Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution

Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Status: Completed

Conditions: Familial Hypocalciuric Hypercalcemia

Treatments: Other: Observational study. No intervention is performed

Study type: Observational

Funder types: Other

Identifiers

NCT04872894

IIBSP-HCF-2020-89

Details and patient eligibility

About

Familial hypocalciuric hypercalcemia (FHH) is a rare disease (ORPHA#405, www.orpha.net) and most likely underdiagnosed, that clinicians should be aware of in the differential diagnosis of a hypercalcemia. Appropriate identification of the FHH has implications in treatment and also for the family, since it is an automosal-dominant disease, due to mostly a heterozygous loss-of-function mutation of the CASR (calcium-sensing receptor) gene, but also much less freqüent mutations of another two genes (AP2S1 and GNA11). In case of clinical and biochemical suspicion of FHH, a genetic evaluation is mandatory. Nevertheless, an important number of patients, the genetic study is negative. This observational study is intended to perform a descriptive review of cases with clinical and biochemical suspicion of FHH who underwent a genetic study in the usual clinical practice. Clinical, biochemical and radiological characteristics, treatment, follow-up and comorbidities of genotype-negative participants will be compared with genotype-positive cases.

Enrollment: 70 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients with clinical and biochemical suspicion of FHH who, at the discretion of the physician in routine clinical practice, were asked to perform a genetic evaluation of FHH and whose genetic results are available.

Exclusion criteria

• Genetic study of FHH is not available or was not performed despite clinical and biochemical suspicion of FHH.