II. Epidemiology

  1. Autosomal Dominant with high penetrance
  2. Presents in young patients

III. Precautions

  1. Do not miss FBHH as a cause of Hypercalcemia (especially if considering Parathyroidectomy)

IV. Labs

  1. Serum Calcium
    1. Lifelong Hypercalcemia
    2. A prior normal Serum Calcium excludes FBHH
  2. Urine Calcium clearance to Creatinine Clearance
    1. Level <0.01 suggests FBHH

V. Complications

  1. None

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Ontology: Hypocalciuric hypercalcemia, familial, type 1 (C0342637)

Concepts Disease or Syndrome (T047)
MSH C537145
ICD10 E83.52
SnomedCT 237885008, 54920000
English Fam hypocalciuric hypercalcaem, HYPERCALCEMIA, FAMILIAL BENIGN, FHH1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I, FAMILIAL BENIGN HYPERCALCEMIA 1, FBH1, HHC1, FHH -Fam hypocalciur hypercalc, familial hypocalcuric hypercalcemia (diagnosis), familial hypocalcuric hypercalcemia, Hypercalcemia, familial benign type 1, Familial benign hypercalcemia type 1, Hypercalcemia, Familial Benign, Hypocalciuric Hypercalcemia, Familial, Type I, Familial Benign Hypercalcemia 1, Hypocalciuric hypercalcemia, familial, type 1, familial hypocalcuric (HHC), Familial benign hypercalcemia, Familial benign hypercalcaemia, FFH, Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcaemia, FHH - Familial hypocalciuric hypercalcaemia, FHH - Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia (disorder)
Spanish Hipercalcemia hipocalciúrica familiar, hipercalcemia hipocalciúrica familiar (trastorno), hipercalcemia hipocalciúrica familiar
Dutch familiale hypocalciurische hypercalciëmie
Italian Ipercalcemia familare ipocalciurica, Ipercalcemia ipocalciurica familiare
German familiaere hypokalziurische Hyperkalzaemie
French Hypercalcémie hypocalciurique familiale
Portuguese Hipercalcemia hipocalciuríca familiar
Czech Familiární hypokalciurická hyperkalcamie
Japanese カゾクセイテイカルシウムニョウセイコウカルシウムケツショウ, 家族性低カルシウム尿性高カルシウム血症, カゾクセイテイカルシウムニョウセイコウカルシウムケッショウ
Hungarian Familiaris hypocalciuricus hypercalcaemia

Ontology: Familial benign hypercalcemia (C1809471)

Concepts Disease or Syndrome (T047)
SnomedCT 190868007, 54920000
English Familial benign hypercalcemia, Familial benign hypercalcaemia, Familial benign hypercalcemia (disorder)
Spanish Hipercalcemia familiar benigna, hipercalcemia familiar benigna, hipercalcemia benigna familiar (trastorno), hipercalcemia benigna familiar
Dutch familiale benigne hypercalciëmie
Italian Ipercalcemia benigna familiare, Ipercalcemia familiare benigna
German familiaere benigne Hyperkalzaemie
French Hypercalcémie bénigne familiale
Portuguese Hipercalcemia benigna familiar
Czech Familiární benigní hyperkalcamie
Japanese 家族性良性高カルシウム血症, カゾクセイリョウセイコウカルシウムケッショウ, カゾクセイリョウセイコウカルシウムケツショウ
Hungarian Familiaris jóindulatú hypercalcaemia, Familiaris jóindulatú hypercalcemia