An Ode to Autopsy

In sickle cell anemia, a point mutation in the HBB gene replaces one amino acid with another, leading to the formation of abnormal hemoglobin and deformed red blood cells. When oxygen supply is low or demand is high, the abnormal hemoglobin clumps and causes irreversible damage to the red blood cell membrane. The result is acute pain episodes, kidney disease, gallstones, anemia, splenic atrophy, stroke, and lung disease. The many blood transfusions most sickle cell patients receive cause excess iron deposition in the body, particularly in the liver. But the mutation is not all bad; like many others, it was a product of evolution. The sickle cell gene is prevalent in areas of Africa hit hard by malaria. One mutated copy of HBB is protective against malaria – but two will cause sickle cell anemia.

Born with two mutated copies of HBB, James was diagnosed with sickle cell anemia and had a stroke at age five that led to ongoing behavioral challenges. He was prescribed hydroxyurea and folic acid to reduce the frequency of painful episodes. After the age of 26, he was no longer able to remain on his parents’ insurance plan and was therefore unable to afford his medication for three months. At the onset of winter, he developed upper respiratory tract symptoms and self-medicated with over-the-counter drugs. He felt better – but, a week later, he developed acute pain all over his body, which he rated as 10/10. His mother took him to the emergency department, where he was diagnosed with acute kidney injury. While medical management was underway, he coded multiple times and was pronounced deceased after several rounds of resuscitation. Because he had passed away within 24 hours of admission to the hospital, an autopsy was warranted by law and his mother agreed.

An autopsy is the final medical exam a patient receives – sometimes the only one. The ultimate purpose of an autopsy is to determine the cause and manner of death. In the early days of medical discovery, autopsy was the most useful way to learn about the anatomy and pathophysiology of diseases. Modern medicine owes a lot to early autopsies. In The House of God, an intern describes the value of autopsies in these words: “It’s hard to describe the importance of the autopsy. Why, the autopsy is the heart – no, the flower, the red rose – of medicine. Yes, the great Virchow, the Father of Pathology, performed twenty-five thousand autopsies with his own two hands. It’s crucial to our understanding of disease (1).” Autopsy, in summation, is the jewel in the crown of medicine.

An autopsy has performance and cognitive aspects. If you conduct an autopsy, you are supposed to write a report of your findings from the case after performing the dissection and a clinicopathological summary of the disease process affecting the patient. Once you’ve performed a few dozen autopsies, you realize that the cognitive element is actually the hard part. You discover many things when you start doing autopsies – for instance, the location of adrenal and parathyroid glands (they are not where textbooks say they are!). I am biased in saying this, but the joy of looking at a ruptured berry aneurysm or situs inversus with your own eyes is unsurpassed by any imaging modality. I learned about orthopnea and paroxysmal nocturnal dyspnea in heart failure patients in medical school. Still, the sight of lungs drowning in a “mini-lake” in the thorax of a heart failure case was a different level of educational experience. In my experience, there is no better way to understand the pathophysiology of a disease than a complete autopsy.

Outside the medical realm, an autopsy also serves as a means of closure. Losing a loved one is hard enough; not knowing why can keep the wound open for years. Autopsies tell us not only how someone died, but also how they lived. Before opening the body cavities, an external examination reveals any scars, tattoos, or marks on the patient’s body. These markings can tell you a lot about a person. Surgical scars on different parts of the abdomen can tell if the decedent had an appendectomy or a hysterectomy. Tattoos can include names, figures, or romantic associations and may reveal family, social, marital, or even criminal histories. Autopsies can also help in determining crimes committed against the decedent. Pathologists who perform autopsies are not only the decedent’s final doctor, but also their final advocate.

Death is a terrifying prospect for most people and western culture is notorious for stigmatizing anything having to do with death. Medical schools don’t emphasize the value of autopsies; the only exposure most medical students have to these procedures is through television shows – not well-known for their factual accuracy. The autopsy rate at most hospitals is less than five percent – so, for every 100 patients who die in the hospital, fewer than five get that close examination and the closure such a procedure brings. Efforts are even underway to eliminate the autopsy requirement from American hospitals that participate in Medicare – partly due to the dearth of medical examiners in the country and partly due to the devaluing of the autopsy in general.

But what of James? During his autopsy, we discovered a shrunken spleen, a liver full of iron pigment, lungs filled with blood, and kidneys with multiple scars and blood stasis in the glomeruli. It was hard for me to determine his cause of death. The suspects included evolution, genetics, societal failure to ensure health care for the needy, and acute kidney injury. I chose kidney injury because it was the easiest and most convenient way to give James and his family closure.

It’s not only families like James’ who benefit, though. The COVID-19 pandemic has spurred a recent increase in interest in autopsies due to our early lack of knowledge as to how the disease affects different organs and the demographics associated with severe disease and mortality. Autopsies on COVID-19 patients increased our understanding of the disease process and helped improve the management of future patients. Without these procedures, we would still be fumbling in the dark when dealing with this new threat. For this reason and many others, it’s essential that we expose medical students to autopsies and medical laboratories – and not just those interested in forensics or pathology, but every student who is interested in the practice of medicine.