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familial hypocalciuric hypercalcemia

ICD-10 Codes

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Description

Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder characterized by lifelong moderate hypercalcemia, which is an elevated level of calcium in the blood, along with normo- or hypocalciuria, meaning normal or low levels of calcium in the urine [1]. This condition is also associated with elevated plasma parathyroid hormone (PTH) concentration [1].

FHH is a generally asymptomatic condition, and individuals with this disorder are often unaware that they have it until routine blood screening reveals an abnormality [4]. The condition is rare and usually benign, with most people living normal lives without significant symptoms [6][12].

The genetic mechanisms underlying FHH involve inactivating mutations in the calcium-sensing receptor (CaSR), the G-protein subunit 伪11, or adaptor-related protein complex 2, sigma 1 subunit [3]. These mutations lead to decreased receptor activity, resulting in mild hypercalcemia and hypocalciuria [15].

FHH is an inherited disorder that can be passed down from parents to children, with a high degree of penetrance [14]. It is essential to note that FHH is not curable by surgery, as it resembles primary hyperparathyroidism but has a different underlying cause [7].

Individuals with FHH typically have mild hypercalcemia, low to moderate levels of calcium in urine, and normal or mildly elevated PTH levels [15]. The condition is usually asymptomatic, and no treatment is generally required, making it a benign form of

Additional Characteristics

  • Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder characterized by lifelong moderate hypercalcemia.
  • The condition is rare and usually benign, with most people living normal lives without significant symptoms.
  • Individuals with FHH typically have mild hypercalcemia, low to moderate levels of calcium in urine, and normal or mildly elevated PTH levels.

Signs and Symptoms

Mild or No Symptoms

Familial hypocalciuric hypercalcemia (FHH) is a rare genetic condition that causes high levels of calcium in the blood, but most people with FHH do not experience any symptoms or have only mild ones. In fact, it's often diagnosed by chance during routine bloodwork when no symptoms are present [1][2].

Possible Symptoms

If symptoms do appear, they may include:

  • Tiredness and weakness
  • Constipation
  • Frequent urination
  • Increased thirst

These symptoms are usually mild and not severe enough to require treatment. In some cases, people with FHH might experience more severe symptoms like pancreatitis or bone pain, but these are rare [3][4].

Key Points

  • Most people with FHH do not have any symptoms.
  • If symptoms occur, they are usually mild and may include tiredness, constipation, frequent urination, and increased thirst.
  • Severe symptoms like pancreatitis or bone pain are rare.

References:

[1] Familial hypocalciuric hypercalcemia (FHH) is an inherited condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL; although uncommon. [1]

[2] People with FHH usually do not have any symptoms and are often diagnosed by chance during routine bloodwork.

[3] Possible associations of familial hypocalciuric hypercalcemia (FHH) include mild symptoms such as tiredness, weakness, constipation, frequent urination, confusion, nausea, abdominal pain, and bone pain.

[4] However, severe symptoms like pancreatitis or bone pain are rare

Additional Symptoms

Diagnostic Tests

Familial hypocalciuric hypercalcemia (FHH) can be diagnosed through various diagnostic tests, which are aimed at confirming the presence of mutations in the CASR gene or other genetic mechanisms that cause FHH.

Genetic Testing The most definitive test for diagnosing FHH is genetic testing, specifically next-generation sequencing (NGS), which detects single nucleotide, deletion-insertion, and copy number variants in the CASR gene [6][9]. This test can confirm a diagnosis of FHH by identifying pathogenic variants in the genes responsible for the condition.

Serum Calcium Concentrations Measuring serum calcium concentrations is another important diagnostic tool. Patients with FHH typically have abnormally high levels of calcium in their blood (hypercalcemia) [10][14]. However, it's essential to note that hypercalcemia can also be caused by other conditions, so genetic testing and clinical history are crucial for confirming a diagnosis.

Urinary Calcium Excretion FHH is characterized by low urinary calcium excretion (hypocalciuria), which can help differentiate it from primary hyperparathyroidism [12][14]. Measuring urinary calcium levels can provide additional evidence to support a diagnosis of FHH.

