Primary hyperparathyroidism in multiple endocrine neoplasia type 2A (MEN 2A) is often mild, asymptomatic, and is associated with both moderate and high-risk group variants based on the American Thyroid Association (ATA). This is according to a new study published in the journal Cancers.
“Likelihood of cure is high, but recurrence is not infrequent and can occur decades after surgery,” the study authors noted.
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There is a high divergence in frequency, disease definition, and reporting of clinical characteristics among studies about the incidence of primary hyperparathyroidism in MEN 2A.
Here, a team of researchers from Denmark conducted a nationwide population-based retrospective study using the 1930–2021 Danish MEN 2A cohort, which offers a representative frequency and complete reporting of primary hyperparathyroidism in MEN 2A.
The researchers reported that of the 204 MEN 2A cases, 16 (7.8%) had primary hyperparathyroidism. This is a lower frequency than cited previously, they said.
Age-related penetrance at 50 was 8%, which is also lower than previously cited.
Primary hyperparathyroidism was present in 62% of ATA-moderate and 38% of ATA-high-risk groups.
The median age of patients at the time of primary hyperparathyroidism diagnosis was 45, with 75% of them being asymptomatic. This is a higher age of diagnosis that is often cited, according to the researchers.
A total of 13 patients had parathyroid surgery, which cured 69% of them. In 8% of patients, the condition persisted, while in 23%, it recurred.
The differences in the frequency of primary hyperparathyroidism, age-related penetrance, and age at diagnosis between this study in which a clear definition of primary hyperparathyroidism is used with no selection bias, and the previous literature could be associated with the Danish RET p.Cys611Tyr founder effect, the researchers said.
MEN 2A and MEN 2B are associated with around 25% of medullary thyroid carcinoma (MTC) cases, a rare type of neuroendocrine tumor of the thyroid gland.
Reference
Holm M, Vestergaard P, Poulsen MM, et al. Primary hyperparathyroidism in multiple endocrine neoplasia type 2A in Denmark: a nationwide population-based retrospective study in Denmark 1930–2021. Cancers. Published online April 2, 2023. doi:10.3390/cancers15072125
