Doctors discovered that two rare diseases—one affecting blood cells and one affecting the lungs—might be connected through shared genetic problems rather than just being a coincidence. A 64-year-old farmer was found to have both conditions at the same time. When scientists looked at his genes, they found three genes that were abnormal in ways that could cause both diseases. By reviewing similar cases from the past 22 years, researchers found this combination happens more often than expected, suggesting these diseases may share common genetic roots and immune system problems.

The Quick Take

  • What they studied: Whether having a rare blood disease (myelodysplastic syndrome) and a rare lung disease (pulmonary fibrosis) at the same time is just bad luck or if they’re connected through shared genetic problems.
  • Who participated: One 64-year-old male farmer with both conditions, plus a review of six similar cases found in medical literature over 22 years.
  • Key finding: The patient had abnormalities in three specific genes (MTHFR, PCSK9, and IFIH1) that are linked to both diseases, suggesting these conditions may share common genetic causes rather than occurring by chance.
  • What it means for you: If you or a family member has one of these rare diseases, doctors may want to check for the other condition. This research suggests these diseases might be connected, which could eventually lead to better ways to diagnose and treat them together. However, this is early research based on very few cases.

The Research Details

This research started with one patient—a 64-year-old farmer who had both a rare blood disease and a rare lung disease at the same time. Doctors performed genetic testing (whole-exome sequencing) to look at all of his genes and find any problems. They then searched through 22 years of medical literature to find other similar cases where patients had both diseases together. Finally, they analyzed whether the genes they found in their patient matched genes that other researchers had linked to these diseases.

Understanding whether two diseases are connected through shared genetic causes is important because it could change how doctors screen for and treat these conditions. If the diseases share common genetic roots, treating one condition might help the other, or doctors might be able to catch both diseases earlier.

This is a case report, which is the lowest level of scientific evidence. It’s based on just one patient, so the findings cannot be applied to everyone. The genetic findings are interesting but need to be confirmed in larger groups of patients. The literature review helps support the idea that this combination happens more than by chance, but more research with many more patients is needed before doctors can make strong recommendations.

What the Results Show

The patient had three genes with abnormalities: MTHFR, PCSK9, and IFIH1. These same three genes have been linked in previous research to both the blood disease and the lung disease. This suggests that instead of the patient just being unlucky to have two separate diseases, the diseases might actually be connected through shared genetic problems. When researchers looked back at medical records from the past 22 years, they found six other cases where patients had both diseases together, which is more often than would be expected by pure chance.

The research identified several possible connections between the two diseases: problems with immune cells (CD68+ cells and MPO-positive cells), a condition called VEXAS syndrome, telomere diseases (problems with the protective caps on chromosomes), and problems with folate metabolism (how the body uses B vitamins). These factors may all play a role in causing both diseases to develop in the same person.

This research builds on previous studies that have identified genetic links to both diseases separately. The new contribution is showing that these diseases may share common genetic pathways, which hasn’t been clearly demonstrated before. The finding that six similar cases exist in the literature over 22 years suggests this combination is not just random bad luck.

This study is based on only one patient, so the findings cannot be generalized to all people with these diseases. The genetic abnormalities found need to be confirmed in larger groups of patients. The research is also limited by the small number of similar cases found in the literature. Environmental factors (like the patient’s work as a farmer) may also play a role but weren’t fully explored. More research with many more patients is needed to confirm these findings.

The Bottom Line

This research is too early to make specific treatment recommendations. However, it suggests that doctors should consider screening patients with one of these rare diseases for the other condition. Patients with either disease should discuss genetic testing with their doctors. (Confidence level: Low—based on single case report)

People diagnosed with myelodysplastic syndrome or pulmonary fibrosis should be aware of this research. Family members of people with these diseases may also want to discuss genetic screening with their doctors. This research is less relevant for people without these rare conditions, though it may interest those with a family history of blood or lung diseases.

This is very early research, so it will likely take several years before doctors can use these findings to change how they diagnose or treat patients. Genetic testing could potentially be offered within the next few years, but treatment changes would take longer to develop and test.

Want to Apply This Research?

  • If you have either condition, track any new symptoms related to the other disease (such as shortness of breath if you have the blood disease, or unusual bleeding if you have the lung disease) and note when they occur.
  • Schedule regular check-ups with your doctor and discuss whether genetic testing or screening for the other condition would be appropriate for you. Keep detailed records of your symptoms and any family history of these diseases.
  • Set monthly reminders to review your symptom log with your healthcare provider. Track any changes in breathing, energy levels, or bleeding/bruising patterns. Share this information with your doctor to help identify any connections between your conditions.

This research is based on a single patient case and should not be used for self-diagnosis or self-treatment. If you have been diagnosed with myelodysplastic syndrome, pulmonary fibrosis, or both conditions, discuss this research with your doctor. Genetic testing should only be performed under medical supervision. This information is educational and does not replace professional medical advice. Always consult with a qualified healthcare provider before making any changes to your medical care or treatment plan.