Family History and Clinical History A positive family history and clinical history, including asymptomatic or symptomatic presentation, can also aid in diagnosing FHH. Patients with FHH often have a family history of the condition [13][14].

In summary, diagnostic tests for familial hypocalciuric hypercalcemia include:

  • Genetic testing (NGS) to detect mutations in the CASR gene
  • Serum calcium concentrations to confirm hypercalcemia
  • Urinary calcium excretion to assess hypocalciuria
  • Family history and clinical history to support a diagnosis of FHH

These diagnostic tests can help confirm a diagnosis of FHH, which is essential for proper management and treatment.

Additional Diagnostic Tests

  • Genetic Testing (NGS)
  • Serum Calcium Concentrations
  • Urinary Calcium Excretion
  • Family History and Clinical History

Treatment

Familial hypocalciuric hypercalcemia (FHH) is a rare genetic disorder characterized by elevated serum calcium levels, despite low or normal urinary calcium excretion. While treatment is not always necessary for FHH, as the condition is often asymptomatic, there are some pharmacological options available to manage symptoms and reduce serum calcium levels.

Treatment Options:

  • Cinacalcet: A calcimimetic therapy that has been reported to reduce symptom burden and serum calcium levels in individuals with FHH [4][5]. It works by mimicking the action of calcium on the parathyroid gland, thereby reducing parathyroid hormone (PTH) secretion.
  • Other treatments: While not typically effective for FHH, other treatments such as diuretics or bisphosphonates may be considered in some cases to manage symptoms [3].

Important Considerations:

  • Asymptomatic nature of FHH: In most individuals with FHH, treatment is not necessary due to the asymptomatic or minimally symptomatic nature of the condition [6].
  • No benefit from surgical management: Unlike primary hyperparathyroidism (PHPT), individuals with FHH do not benefit from surgical management (parathyroidectomy) [7].

Reducing Serum Calcium Levels:

  • Effective treatments: Effective treatments for reducing serum calcium levels in FHH include those that inhibit bone resorption, increase urinary calcium excretion, or decrease intestinal calcium absorption [8].

It's essential to note that treatment decisions should be made on a case-by-case basis and under the guidance of a qualified healthcare professional.

References:

[3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8

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Differential Diagnosis

Familial hypocalciuric hypercalcemia (FHH) is a rare genetic disorder characterized by elevated calcium levels in the blood, despite low or normal urine calcium excretion. The differential diagnosis of FHH involves distinguishing it from other conditions that can cause similar symptoms.

Primary Hyperparathyroidism (PHPT) is a common condition that can mimic FHH, especially in terms of hypercalcemia. However, PHPT typically presents with higher urine calcium levels compared to FHH [1]. The calcium:creatinine clearance ratio (CCCR) is often used as a biochemical test to differentiate between PHPT and FHH, although this test has its limitations [3].

Other differential diagnoses for FHH include disorders of the calcium-sensing receptor, such as familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia [5]. Additionally, primary hyperparathyroidism is the most common differential diagnosis in patients with benign familial hypocalciuric hypercalcemia (BFHH) [6].

A two-step diagnostic procedure can be used to distinguish FHH from PHPT, involving an initial assessment of calcium and creatinine clearance levels, followed by further evaluation if necessary [7]. In some cases, the main differential diagnosis for FHH may be an overactive parathyroid adenoma [8].

It is essential to differentiate FHH from PHPT to avoid unnecessary exploratory parathyroidectomy in patients with hypercalcemia [9]. By considering these differential diagnoses and using appropriate biochemical tests, healthcare providers can accurately diagnose and manage FHH.

References:

[1] by JY Lee 路 2018 路 Cited by 122 [3] by MC Shinall Jr 路 2013 路 Cited by 78 [5] by M Mannstadt 路 Cited by 3 [6] by J Varghese 路 2011 路 Cited by 65 [7] by M Zahedi 路 2021 路 Cited by 1 [8] by EA Wandurraga-S谩nchez 路 2021 [9] by R Jalilian 路 2017 路 Cited by 4

Additional Differential Diagnoses

Additional Information

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