Familial hypocalciuric hypercalcemia differential diagnosis

Familial hypocalciuric hypercalcemia Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Familial Hypocalciuric Hypercalcemia from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography and Ultrasound
CT scan
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Familial hypocalciuric hypercalcemia differential diagnosis On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Familial hypocalciuric hypercalcemia differential diagnosis All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Familial hypocalciuric hypercalcemia differential diagnosis
CDC on Familial hypocalciuric hypercalcemia differential diagnosis
Familial hypocalciuric hypercalcemia differential diagnosis in the news
Blogs on Familial hypocalciuric hypercalcemia differential diagnosis
Directions to Hospitals Treating Psoriasis
Risk calculators and risk factors for Familial hypocalciuric hypercalcemia differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

OR

[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

Differentiating X from other Diseases

• [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
• [Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

• As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].

Preferred Table

Differential diagnosis of Familial Hypocalciuric Hypercalcemia on the basis of hypercalcemia
Disorder		Mechanism of hypercalcemia	Clinical features	Laboratory findings				Imaging & diagnostic modalities
				PTH	Calcium	Phosphate	Other findings
Familial hypocalciuric hypercalcemia		This is a genetic disorder caused my mutation in calcium-sensing receptor gene.	This is a benign condition and does not require treatment.	Normal/↑	Normal/↑		--	Calcium/creatinine clearance ratio
Hyperparathyroidism	Primary hyperparathyroidism	Increase in secretion of parathyroid hormone (PTH) from a primary process in parathyroid gland. Parathyroid hormone causes increase in serum calcium.	Usually asymptomatic Hypercalcemia detected on routine biochemical panel	↑	↑	↓/Normal	Normal/↑ calcitriol	Findings of bone resorption: X-ray DXA Preoperative localization of hyperfunctioning parathyroid gland: Non-Invasive Tc-99m sestamibi scintigraphy Neck ultrasound 4D-CT SPET(P-SPECT) PET MRI Invasive: Super sensitive venous sampling Selective arteriography Angiography Predicting post-operative success: Intraoperative parathyroid hormone monitoring
	Secondary hyperparathyroidism	Increase in secretion of parathyroid hormone (PTH) from a secondary process. Parathyroid hormone causes increase in serum calcium.	May present with history of: Chronic renal failure Vitamin D deficiency	↑	↓/Normal	↑	--
	Tertiary hyperparathyroidism	Continuous elevation of parathyroid hormone (PTH) even after successful treatment of the secondary cause of elevated parathyroid hormone. Parathyroid hormone causes increase in serum calcium.	Usually present with history of: Kidney transplant Usually hyperplasia of all four parathyroid glands	↑	↑	↑	--
Malignancy	Humoral hypercalcemia of malignancy	Tumor cells secretes parathyroid hormone related protein (PTHrP) which has similar action as parathyroid hormone.	Most common cause of malignancy related hypercalcemia. Usually present in solid tumors	--	↑	↓/Normal	↑ PTHrP Normal/↑ calcitriol	Chest X-ray CT scan MRI
	Osteolytic tumors	Multiple myeloma produces osteolysis of bones causing hypercalcemia. Osteolytic metastasis can cause bone resorption causing hypercalcemia.	Most commonly present in multiple myeloma and breast cancer.	↓	↑	--	--	DXA X-ray Mammography Ultrasound ESR Serum protein electrophoresis
	Production of calcitirol	Some tumors has ectopic activity of 1-alpha-hydroxylase leading to increased production of calcitriol. Calcitriol is active form of vitamin D and causes hypercalcemia.	Most commonly present in lymphomas and in some ovarian germ cell tumors.	--	↑	--	↑ Calcitriol	CT scan MRI
	Ectopic parathyroid hormone	Some tumors leads to ectopic production of parathyroid hormone.	In rare instances, small cell carcinoma of lung may produce hypercalcemia by this process.	↑	↑	↓/Normal	Normal/↑ Calcitriol	Chest X-ray CT scan MRI
Medication induced	Lithium	Lithium lowers urinary calcium and causes hypercalcemia. Lithium has been reported to cause an increase in parathyroid hormones and enlargement if parathyroid gland after weeks to months of therapy.	History of mood disorder	↑	↑	--	--	Lithium levels
	Thiazide diuretics	Thiazide diuretics lowers urinary calcium excretion and causes hypercalcemia	History of cardiac disorder Rarely causes hypercalcemia	--	↑	--	--	--
Nutritional	Milk-alkali syndrome	Hypercalcemia is be caused by high intake of calcium carbonate	History of High milk intake Excess calcium intake for treating: Osteoporosis Dyspepsia May lead to metabolic alkalosis and renal insufficiency.	--	↑	--	--	Renal function test
	Vitamin D toxicity	Excess vitamin D causes increased absorption of calcium from intestine causing hypercalcemia.	History of: Excess intake vitamin D Excess milk fortified with vitamin D Topical application of vitamin D analogue analogue calcipotriol	--	↑	--	↑ Vitamin D (calcidiol and/or calcitriol)	--
Granulomatous disease	Sarcoidosis	Hypercalcemia is causes by endogeous production of calcitriol by disease-activated macrophages.	History of: Cough Dyspnea Chest pain Tiredness or weakness Fever Weight loss	--	↑	--	↑ Calcitriol ↑ ACE levels	Chest X-ray Biopsy

Use if the above table can not be made

Differential Diagnosis	Similar Features	Differentiating Features
Differential 1	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Differential 2	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Differential 3	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Differential 4	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Differential 5	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].