Elamin and de Buyl Journal of Medical Case Reports 2010, 4:349 http://www.jmedicalcasereports.com/content/4/1/349 Page 4 of 5 Figure 3 A normal sequence of the CaSR gene in the unaffected son. metabolism, and conversely, the manifestations of these common disorders will be different in patients affected by FHH [8-12]. The case of our proband clearly exem- plifies this. We suggest that all first-degree relatives of patients with hypercalcemia and inappropriately normal or elevated PTH levels should have a calcium level determined. We also think that DNA sequencing is minimally invasive, is becoming more affordable, can lead to accurate diagnosis, and should therefore be car- ried out in members of PTH-related families with hypercalcemia and hypercalcemia patients with overlap- ping fraction of excretion of calcium (0.01 to 0.02). This should also apply to young hypercalcemia patients, any atypical cases in which no first-degree relative is available, and those patients with a typical FHH picture with parents with normocalcemia (to detect de novo mutations). Moreover, techniques such as denaturing high-perfor- mance liquid chromatography (DHPLC) seem to offer a rapid and effective way of screening for mutations in the CaSR gene in these patients [15]. More systematic test- ing would help prevent unnecessary parathyroidec- tomies; allow the detection of more cases, give a better idea of the prevalence of FHH and of different muta- tions in different populations, and help to define the phenotype, such as the set-point, associated with indivi- dual mutations. Conclusion The investigation of this Irish family with hypercalcemia led to the diagnosis of FHH and to the identification of a novel mutation in the CaSR gene. We believe that the molecular diagnosis of FHH through DNA sequencing or DHPLC of the CaSR gene is clinically useful in the differential diagnosis of hypercalcemia in elderly patients with multiple comorbidities. Consent Written informed consent was obtained from the patient and the members of the family reported for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor- in-Chief of this journal. Acknowledgements We are indebted to Professor A Lienhardt and Dr. Corinne Magdelaine from the Laboratoire de Biochimie et Génétique Moléculaire de l’Hôpital Universitaire Dupuytren de Limoges (France), who carried out the sequencing analysis of the CaSR gene. Author details 1Bantry General Hospital, Bantry, Co. Cork, Ireland. 2Elrazi College of Medical Sciences and Technology, Khartoum, Sudan.