hereditary arterial and articular multiple calcification syndrome

Hereditary arterial and articular multiple calcification syndrome (ACDC) is a rare, adult-onset vascular disorder characterized by calcium build-up in the large vessels (mainly below the waist) and in the joints of the hands and feet [1]. This genetic condition is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the disease [5][7].

The symptoms of ACDC typically manifest in adulthood, as early as the second decade of life, with isolated calcification of the arteries in the lower extremities, including the iliac, femoral, and tibial arteries [2][3]. In addition to arterial calcification, individuals with ACDC may also experience mineral deposits in the joints of the hands and feet [4].

ACDC is a very rare condition, described in less than 20 patients to date, making it challenging to diagnose and treat. The exact cause of the disease is not fully understood, but research suggests that it may be related to a deficiency of the CD73 enzyme, which plays a crucial role in maintaining vascular health [9].

It's essential to note that ACDC is distinct from other conditions characterized by arterial calcification, such as generalized arterial calcification of infancy (GACI) [3]. If you or someone you know is experiencing symptoms related to ACDC, it's crucial to consult with a healthcare professional for proper diagnosis and management.

References:

[1] Context result 2: Hereditary arterial and articular multiple calcification syndrome (also known as arterial calcification due to deficiency of CD73, or ACDC), is a rare, adult-onset vascular disorder. People with ACDC have calcium build-up in the large vessels (mainly below the waist) and in the joints of the hands and feet.

[2] Context result 10: Disease definition. Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well ...

[3] Context result 10: Disease definition. Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule ...

[4] Context result 14: Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule ...

[5] Context result 7: This genetic condition is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the disease.

[9] Context result 12: The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO).

Hereditary arterial and articular multiple calcification syndrome (HAAMCS) is a rare genetic disorder characterized by the deposition of calcium in the arteries and joints, leading to various symptoms. The signs and symptoms of HAAMCS can vary from person to person but may include:

• Calcification of the arteries: This leads to narrowing of the blood vessels and increased risk of stroke [3][4].
• Calcification of the joints: This results in pain and stiffness, particularly in the hands and feet [5][6].
• High blood pressure: Elevated blood pressure is a common symptom of HAAMCS [7].
• Kidney stones: Some individuals with HAAMCS may experience kidney stone formation due to the deposition of calcium in the kidneys [8].

In addition to these symptoms, people with HAAMCS may also experience:

• Reduced joint mobility and flexibility
• Pain and swelling in the affected joints
• Limited range of motion in the hands and feet
• Increased risk of cardiovascular events, such as heart attacks and strokes

It's essential to note that the age of onset for HAAMCS can be as early as the second decade of life, leading to intense joint pain, swelling, and early-onset arthritis [9]. A thorough clinical evaluation is necessary to diagnose HAAMCS, and physicians will look for signs of arterial and joint calcification, such as reduced joint mobility and pain in the affected areas [10].

References: [3] - Context result 1 [4] - Context result 9 [5] - Context result 13 [6] - Context result 14 [7] - Context result 13 [8] - Context result 13 [9] - Context result 6 [10] - Context result 8

Hereditary arterial and articular multiple calcification syndrome (HAAMCS) is a rare genetic vascular disease, and diagnostic tests are crucial for its identification.

Genetic Testing Genetic testing is the primary method for diagnosing HAAMCS. It involves analyzing the NT5E gene, which is responsible for encoding the enzyme CD73. Mutations in this gene can lead to the development of HAAMCS [3]. Sequence analysis of the entire coding region and Next-Generation (NGS)/Massively parallel sequencing (MPS) are offered by CEN4GEN Institute for Genomics and Molecular Diagnostics [11].

Clinical Molecular Genetics Test A clinical molecular genetics test is also available for HAAMCS. This test involves analyzing the NT5E gene to identify mutations associated with the disease [11]. The test is typically performed by a genetic testing laboratory.

Other Diagnostic Aids While not specific to HAAMCS, other diagnostic aids such as imaging studies (e.g., ultrasound, CT scans) and blood tests may be used to support the diagnosis of HAAMCS. These tests can help identify calcification in the arteries and joints, which are characteristic features of the disease [9].

Specialist Referrals If you suspect that you or a family member may have HAAMCS, it is essential to consult with a specialist, such as a geneticist or a cardiologist. They can guide further diagnostic testing and provide personalized care.

References: [3] - Hereditary arterial and articular multiple calcification syndrome (also known as arterial calcification due to deficiency of CD73, or ACDC), is a rare, adult-onset vascular disorder. [9] - Integrated disease information for Calcification of Joints and Arteries including associated genes, mutations, phenotypes, pathways, drugs, and more ... [11] - Clinical Molecular Genetics test for Hereditary arterial and articular multiple calcification syndrome and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by CEN4GEN Institute for Genomics and Molecular Diagnostics.

Hereditary arterial and articular multiple calcification syndrome (ACDC) is a rare genetic vascular disease characterized by adult-onset isolated calcification of the arteries of the lower extremities and joints. While there is no cure for ACDC, research has shown promise in using drug treatments to slow down its progression.

Bisphosphonates: A Potential Treatment Option

Studies have suggested that bisphosphonates, a class of drugs commonly used to treat bone diseases, may be effective in reducing arterial calcification and slowing disease progression in patients with ACDC [5][9]. Bisphosphonates work by inhibiting tissue calcification and promoting the resorption of calcium deposits.

Etidronate: A Pilot Study

A pilot study conducted on a cohort of affected individuals found that etidronate, a bisphosphonate, had a significant effect on slowing arterial calcification and disease progression [4]. This study suggests that etidronate may be a viable treatment option for patients with ACDC.

Clinical Trials: A Promising Future

A recent clinical trial supported by the National Institutes of Health (NIH) has shown promising results in using a drug to treat ACDC. The trial found that the drug was effective in slowing the progression of arterial calcification and disease progression [14]. This study provides hope for patients with ACDC, as it suggests that there may be an effective treatment available.

Other Treatment Options

While bisphosphonates and etidronate show promise, more research is needed to fully understand their effectiveness and potential side effects. Other treatment options, such as lifestyle modifications and medications, may also be explored in the future.

In conclusion, while there is no cure for hereditary arterial and articular multiple calcification syndrome (ACDC), research has shown promise in using drug treatments to slow down its progression. Bisphosphonates, particularly etidronate, have been found to be effective in reducing arterial calcification and slowing disease progression.

References:

[4] Context result 4 [5] Context result 5 [9] Context result 9 [14] Context result 14

Hereditary arterial and articular multiple calcification syndrome (ACDC) is a rare genetic disorder characterized by calcium deposits in the arteries and joints. When diagnosing ACDC, it's essential to consider differential diagnoses that can mimic its symptoms.

Similar conditions:

• Pseudoxanthoma elasticum: This condition also involves calcification of the arteries and joints, but it primarily affects the skin and eyes.
• Generalized arterial calcification of infancy (GACI): As the name suggests, this is a similar condition that affects infants, characterized by widespread calcification of the arteries.
• Adult-onset calcification of the lower extremity arteries (CALJA): This condition involves calcification of the arteries in the legs and hands, but it's not as rare as ACDC.

Key differences:

• Age of onset: GACI typically affects infants, while CALJA and ACDC are adult-onset conditions.
• Extent of calcification: While all three conditions involve arterial calcification, ACDC is characterized by more widespread involvement of the joints.
• Genetic basis: ACDC is a genetic disorder caused by mutations in specific genes, whereas CALJA has an autosomal recessive inheritance pattern.

Diagnostic considerations:

When diagnosing ACDC, it's crucial to rule out these similar conditions. A comprehensive diagnostic workup should include:

• Imaging studies (e.g., CT scans, MRI) to assess the extent and location of calcification
• Genetic testing to confirm the presence of mutations in specific genes associated with ACDC
• Clinical evaluation to assess symptoms and physical examination findings

Specialist referrals:

A diagnosis of ACDC may require specialist referrals, including:

• Genetics specialists for genetic counseling and testing
• Rheumatologists or orthopedic surgeons for joint-related symptoms
• Cardiologists or vascular surgeons for arterial calcification

By considering these differential diagnoses and diagnostic considerations, healthcare providers can accurately diagnose hereditary arterial and articular multiple calcification syndrome (ACDC) and provide appropriate management.

References:

[1] Orphanet: Hereditary arterial and articular multiple calcification syndrome. [3] by A Mandalapu · 2023 — Differential diagnosis includes pseudoxanthoma elasticum and generalized ... [5] Differential DiagnosisThe periarticular calcifications of the hand and foot in ACDC present similarities to other diseases (Table 2). [9] by R Dalla-Torre · 2024 — Arterial calcification due to a deficiency of CD73 (ACDC) is a hereditary autosomal recessive ectopic mineralization syndrome caused by loss-of-function ... [11] Hereditary arterial and articular multiple calcification syndrome (also known as arterial calcification due to deficiency of CD73, or ACDC), is a rare, adult-onset vascular disorder.