive coagulation evaluation may cost $1000, which is minor compared to all the other costs associated with such a case.

Question: What is your opinion on the relationship of SDH and diffuse hypoxic brain? Thank you. Tacoma WA Michael Laposata, MD, PhD : I don’t have a well formed opinion about the relationship between SDH and diffuse hypoxic brain, but I have a few thoughts. First, the size of the SDH is likely to be important in the extent of the hypoxia to the brain. Second, there are most likely many factors contributing to hypoxia in the patient with SDH besides the bleed itself. Third, the relationship between SDH and brain hypoxia does not influence the approach to the potential victim of child abuse with regard to coagulation testing.

Question: I am curious about how you arrived at your estimate of 1% of children reported to CPS having von Willebrrand”s disease. Is this number from a published study (and if so, could you provide the citation), or is it an estimate based on the prevalence of von Willebrand”s in the population as a whole? Baltimore, MD Michael Laposata, MD, PhD : The criteria for von Willebrand disease are still evolving. In well respected review articles (try a search of Blood for a review on the topic), there are statements suggesting that up to 1% of individuals may have von Willebrand disease. Patients with type O blood have only 75% of the von Willebrand factor relative to the mean of normal when all blood types are taken together. A small decrease for type O patients in the von Willebrand factor level may result in a level that permits minor bleeding. That is the basis for my top estimate that 1 % of the bleeding and bruised children considered as potential victims of child abuse may be misdiagnosed. Source: http://www.aacc.org/events/expert_access/2008/december/Pages/1208qa.aspx