22 year old male died of a ruptured subclavian artery. Post mortem, pathologist sees abnormalities concerning for a connective tissue disorder and orders genetic testing which confirms Ehlers Danlos, Type IV, Vascular, which had been previously undiagnosed. 14 months earlier, the otherwise healthy patient had undergone bowel surgery for a suspected obstruction and was found to have a significant bowel wall hematoma that required resection. It is my understanding that this type of Ehlers Danlos can affect bowel mucosa. I am looking for a pathologist to review the pathology materials from the bowel resection. My preference is for a pathologist with an interest in gastrointestinal pathology (I know it is not an official subspecialty) and/or experience/background/interest in working with molecular genetics in diagnosing such diseases. I appreciate your time and consideration.
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Do you believe there might have been medical error?
While as an experienced GI pathologist practicing in a high volume academic center, I would consider and suggest this possibility in a 22 year old with an unexplained bowel hematoma, I would not expect someone in the community to think about it. EDS is under-recognized by physicians and most pathologists do not (knowingly) come across it during training. In addition, the pathologic features are not well described (case reports and small case series).
Do you believe there might have been causation (i.e. the medical error resulted in an injury)?
Suggesting and testing for ED at time of hematoma may have prevented the outcome. However, I am not completely confident of this statement as I am not a clinician and not sure what could have been done clinically to prevent ruptured subclavian artery (perhaps imaging?).
What makes you a good expert for this case?
I am a GI pathologist and have an interest in ED affecting the bowel. I have seen 1 confirmed case and 1 case where I suspect it could have been ED.
How often do you encounter cases similar to this one in your practice?
Very infrequently, which will be similar for all experts.
Do you believe there might have been medical error?
The presence of a hematoma with obstruction symptoms in the lower GI tract is not common in younger patients. The gross and microscopic examination of the resected bowel is important to differentiate different causes of acute lower GI bleeding or hematoma formation. Teamwork within the gastroenterologist and pathologist could diagnose 14 months ago Elher Danlos Type IV and extend the life of the patient.
Do you believe there might have been causation (i.e. the medical error resulted in an injury)?
Well, the smooth muscle malformation that produced the weakness of the GI tract vessels and causes GI bleeding or hematoma formation was present since born. As well as the smooth muscle malformation from his subclavian artery. But it might be some preventive recommendations and medicines that could help the patient to prevent a second bleeding event. EDS Type IV (vascular type) causes, commonly, early in life, GI complications, However, these patients have a short life due to their congenital malformation.
What makes you a good expert for this case?
Well, i am not, I never had a case similar to this case before, but also as I said, is not common to have a young kid with a bowel obstruction or bleeding and no inflammation. Is necessary to rule out Inflammatory bowel disease and other more common entities.
How often do you encounter cases similar to this one in your practice?
none, I work mostly with adult gi biopsies and large GI cancer, inflammatory bowel disease cases.
Do you believe there might have been medical error?
Depends on the actual pathology material available for histopathologic examination and the actual histopathologic changes present in such material. Otherwise, almost impossible to opine.
Do you believe there might have been causation (i.e. the medical error resulted in an injury)?
If the diagnosis of Ehlers Danlos, Type IV had been made during the bowel surgery, preventive measure could have been taken to prevent a vascular rupture.
What makes you a good expert for this case?
I am a Gastrointestinal Pathologist.
How often do you encounter cases similar to this one in your practice?
A very rare disease. Have never seen one.
Do you believe there might have been medical error?
Pathological evaluation of an intestinal specimen with hemorrhage or perforation usually includes assessment for possible etiologies. The intestinal pathology of vascular Ehler Danlos Syndrome (VEDS) is characterized by an attenuated muscularis propria varying in thickness, which is partially replaced by collagen fibrils. Diverticulum-like areas with protrusion of the mucosa through the muscularis propria are also present. If these features were present and reported, they may have prompted assessment for an underlying cause by the clinical team. It is not clear if the pertinent history was provided to the pathologist.
Do you believe there might have been causation (i.e. the medical error resulted in an injury)?
If the patient had been referred for genetic testing, the characteristic mutation may have been identified. The patient could have then been referred for vascular evaluation. This would not necessarily have prevented the terminal event.
What makes you a good expert for this case?
I have been a practicing GI pathologist for approximately 25 years. I received excellent training in GI pathology at the Massachusetts General Hospital where I encountered a broad range of pathologies.
How often do you encounter cases similar to this one in your practice?
Zero. I have been working at a tertiary cancer center and therefore have not encountered any cases of collagen disorders.
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