Analysis Of Clinical Features In Multiple Endocrine Neoplasia Type 1 Related Primary Hyperparathyroidism

Objective: To analyze the clinical features of 12 patients with multiple endocrine neoplasia type 1(MEN1)related primary hyperparathyroidism(PHPT)and compare their clinical features with sporadic primary hyperparathyroidism(s PHPT).Methods: We enrolled 12 patients with MEN1-related PHPT who were admitted in our hospital from August 2012 to December 2019.Retrospective analyses were conducted on their clinical data,including general data,clinical manifestations,endocrine and biochemical indicators,imaging data and surgical and pathological results.Seventy-seven patients diagnosed with s PHPT in our hospital during the same period were selected as the control group to compare the differences in clinical features between the two groups.Results:(1)The prevalence of MEN1-related hyperparathyroidism(MEN1-related PHPT)was 100% in 12 MEN1 patients.There were 9 cases(75%)with urinary calculi and 3 cases(25%)with skeletal manifestations.Among the 7 patients,4(57.1%)had adenoma and 4(57.1%)had multiple lesions.(2)Compared with the s PHPT patients their age of onset(35.75 years old vs 51.19 years old)were younger(P<0.05),high Parathyroid hormone(PTH)and low serum albumin(ALB)levels were lower than those of the control group(all P<0.05),the incidence of bone pain was lower(8.3% vs 45.5%,P<0.05),the incidence of urinary calculi was higher(75%vs 23.4%,P=0.001),and the complete coincidence rate of 99mtc-sestamibi(MIBI)with pathological results was lower(57.1% vs 91.9%,P<0.05).The incidence of multiple lesions was higher than that of s PHPT patients(P<0.001).(3)The serum PTH level of MEN1-related PHPT patients was positively correlated with serum calcium,course,osteocalcin and tumor size(correlation coefficient r,respectively,was 0.635,0.582,0.618 and 0.720,all P<0.05).(4)Logistic regression analysis showed that PHPT patients with increased serum PTH ≤2 times [OR=6.784,95%CI(1.340,34.342),P=0.021],age of onset ≤30 years [OR=9.299,95%CI(1.374,62.943),P=0.022] were at higher risk for MEN1.(5)Two patients were tested for MEN1 gene,and all of them carried the pathogenic mutation of MEN1 gene,and one of them was familial men1-related PHPT.Conclusion: Compared with patients in the group sporadic PHPT,patients with MEN1-related PHPT have a younger onset age and a less abnormal biochemical level,in which the increased level of PTH was significantly lower than that of patients with sporadic PHPT.The clinical symptoms of MEN1-related PHPT patients were mild or insidious compared with sporadic patients,and were easily covered by other endocrine tumor symptoms,but the incidence of urinary calculi was higher than that of sporadic PHPT patients.Therefore,it is necessary to investigate MEN1-related PHPT in PHPT patients with mild biochemical abnormalities such as serum PTH,who also suffer from refractory urinary calculi.The study found that the age of onset≤30 years old,the increase of PTH ≤2 times were at higher risk for MEN1 in PHPT patients.Family history inquiry and MEN1 gene test are helpful for early diagnosis of MEN1.Therefore,early screening of the MEN1 gene is necessary in young(≤30 years old)PHPT patients with only mildly elevated PTH levels.