Familial hypocalciuric hypercalcemia history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ajay Gade MD [2]]

Overview

The majority of patients with familial hypocalciuric hypercalcemia (FHH) are asymptomatic. Very rarely can present with signs and symptoms of hypercalcemia such as confusion, fatigue, muscle weakness, constipation, anorexia, anhedonia, headaches, gastroesophageal reflux, polyuria, polydipsia, palpitations, nausea, vomiting thinning of hair.

History and Symptoms

History

Majority of patients with FHH have a non-specific history, therefore a detailed and thorough history from the patient is necessary. Emphasis should be placed on patients with a positive family history of hypercalcemia and history of kidney stones.^[1]

Symptoms

The majority of patients with FHH are asymptomatic. However, FHH can present with signs and symptoms of hypercalcemia such as:

References

↑ Hendy GN, Guarnieri V, Canaff L (2009). “Calcium-sensing receptor and associated diseases”. Prog Mol Biol Transl Sci. 89: 31–95. doi:10.1016/S1877-1173(09)89003-0. PMID 20374733.
↑ Whitcomb DC (2010). “Genetic aspects of pancreatitis”. Annu. Rev. Med. 61: 413–24. doi:10.1146/annurev.med.041608.121416. PMID 20059346.

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[pmid20374733-1] Hendy GN, Guarnieri V, Canaff L (2009). “Calcium-sensing receptor and associated diseases”. Prog Mol Biol Transl Sci. 89: 31–95. doi:10.1016/S1877-1173(09)89003-0. PMID 20374733.

[pmid20059346-2] Whitcomb DC (2010). “Genetic aspects of pancreatitis”. Annu. Rev. Med. 61: 413–24. doi:10.1146/annurev.med.041608.121416. PMID 20059346.

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