The Key to Understanding FTD
A brain autopsy is essential to obtain a definitive diagnosis of frontotemporal degeneration; however, the autopsy can be a difficult topic to face emotionally. It may not only help to resolve questions about diagnosis, but also offers family members a sense of closure. People who participate in a brain donation program should receive an autopsy report with pathology findings.
There are several important reasons why a family should consider arranging for a brain autopsy upon the death of their loved one.
- To get a definitive diagnosis. While a patient is alive, the clinician uses the tools that are available to him or her (physical exam, CT, MRI scans, etc) to make the most accurate diagnosis possible. However, it is only by actually looking at the affected brain tissue that a pathologist can be able to see exactly what occurred in specific portions of the brain and correlate with the clinical picture of FTD. The pathological diagnosis that results from the autopsy is the official diagnosis of that patient’s disease.
- To provide information for family members. Because some frontotemporal degeneration may be hereditary, the official diagnosis may have ramifications for the patient’s first-degree relatives. With this pathological diagnosis in hand, a genetic counselor can have a much more productive and informed discussion with the next of kin about the potential implications and risks for family members. Identification of a genetic mutation, if it exists, could become important for other family members, particularly if treatment becomes available in the future.
- To improve clinical diagnostic techniques for future patients. Pathologists need to study the actual tissue to understand the biochemical and molecular changes that have taken place in the brain cells. They can then correlate these pathological changes with the data that was gathered via clinical testing during life (such as the symptoms, MRI, CT scans and other tools available to the clinician). This entire process helps the clinician to do a better job of interpreting the information they gather from these tests-and give future patients more accurate diagnosis in a more timely manner. Accurate and timely diagnosis will become increasingly important as more effective therapies are developed for FTD.
- To better understand the disease process at work in FTD. It is only by increasing our basic understanding of what alteration affects the brain-and why-that researchers can design more targeted and effective therapies.
The complex nature of FTD’s symptoms and its devastation can leave families with many unanswered questions. Brain autopsy can provide a definitive pathological diagnosis and the latter may help family members to reach a closure after a long struggle. Brain autopsy is often done in conjunction with donation of the brain for scientific research, but is not limited to that context.
See – Participate in research
Autopsy vs. biopsy
Biopsy is the name given to the study of a small sample of cells or tissue from a living person. Biopsy is used to confirm the diagnosis of a disease, such as cancer, and to guide treatment. Brain biopsy is an invasive procedure with some risk to the patient. Because there is currently no treatment for FTD, at this time the risks outweigh the value and brain biopsy is rarely done with FTD patients.
Autopsy is the study of tissue removed from the body after death. Examination of the whole brain is important in understanding FTD because the patterns of tissue damage are different in the brain and particularly in the frontal and temporal lobes. Testing just a small sample of tissue from a single location would not be sufficient to reach a definitive diagnosis.
The Importance of Planning Ahead
AFTD Board member Colleen Quinn recalls that when her father died the family knew they wanted a brain autopsy, but hadn’t yet worked out the details. “On the day after he passed away I was on the phone with NIH, the funeral home, and Indiana University,” she recalls. “We ended up having to delay the funeral by a day.” She admits that, could she go back, she would have made all of the arrangements ahead of time.
Considering brain autopsy or donation can be a very delicate matter. It is helpful to begin the discussion early when it is possible to gather information and explore family members’ questions and wishes without undue emotional stress or time pressure. If the patient is enrolled in an FTD research study, brain donation and the center’s specific procedures typically will be discussed with participants soon after enrolling. Families who are not part of a research study will have to do some additional work to plan ahead. The following steps will guide the process, whether in a research study or not:
Make the decision
The first step is to make the decision to have an autopsy performed. It is strongly recommended that family members have this discussion sufficiently ahead of time to ensure your wishes are understood, paperwork is completed and all arrangements are made. Time is very important because the autopsy needs to be carried out as soon as possible after death (preferably within 6 hours) to get optimal results. This way, when your loved one does die you can focus on more important family issues.
Find and contact a pathology program.
There are many pathologists and medical centers that can confirm a diagnosis with autopsy including individual pathologists, hospitals, and medical schools. However, it is recommended that you contact a medical center or brain bank with experience in neurological disorders and, if at all possible, FTD specifically. You can ask your neurologist for a recommendation or refer to the list of FTD centers on this website. The National Institute of Neurological Disorders and Strokes also maintains a listing of brain banks on the research section of their website: www.ninds.nih.gov. Most of these programs are research-based, and the patient needs to be enrolled in the program ahead of time to qualify
It is important to ask about costs. Private pathologists, medical centers and funeral homes may charge for harvesting, transporting and examining the tissue. If autopsy is done within a research study, typically the family will not be charged.
Enroll in the program.
Each program has certain criteria for eligibility, which they can share with you. Most will require that you register with their program ahead of time to ensure that the patient meets their criteria. They will have forms for you to sign, and specific advice on how to make arrangements with a funeral home. Many programs have extremely helpful literature, and are happy to guide you through this process.
Carefully review and sign the forms for pre-arrangement of autopsy. Legal authorization for autopsy by the next of kin is necessary at the time of death. Because timeliness is so critical, some programs may keep your signed authorization on file and have an additional procedure for telephone authorization at the time of death.
Select a funeral home.
Coordination with the funeral home is important for a timely response when death occurs. It can also ease the burden on family members if arrangements are made ahead of time and your plans are clearly communicated. Select a funeral home ahead of time so you can ask questions and share your wishes. The autopsy will not delay the funeral and it will not disfigure the body, should you choose to have an open casket.
Inform the patient’s caregivers.
Once the forms are signed and arrangements are made, make sure your physician, the nursing home (if the patient is not at home), and the funeral home understand your wishes. Give them copies of the instructions and legal forms.
When the patient dies.
This planning process takes a bit of work ahead of time, but it ensures that upon the death of your loved one all of the relevant professionals can be in direct contact with each other and carry out your wishes efficiently.
Receiving the final report
Approximately 3-12 months after the autopsy is performed the family will receive a final report on the official diagnosis and what was learned through the autopsy. You will receive a formal written report that you can share with your own physician or with other family members. In research programs, the pathology results from the autopsy are correlated with medical records and clinical testing data during the patient’s illness for broader understanding of the medical picture.
Because of the complexity of the frontotemporal dementias, it is not unusual that the official pathological diagnosis may differ from the clinical diagnosis given during life. This can be disconcerting to families. You are encouraged to share the report with your neurologist for further clarification.