Familial hypocalciuric hypercalcemia (patient information)
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Familial hypocalciuric hypercalcemia |
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Where to find medical care for Familial hypocalciuric hypercalcemia? |
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Familial hypocalciuric hypercalcemia On the Web |
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Directions to Hospitals Treating Familial hypocalciuric hypercalcemia |
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Risk calculators and risk factors for Familial hypocalciuric hypercalcemia |
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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
Familial hypocalciuric hypercalcemia is a genetic condition characterized by asymptomatic hypercalcemia and low urinary calcium.
What are the Symptoms of Familial hypocalciuric hypercalcemia?
The majority of patients with familial hypocalciuric hypercalcemia (FHH) are asymptomatic.However, FHH can present with signs and symptoms of hypercalcemia such as:
- Constipation
- Increased urination
- Increased thirst
- Loss of appetite
- Loss of concentration
- Abdominal pain
- Muscle weakness
- Confusion
- Fatigue
- Neuropsychiatric symptoms
What Causes Familial hypocalciuric hypercalcemia?
- FHH is a benign inherited condition caused by mutations in the calcium-sensing receptor located on chromosome 3.
- The calcium-sensing receptor is present on the parathyroid glands that are present in the neck region and the lining the kidney tubule.
- CASR has the ability to sense small changes in circulating calcium concentration and send this information that modifies parathyroid hormone (PTH) secretion or renal calcium handling.
- Inherited abnormalities of the CASR gene, can cause either hypercalcemia or hypocalcemia depending upon whether they are inactivating or activating.
Who is at Highest Risk?
Patients with a positive family history of high blood calcium and absence of symptoms are at high risk.
Diagnosis
Blood tests are done to check for increased levels of calcium, phosphate, parathyroid hormone (PTH), and alkaline phosphatase. A 24-hour urine collection test can help determine how much calcium is being removed from the body.
Bone x-rays and bone mineral density test can help detect bone loss, fractures, or bone softening.
X-rays, ultrasound, or CT scans of the kidneys or urinary tract may show calcium deposits or a blockage.
When to Seek Urgent Medical Care?
Make an appointment with your primary care physician if you have any symptoms of hypercalcemia.
Treatment Options
There is no treatment for FHH as it is a benign condition. Surgical intervention is not recommended for the FHH, rarely parathyroid glands are removed by surgical excision in patients with associated conditions such as
Where to find Medical Care for Familial hypocalciuric hypercalcemia?
Make an appointment with your primary care physician if you have symptoms of hypercalcemia.
Prevention
There are no established measures for the primary or secondary prevention of familial hypocalciuric hypercalcemia.
What to Expect (Outlook/Prognosis)?
This is an asymptomatic condition. People with this condition can have a normal lifespan with a routine lifestyle.
Possible Complications
Very rarely FHH can cause complications secondary to hypercalcemia, which includes:
- Urinary tract infection due to kidney stones and blockage
- Peptic ulcer disease
- Pancreatitis
- Pseudogout