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Tag: parafibromin

Familial isolated hyperparathyroidism: Novel genes in the etiology of FIHP

It is unknown how many as yet unrecognized genotypes may also present as FIHP. Among 76 families initially consid­ered as FIHP in 5 recent clinical studies that investigated for germline MEN1, CASR and HRPT2 gene mutation, 53 families or nearly 70% have no currently recognized syndromic etiology (Table II). Others and we may still be […]

Familial isolated hyperparathyroidism: Diagnostic approach to FIHP kindreds

Based on the findings from our studies and others reviewed here, it is possible to offer a practical approach for managing patients and families with FIHP, for which an obvious syn­dromic etiology has been excluded. Sporadic cases of HPT, on the other hand, must be evaluated according to standard rec­ommendations. In the context of FIHP, […]

Familial isolated hyperparathyroidism: Testing directed at recognizing FHH

Testing directed at recognizing FHH among kindreds provisionally diagnosed with FIHP Several tests of affected individuals from provisionally diag­nosed FIHP kindreds have been utilized to exclude families that might have unrecognized or atypical FHH (Table II). These tests include blood testing of calcium, mag­nesium and PTH levels and determination of renal calcium and creatinine clearance. […]

Familial isolated hyperparathyroidism: Occult MEN1 among kindreds provisionally diagnosed with FIHP

Tests of affected individuals from provisionally diagnosed FIHP kindreds to identify occult MEN1 include blood testing of hor­mone levels, imaging studies and gene mutational analysis. Clinical studies of FIHP kindreds often utilize biochemical tests and/or pituitary or pancreatic imaging to explore for incomplete expressions of MEN1. Prior diagnosis of gastrinoma or pro- lactinoma in the […]

Familial isolated hyperparathyroidism

Figure 1 - The relationship as a Venn diagram

Introduction Familial isolated hyperparathyroidism (FIHP; HRPT1) is a diag­nostic subgroup of familial hyperparathyroidism (HPT) that can be non-syndromic or can result from the incomplete expression of a syndromic form of familial HPT (Fig. 1). Syndromic forms of familial HPT that can present as FIHP include multiple en­docrine neoplasia type 1 (MEN1), familial hypocalciuric hypercalcemia (FHH) […]