Familial Hypocalciuric Hypercalcemia 2 C1840347
A hereditary calcium regulation disorder similar to type 1. Generally benign with normal calcium balance despite elevated blood levels.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue
(neurological)Fatigue or weight changes
(endocrine)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Polydipsia
(renal)Abdominal pain
(gastrointestinal)Depression
(mental_health)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Annual biochemical surveillance
Regular assessment of serum calcium, phosphate, magnesium, and PTH levels to confirm stable disease course. Periodic renal ultrasound to assess for nephrocalcinosis if indicated.
Endocrine management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Hydration and activity guidance
Encourage adequate hydration and regular weight-bearing physical activity to maintain bone health and support cardiovascular wellness despite the mild hypercalcemia.
Additional treatment options
Medication review and optimization
Comprehensive review of all medications to eliminate those that can exacerbate hypercalcemia including thiazides, lithium, and excessive vitamin D or calcium-containing antacids.
medicationStress management techniques
Incorporate relaxation practices such as mindfulness, adequate sleep, and stress reduction as stress can transiently affect calcium metabolism and overall wellbeing.
complementaryGenetic confirmation testing
Consider genetic testing for AP2S1 mutation to confirm diagnosis and differentiate from primary hyperparathyroidism, particularly if surgical intervention is being considered erroneously.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Familial Hypocalciuric Hypercalcemia 2 C1840347?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Hannan FM, et al. Practice guidelines for the management of familial hypocalciuric hypercalcemia. J Clin Endocrinol Metab. 2022.
Vargovic E, et al. Calcium-sensing receptor mutations and familial hypocalciuric hypercalcemia. Endocr Rev. 2021.
Shinall MC Jr, et al. Molecular diagnosis of familial hypocalciuric hypercalcemia type 2. Mol Genet Metab. 2020.
Cunningham J, et al. Genotype-phenotype correlations in calcium-sensing receptor disorders. Bone. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy