When diagnosis is not enough

In an ideal world, diseases would be easy to diagnose, treatments would be 100% effective and harmless, patients would recover fully, and that would be the end of that. Unfortunately, the real world doesn’t deliver such simplicity on a plate, and doctors are constantly battling with far more complex variations of the diagnosis, treatment, and recovery cycle. This week the BMJ covers a range of permutations, from diseases that can be reliably diagnosed but are impossible to treat (doi:10.1136/bmj.f4752) to those that are difficult to diagnose and treat (doi:10.1136/bmj.f4827), and even those where the diagnosis itself can do more harm than good (doi:10.1136/bmj.f4312).

Qi and colleagues present the first report of probable person to person transmission of the novel avian influenza A (H7N9) virus. Both patients had confirmed H7N9 infection and died of multi-organ failure. Since the recent emergence of the virus in China, the main concern has been whether it could spread between people and cause the next pandemic. In their editorial (doi:10.1136/bmj.f4730), James W Rudge and Richard Coker acknowledge that human to human transmission is probable, but “does this imply that H7N9 has come one step closer towards adapting fully to humans? Probably not.” However, they caution that we must remain vigilant as “the threat posed by H7N9 has by no means passed.”

Thankfully, H7N9 infection is rare, and can be rapidly and reliably diagnosed. More commonly doctors are faced with scenarios where the diagnosis is anything but clear. In their Clinical Review, Jason Warren and colleagues unpick the tricky diagnosis of frontotemporal dementia. Although the condition is less common than Alzheimer’s disease, it is a major cause of young onset dementia—usually in the sixth decade of life, but it can start as early as the third. Presenting features include progressive aphasia, or a change in behaviour or personality, which is often misdiagnosed as psychiatric illness. Brain imaging (ideally magnetic resonance imaging) can confirm the diagnosis and exclude other conditions, such as brain tumours. Management is supportive, as no treatment has yet been shown to alter progression of the disease.

And then we come to the most perplexing challenge of all. What if making a diagnosis can itself harm rather than benefit patients? In a Head to Head debate (doi:10.1136/bmj.f4312), Felicity Callard and Pat Bracken argue that the “ways in which psychiatric diagnosis can disempower people with mental illness outweigh the ways in which diagnosis may have enabled them.” But Anthony David and Norman Sartorius retort that diagnosis “allows problems to be quantified and tracked over time and space” and “is the starting point to research into causes, consequences, and solutions…” “At the very least,” they say, ”diagnosis enables patients to see that they are not alone.”

On a lighter, more grammatical, note, I do hope my writing skills live up to the standards of James Owen Drife, whose column “The fight for good writing” (doi:10.1136/bmj.f4878) reminds us how to write proper(ly). “Even professional editors have irritating little quirks,” he says. That’s told me where to put my ifs, buts, and maybes.