Clinicians can be fairly sure of Creutzfeldt-Jakob diagnosis
DEAR DR. ROACH: In a recent column a reader said their daughter was diagnosed with Creutzfeldt-Jakob disease. My late first wife was diagnosed with Alzheimer’s disease in 1982.
After learning she was only 35 years of age, the doctor said that it was probably Creutzfeldt-Jakob disease, without explaining why.
When she did die years later, CJD was listed on her death certificate as the cause of death. But I’ve read or heard that neither Alzheimer’s disease nor Creutzfeldt-Jakob disease cannot be diagnosed without an autopsy, which she did not have.
My son was diagnosed by a neurologist in 2011 with dementia, not CJD, at about the same age as his mother. At the moment, he is incapable of taking care of himself and is in a nursing home.
How can someone be diagnosed with Alzheimer’s or Creutzfeldt-Jakob disease without an autopsy? Thank you.
ANSWER: I am very sorry to hear about the neurologic disease in your family.
A definitive diagnosis of CJD requires a brain sample to be examined. However, clinicians can be fairly sure of the diagnosis when the patient meets a set of criteria after a careful exam — specifically, progressive dementia with muscle spasms; disturbances related to vision or the cerebellum, which is the part of the brain involved in control of muscular coordination, especially balance and rapid alternating movements; and other specific neurologic dysfunction.
Clinicians also look for specific abnormalities on MRI, EEG or spinal tap. Certain results make the diagnosis of CJD likely, as long as there is no other diagnosis to explain those findings.
Similarly, 100 per cent certainty of the diagnosis of Alzheimer’s disease requires a brain biopsy or postmortem examination, but again, the combination of specific findings on a history and physical exam can make the diagnosis of Alzheimer’s probable.
It’s estimated that an experienced clinician is over 90 per cent accurate compared with pathological examination. You can find out more on how to diagnose Alzheimer’s at www.alz.org/alzheimers_ disease_ diagnosis. asp.
A long period between diagnosis and death makes CJD less likely, since most die within 12 months of diagnosis.
Without knowing the specifics of your family member’s neurologic findings, I can’t comment on whether this is likely to be CJD. There are other causes of early dementia, such as frontotemporal dementia, dementia with Lewy bodies and multiple systems atrophy.
Your son’s neurologist should be able to tell you about his likely diagnosis, since dementia is a clinical finding, not a specific diagnosis.
DEAR DR. ROACH: When a person spends an inordinate amount of time (read: months to years) in constant high-stress, fight-or-flight mode, can the person’s system become so accustomed to it that he or she comes to almost “need” to be in that mode in order to function “properly”? (Such as in the case of caring for someone with chronic life-threatening illness.)
Or is that just a crazy concept? I can no longer mentally function when things are calm.
ANSWER: It’s not a crazy concept. Chronic stress affects us both mentally and physically.
When the stress is finally reduced, the effects on body and mind vary from person to person. I often see physical illness acutely, such as respiratory infections, reflecting the damage to the immune system.
Other physical systems, especially the gastrointestinal, can show abnormalities, with symptoms like diarrhea, constipation and abdominal discomfort.
Anxiety, depression and even post-traumatic stress disorder happen to people with long-term stress.
I have learned not to underestimate the stress on caregivers of the chronically ill.
The demands on time, empathy, energy and sleep take an immense toll.
I don’t have the answers, but the best advice I can give you is this: Take care of yourself; you can’t be an effective caregiver if you don’t. Get help from whomever you can, and don’t feel guilty for taking some time away.
Readers may email questions to To Your Good Health @med.cornell.edu.