Pancreatitis Risk in Primary Hyperparathyroidism: Relation to Mutations in the SPINK1 Trypsin Inhibitor (N34S) and the Cystic Fibrosis Gene

Abstract

Pancreatitis risk is approximately 10-fold elevated in pHPT, but pancreatitis occurs infrequently. This indicates an existing but minor impact of pHPT-related hypercalcemia. If pancreatitis occurs, it seems associated with genetic risk factors such as mutations in the SPINK1 and CFTR genes. In contrast, a combination of both hypercalcemia and genetic variants in SPINK1 or CFTR increases the risk to develop pancreatitis in patients with pHPT.

Recurrent acute pancreatitis: an approach to diagnosis and management

“…In a study of patients with primary hyperparathyroidism, 4 (16%) out of 25 patients with pancreatitis carried the N34S missense mutation in the SPINK1 gene, while all 50 controls (hyperparathyroidism without pancreatitis) showed no mutation in SPINK1 or PRSS1 genes (p<0.05 vs. controls, p<0.001 vs. general population). 56 In addition, CFTR gene mutations were present in 4 patients (p<0.05 vs. general population), while one patient carried a 5T allele. Treatment consists of parathyroidectomy.…”

Acute necrotizing pancreatitis: A rare presentation of sarcoidosis

“…SPINK 1 (serine protease InhibitorKazal type 1) and CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations, have also been implicated. 5 There are no standard guidelines for the treatment of pancreatic sarcoidosis, corticosteroids being the mainstay of therapy. The prognosis of the disease is variable and the recurrence rate of pancreatic sarcoidosis in severe symptomatic cases is almost 100% after discontinuing corticosteroids.…”

Primary Hyperparathyroidism due to Parathyroid adenoma presenting as recurrent acute pancreatitis

“…The diagnosis of hypercalcemia induced pancreatitis can be delayed if calcium levels are done during the episode of pancreatitis, as the calcium levels would be low during the attack. 3,10,11 Hence the presence of a normal or high serum calcium should prompt a repeat evaluation of calcium and parathyroid hormone levels after the recovery of pancreatitis to rule out primary hyperparathyroidism (PHPT) or an underlying malignancy. Ultrasonography or Technetium-99m Sestamibi scan is useful in localization of the parathyroid glands when planning for surgical treatment.…”