ACDC (medicine)

Rare genetic disorder causing arterial and joint calcification

Arterial calcification due to deficiency of CD73
Synonyms	ACDC, CD73 deficiency
Pronounce	N/A
Specialty	N/A
Symptoms	Arterial calcification, joint stiffness, chronic pain
Complications	Peripheral artery disease, claudication, mobility impairments
Onset	Typically early to mid-adulthood
Duration	Lifelong
Types
Causes	Mutation in the NT5E gene
Risks	Family history, genetic predisposition
Diagnosis	Genetic testing, radiographic imaging
Differential diagnosis	Pseudoxanthoma elasticum, vascular calcification, arteriosclerosis
Prevention	None
Treatment	Symptomatic; investigational use of adenosine or phosphatase inhibitors
Medication	Experimental therapies
Prognosis	Progressive, but not typically life-threatening
Frequency	Extremely rare
Deaths	Rare, related to cardiovascular complications

Arterial calcification due to deficiency of CD73 (ACDC) is a rare genetic disorder characterized by abnormal calcium deposits in the arteries and joints, especially in the lower limbs. The condition results from mutations in the NT5E gene, which encodes the CD73 enzyme that plays a crucial role in purine metabolism and the regulation of vascular calcification.

History

Although patients with symptoms consistent with ACDC were first documented as early as 1914, the disorder remained poorly understood for nearly a century. It was not until 2011 that researchers were able to pinpoint the exact genetic cause: mutations in the NT5E gene that lead to a deficiency of CD73 enzyme activity.

Genetics

ACDC is caused by autosomal recessive mutations in the NT5E gene located on chromosome 6. This gene encodes the CD73 enzyme, which is involved in converting adenosine monophosphate (AMP) to adenosine. In individuals with ACDC, the deficiency in CD73 leads to a reduction in adenosine production, which normally plays a role in inhibiting vascular and soft tissue calcification.

Pathophysiology

In the absence of CD73 function, the molecular pathways that prevent calcium phosphate deposition in the vasculature are impaired. This results in progressive calcification of medium- and small-sized arteries and periarticular tissues, particularly in the hands, feet, and lower extremities.

Clinical presentation

The main symptoms of ACDC include:

• Progressive calcification of arteries and joints
• Claudication (pain during walking)
• Chronic pain in the lower limbs
• Joint stiffness and reduced range of motion
• In some cases, vascular insufficiency or peripheral artery disease

Diagnosis

ACDC diagnosis is confirmed by:

• Clinical evaluation of symptoms
• Imaging studies such as X-rays, CT scans, or MRI that reveal calcified arteries and joints
• Genetic testing to identify mutations in the NT5E gene

Treatment

There is currently no cure for ACDC. Treatment is symptomatic and may include:

• Pain management using analgesics
• Surgical intervention to remove calcified deposits or improve blood flow
• Physical therapy to preserve mobility and reduce stiffness

Experimental therapies

Recent molecular studies have demonstrated that treatment with adenosine or phosphatase inhibitors in laboratory models may reverse or prevent calcification associated with CD73 deficiency. These findings are preliminary but offer hope for future therapeutic development.

Prognosis

ACDC is a progressive condition that can significantly impact quality of life, particularly due to pain and reduced mobility. However, it is generally not life-threatening unless significant vascular complications develop.

Epidemiology

ACDC is an extremely rare disorder, with fewer than 20 families described in medical literature as of the 2020s. The true prevalence is unknown due to underdiagnosis and lack of awareness.

See also

• NT5E
• Vascular calcification
• Peripheral artery disease
• Genetic disorder

External links

• ACDC – Genetic and Rare Diseases Information Center (GARD)
• NT5E gene - NIH Genetics Home Reference

NIH genetic and rare disease info

• NIH info on ACDC (medicine)

ACDC (medicine) is a rare disease.

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