scholarly journals Calcimimetic effect of alfacalcidol in a patient with unusual occurrence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism - Case Report

2017 ◽  
Author(s):  
Mariana Costache Outas
Keyword(s):  
Case Report ◽  
Primary Hyperparathyroidism ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Unusual Occurrence

scholarly journals Clinical Presentation and Management Approach in a Case of Familial Hypocalciuric Hypercalcemia Type 3 Due to APS21 Gene Mutation

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A188-A188
Author(s):  
Sahar A Elsheikh ◽  
Henry M Blunk ◽  
Scott Wilhelm
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Primary Hyperparathyroidism ◽  
Calcium Homeostasis ◽  
Clinical Presentation ◽  
Genetic Disorder ◽  
Management Approach ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Surgical Options ◽  
Type 3

Abstract Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder caused by dysfunctional calcium homeostasis. Thus far, three types of FHH are known to be caused by mutations inCASR (FHH1), GNA11 (FHH2), and AP2S1 (FHH3). The patient in this case report is a 36-year old male that initially presented for a second opinion after being diagnosed with Primary Hyperparathyroidism(PHPT) with subsequent parathyroidectomy done at another institute, and developed recurrent symptomatic hypercalcemia. Prior to considering this patient for further surgical options, he underwent genetic testing, which revealed he had c.43C>T (p.Arg15Cys) mutation in the AP2S1 gene diagnostic of Familial Hypocalciuric Hypercalcemia Type 3 (FHH3). The patient’s father and sister also have hypercalcemia, and have been offered genetic testing. There have been cases reported of patients with FHH3 that have symptomatic hypercalcemia and that have associated cognitive issues. Many patients with FHH can be misdiagnosed and may undergo unnecessary parathyroidectomy. This case report further elucidates the need to raise awareness of FHH.

A case report of concomitant diagnosis of multiple myeloma and primary hyperparathyroidism

2019 ◽  
Author(s):  
Eithar Deyab ◽  
Muhammad Esakji ◽  
Neil Rabin ◽  
Ravi Menon ◽  
Girish Rayanagoudar
Keyword(s):  
Multiple Myeloma ◽  
Case Report ◽  
Primary Hyperparathyroidism

Bilateral femoral fractures in a pacient with primary hyperparathyroidism: A case report

2019 ◽  
Author(s):  
Bianca Ioan ◽  
Ioana Ambarus ◽  
Laura Feraru ◽  
Alina Chelaru ◽  
Madalina Protop ◽  
...  
Keyword(s):  
Case Report ◽  
Primary Hyperparathyroidism ◽  
Femoral Fractures

scholarly journals Severe bone disease caused by primary hyperparathyroidism: a case report and review of the literature

2020 ◽  
Vol 48 (10) ◽  
pp. 030006052096648
Author(s):  
Yu Wang ◽  
Jie Liu
Keyword(s):  
Case Report ◽  
Primary Hyperparathyroidism ◽  
Bone Disease ◽  
Distal Humerus ◽  
Left Lobe ◽  
Pathological Examination ◽  
Hypoechoic Mass ◽  
Brown Tumors ◽  
Restricted Mobility ◽  
The Right

Bone disease is an important complication of hyperparathyroidism. We herein report a rare case of severe bone disease caused by primary hyperparathyroidism. A 33-year-old man presented with pain and restricted mobility in his right upper limb and right hip due to a fall 3 days previously. X-ray examination showed a fracture of the proximal and distal humerus. Computed tomography examination showed a supracondylar fracture of the right humerus, a fracture of the right femoral neck, a fracture of the right sciatic branch, and multiple brown tumors. Ultrasonography showed a 3.5- × 1.6-cm hypoechoic mass below the left lobe of the thyroid. The patient was diagnosed with primary hyperparathyroidism based on increased serum calcium and parathormone concentrations, pathological fractures, and multiple brown tumors. He therefore underwent bilateral lower parathyroidectomy. Pathological examination revealed a parathyroid adenoma. The patient recovered well after surgery and was followed up for 6 months with no symptoms of hyperparathyroidism. This case report suggests that clinicians should be aware of the possibility of severe bone disease secondary to primary hyperparathyroidism. Active and early diagnosis and surgical treatment are important in such cases.

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