Familial hypocalciuric hypercalcemia history and symptoms

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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 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

The majority of patients with FHH are asymptomatic.

History

Although the majority of patients with FHH have non-specific history but a detailed and thorough history from the patient is necessary. These patients may have a positive history of hypercalcemia such as

Kidney stones Frequent and excessive urination Gastrointestinal symptoms like epigastric pain, constipation, indigestion, nausea, and vomiting Feeling tired, ill, and weak Depression and memory disturbances^[1].

Symptoms

Although asymptomatic, FHH can present with signs and symptoms of hypercalcemia such as

Constipation
Polyuria
Polydipsia
Anorexia
Anhedonia
Abdominal pain
Muscle weakness
Confusion
Fatigue
Neuropsychiatric symptoms^[2].

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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[2]