Familial hypocalciuric hypercalcaemia

Synonyms: FHH

Material:

EDTA blood
(1 ml)

TAT:

3-6 weeks

Method:

NGS, CNV

Overview

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterised by elevated calcium levels in the blood and reduced calcium excretion in the urine. It is mainly caused by pathogenic variants in the CASR gene and, more rarely, in GNA11 and AP2S1. Although FHH is usually asymptomatic, symptoms such as fatigue and weakness may occur in rare cases. Specific treatment is generally not required; however, distinguishing FHH from other forms of hypercalcaemia, such as primary hyperparathyroidism, is essential.

Familial hypocalciuric hypercalcaemia

3 Gene(s)*

AP2S1

CASR

GNA11

Clinical description

Causes

Inheritance

Diagnosis

Differential diagnosis

References

Created by

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Last Update : 25.09.2026

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