Benefit of diverse surgical approach on short-term outcomes of MEN1-related hyperparathyroidism

Abstract

Surgical excision is the preferred treatment for multiple endocrine neoplasia type 1 (MEN1)-related primary hyperparathyroidism (PHPT), although controversy regarding the surgical strategy exists. We retrospectively investigated the short-term outcomes of PHPT by various surgical extents. Thirtythree patients who underwent parathyroidectomy due to MEN1-related PHPT at Yonsei Severance Hospital between 2005 and 2018 were included (age [mean ± SD], 43.4 ± 14.1 [range, 23-81] years). Total parathyroidectomy with auto-transplantation to the forearm (TPX) was the most common surgical method (17/33), followed by less-than-subtotal parathyroidectomy (LPX; 12/33) and subtotal parathyroidectomy (SPX; 4/33). There was no postoperative persistent hyperparathyroidism. Recurrence was high in the LPX group without significance (1 in TPX, 2 in SPX, and 3 in LPX, p = 0.076). Permanent and transient hypoparathyroidism were more common in TPX (n = 6/17, 35.3%, p = 0.031; n = 4/17, 23.5%, p = 0.154, respectively). Parathyroid venous sampling (PVS) was introduced in 2013 for preoperative localisation of hyperparathyroidism at our hospital; nine among 19 patients operated on after 2013 underwent pre-parathyroidectomy PVS, with various surgical extents, and no permanent hypoparathyroidism (p = 0.033) or post-LPX recurrence was observed. Although TPX with autotransplantation is the standard surgery for MEN1-related PHPT, surgical extent individualisation is necessary, given the postoperative hypoparathyroidism rate of TPX and feasibility of PVS. Multiple endocrine neoplasia type 1 (MEN1) is a rare, hereditary, multiple endocrine tumour syndrome, mainly manifesting as primary hyperparathyroidism (PHPT) in 90% of patients 1. Surgical excision of the affected parathyroid glands is the treatment of choice for MEN1-related PHPT 2. The ultimate purpose of parathyroidectomy is to normalise serum calcium levels. However, the optimal extent of parathyroidectomy remains controversial, with most surgeons advocating for total parathyroidectomy (TPX) with heterotopic auto-transplantation or subtotal parathyroidectomy (SPX; 3-3.5 glands). Heterogeneity of the parathyroid glands in MEN1 patients has been widely investigated 3,4 , and the findings emphasise the need for individualised minimal surgery. Less-than-subtotal parathyroidectomy (LPX) has increasingly gained support for its lesser associated incidence of postoperative permanent hypoparathyroidism, which enables improved quality of life in selected patients 5,6. A precise preoperative localisation technique is crucial for successful LPX. Several studies have reported the efficacy of preoperative ultrasound(US), 99m Tc-MIBI SPECT/ CT (99m Tc-methoxyisobutylisonitrile single photon emission computed tomography/computed tomography), or 4-dimensional computed tomography (4DCT) for a targeted approach 1,5. Unlike the above mentioned preoperative localisation techniques, parathyroid venous sampling (PVS) is an invasive technique that has mainly been used in patients with ambiguous results on preoper...

Compound Heterozygous Variants of the CPAMD8 Gene Co-Segregating in Two Chinese Pedigrees With Pigment Dispersion Syndrome/Pigmentary Glaucoma

“…In agreement with the previous report, all alterations identified in our study of PDS/PG with milder phenotypes than ASD were missense variants. We also found patient II:4 (female) of pedigree 1 who had later-onset and milder PG phenotypes (PDS in the right eye and PG in the left eye) than her elder and younger affected brothers, indicating that the clinical phenotypes of genetic disorders were possibly influenced by other factors, such as gender, epigenetic changes, and environmental exposure ( Yan et al, 2010 ; Sarkar et al, 2014 ; Choi et al, 2020 ).…”

Update on the clinical management of multiple endocrine neoplasia type 1

“…In recent years it has been debated if for young people with MEN1-related pHPT, a stepwise approach to parathyroid surgery should be offered in the form of unilateral clearance (resection of all parathyroids and cervical thymus on one side) as initial operation. [38][39][40][41] The rationale for considering this in those with unilateral disease on preoperative imaging, is to provide several years of eucalcemia allowing to accumulate peak bone mass, while not being subjected to the risk of hypoparathyroidism. Others are fiercely opposed such an approach, due to unacceptable failure rates.…”

Hereditary Primary Hyperparathyroidism

“…3 However, the timing and extent of surgery is debated, balancing the risks of persistent/recurrent PHPT with those of permanent hypoparathyroidism. 33 Most centers advocate subtotal parathyroidectomy of at least 3.5 glands, which is associated with a reduced risk of permanent hypoparathyroidism (compared with total parathyroidectomy with auto-transplantation) but lower persistence/recurrence rates than lesser surgical approaches. 3,33,34 For example, the removal of <3 glands is reported to be associated with persistence/recurrence rates of 15%-70%.…”