From the Research
Role of Genetic Testing in Diagnosing FHH
The role of genetic testing in diagnosing Familial Hypocalciuric Hypercalcemia (FHH) is crucial, as it helps identify the underlying genetic mutations responsible for the condition.
- Genetic testing can detect mutations in the calcium-sensing receptor (CaSR) gene, which is associated with FHH-type 1 1, 2, 3.
- It can also identify mutations in the adaptor-related protein complex 2 (AP2S1) gene, related to FHH-type 3, and the G-protein subunit alpha11 (GNA11) gene, associated with FHH-type 2 4, 2.
- The identification of a novel heterozygous variant in the CaSR gene, such as c.3166G>C (p.Val1056Leu), can support the diagnosis of FHH 1.
- Genetic testing is particularly useful in patients with atypical clinical presentations, where biochemical tests may be inconclusive 5.
- It can also help differentiate FHH from primary hyperparathyroidism (PHPT), which is essential for avoiding unnecessary surgery and excess monitoring costs 5, 3.
Importance of Genetic Testing in FHH Diagnosis
Genetic testing is essential for confirming the diagnosis of FHH, especially in cases where biochemical tests are unclear.
- It can detect mutations in the CaSR, AP2S1, and GNA11 genes, which are associated with FHH 4, 2.
- The use of genetic testing can avoid misdiagnosis and unnecessary treatment, such as surgery for PHPT 5.
- It can also provide a definitive diagnosis, allowing for appropriate management and follow-up of patients with FHH 1, 3.
- Genetic testing can be used to identify family members who may be affected by FHH, allowing for early diagnosis and treatment 3.