Routine blood tests may be accessible, cost-effective tools in Huntington’s
Levels of blood markers, such as cholesterol, may predict disease progression
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Levels of certain blood markers that are tested as part of routine medical care, such as cholesterol and liver injury indicators, may help predict how fast Huntington’s disease progresses, a new study found.
According to the researchers, such routine blood tests “may help anticipating HD [Huntington’s disease] progression.” The results of such testing also “may be useful for patient follow-up in HD,” the team added.
Overall, the findings highlight “the potential utility of accessible and cost-effective tools for personalized medicine strategies in HD,” the researchers wrote.
The study, “Profiles of patients at early stages of Huntington’s disease based on the routine biological markers and the disease progression,” was published in the Journal of Neurology by a quintet of scientists in France.
Huntington’s is a progressive disease, meaning that symptoms start subtly and then get worse as time goes on. However, the rate at which the disease progresses can vary substantially from person to person.
Some of this variability can be explained by factors like age at onset and the length of an individual’s Huntington’s-causing mutation. Researchers are still working, however, to identify other factors that can help predict whether the disease will progress more quickly or more slowly in a given individual.
Now, a team led by researchers at PSL University outside Paris theorized that “identifying progression profiles during the early stages of the disease, before irreversible functional deterioration, may prompt therapeutic interventions aimed at delaying disability or mitigating symptom severity.”
Looking into blood tests used as part of routine healthcare
There are certain blood tests that are generally recommended for everyone as part of routine healthcare — things like checking levels of cholesterol, fat, and sugar, as well as the health of specific organs such as the liver and kidneys. The research team wanted to see if any of these routine tests might provide actionable insight into Huntington’s progression.
To do so, the scientists analyzed data from 227 adults with early-stage Huntington’s who underwent multiple clinical assessments of disease severity and routine blood tests over time.
For their analyses, the researchers relied on machine learning technologies. This is a type of artificial intelligence in which a large dataset is fed to a computer along with mathematical rules, called algorithms, that the computer uses to identify patterns in the data.
Based on standardized measures of disease severity over time, the researchers found that Huntington’s patients could be broadly split into three groups, representing those with slow, medium, or fast progression. Each of these groups tended to show characteristic patterns in blood marker tests.
Specifically, patients in the fast-progressing group showed the highest levels of fatty molecules called triglycerides and liver enzymes, which may indicate liver damage. This group also showed the highest counts of red blood cells and immune cells, potentially indicating more inflammation, and the highest body mass index, a ratio of weight to height commonly used as a proxy of body fat.
In contrast, these patients showed lower levels of a form of cholesterol called high-density lipoprotein, or HDL — also known as good cholesterol — relative to those in the other two groups.
“Although most patients in [the fast-progressing group] did not meet the diagnostic criteria for [abnormal fat levels] or liver disease, this pattern suggests a state of subclinical ‘metabolic–inflammatory stress’ that may accelerate HD progression,” the researchers wrote.
Patients in the medium group, meanwhile, had the highest HDL levels, the lowest levels of blood sugar (glucose), and lower levels of triglycerides, liver enzymes, and inflammatory markers.
The slow-progression group “presented the most complex pattern,” the researchers wrote, noting that these data were marked by the highest glucose levels, low HDL levels, and normal triglyceride levels.
These patients also had higher levels of thyroxine, a thyroid hormone, and creatinine, a marker of kidney damage. Additionally, individuals in this group had higher proportions of lymphocytes, a type of infection-fighting immune cell.
This type of profile for the slow-progression group suggested that “certain metabolic and immune interactions could have a modulatory or even compensatory effect in HD mutation carriers,” the team wrote.
More work needed to confirm, expand findings
Overall, the team noted that these findings are consistent with the idea that routinely-analyzed blood markers may provide useful information about Huntington’s progression patterns.
“This study relates possible metabolic, inflammatory, and [blood-related] comorbidities [simultaneous conditions] to disease [variability],” the researchers wrote, adding that “management of [bodywide] comorbidities could complement approaches targeting the central [disease mechanism].”
These data suggest that “routine biomarker use may help clinical management [among patients] and the design of therapeutic trials,” the team wrote.
The researchers called for further studies to validate and expand upon these findings, emphasizing that these analyses were not designed to tease out cause-and-effect relationships between factors like cholesterol levels and Huntington’s progression.
The scientists also highlighted that this analysis was limited to patients with early-stage Huntington’s, so it’s not clear if the findings apply to people in other stages of the disease.
