Familial Hypocalciuric Hypercalcemia Type 1 Overview

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Learn About Familial Hypocalciuric Hypercalcemia Type 1

What is the definition of Familial Hypocalciuric Hypercalcemia Type 1?
Familial hypocalciuric hypercalcemia (FHH) type 1 is subtype of a rare genetic (autosomal dominant) condition caused by a mutation in the calcium-sensing receptor gene (CASR). Familiar hypocalciuric hypercalcemia type 1 results in a loss of sensitivity in parathyroid and kidney cells that makes the body register high calcium levels (hypercalcemia) as normal. Familial hypocalciuric hypercalcemia type I accounts for 65% of cases.
What are the symptoms of Familial Hypocalciuric Hypercalcemia Type 1?
Most individuals with familial hypocalciuric hypercalcemia type 1 do not have any symptoms. In rare cases, individuals with familial hypocalciuric hypercalcemia type 1may experience symptoms of weakness, fatigue, headache, constipation, excessive thirst, excessive urination, and problems focusing. Some individuals with familial hypocalciuric hypercalcemia type 1 may develop relapsing pancreatitis, a build-up of calcium deposits in the joints, and early vascular calcification.
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What are the current treatments for Familial Hypocalciuric Hypercalcemia Type 1?
For most individuals with familial hypocalciuric hypercalcemia type 1, no treatment is necessary. In patients with familial hypocalciuric hypercalcemia type 1 who have developed pancreatitis, a total parathyroidectomy may be performed.
Who are the top Familial Hypocalciuric Hypercalcemia Type 1 Local Doctors?
Endocrinology
Endocrinology

Franciscan Medical Group

2601 Cherry Ave, Suite 315, 
Bremerton, WA 
 99.2 mi
Accepting New Patients
Offers Telehealth

Sarena Ravi is an Endocrinologist in Bremerton, Washington. Dr. Ravi and is rated as an Advanced provider by MediFind in the treatment of Familial Hypocalciuric Hypercalcemia Type 1. Her top areas of expertise are Thyroid Storm, Osteoporosis, Postmenopausal Osteoporosis, and Obesity in Children. Dr. Ravi is currently accepting new patients.

Endocrinology
Endocrinology
1400 E Kincaid St, Skagit Regional Clinics, 
Mount Vernon, WA 
 40.4 mi
Accepting New Patients
Offers Telehealth

George Ang is an Endocrinologist in Mount Vernon, Washington. Dr. Ang and is rated as a Distinguished provider by MediFind in the treatment of Familial Hypocalciuric Hypercalcemia Type 1. His top areas of expertise are Hyperthyroidism, Familial Hypocalciuric Hypercalcemia Type 1, Hypercalcemia, and Peripheral Neuropathy. Dr. Ang is currently accepting new patients.

 
 
 
 
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Internal Medicine
Internal Medicine

Franciscan Medical Group

1950 Nw Myhre Rd, 
Silverdale, WA 
 94.8 mi
Accepting New Patients
Offers Telehealth

Brian Bechtold is an Internal Medicine provider in Silverdale, Washington. Dr. Bechtold and is rated as an Experienced provider by MediFind in the treatment of Familial Hypocalciuric Hypercalcemia Type 1. His top areas of expertise are Iron Deficiency Anemia, Childhood Iron Deficiency Anemia, Obesity in Children, and Hypothyroidism. Dr. Bechtold is currently accepting new patients.

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Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries.