Familial Hypocalciuric Hypercalcemia
Conditions
Keywords
hypercalcemia, Familial Benign Hypercalcemia, Familial hypocalciuric hypercalcemia
Brief summary
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.
Interventions
OTHERObservational study. No intervention is performed
Descriptive study in participants with clinical and biochemical suspicion of FHH. Comparison between genotype-negative and genotype-positive participants with clinical and biochemical suspicion of FHH.
Sponsors
Hospital Clinic of Barcelona
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Age (years) | 1 year | Clinical characteristics of genotype-negative and genotype-positive participants with biochemical suspicion of FHH |
| Gender distribution (%) | 1 year | Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH |
| Calcium levels (mg/dL) | Through study completion, an average of 1 year | Biochemical characteristics. Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH |
| Parathyroid Ultrasound results | 1 year | Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Treatment modalities used | 1 year | Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH |
| FHH associated comorbidities | Through study completion, an average of 1 year | Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH |
Countries
Spain
Outcome results
None listed