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Neuropathic joint disease | |
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Specialty | Rheumatology |
Neuropathic arthropathy (also known as Charcot neuroarthropathy or diabetic arthropathy) refers to a progressive fragmentation of bones and joints in the presence of neuropathy. [1] It can occur in any joint where denervation is present, although it most frequently presents in the foot and ankle. [2] It follows an episodic pattern of early inflammation followed by periarticular destruction, bony coalescence, and finally bony remodeling. [1] This can lead to considerable deformity and morbidity, including limb instability, ulceration, infection, and amputation. [3]
The diagnosis of Charcot neuroarthropathy is made clinically and should be considered whenever a patient presents with warmth and swelling around a joint in the presence of neuropathy. Although counterintuitive, pain is present in many cases despite the neuropathy. Some sort of trauma or microtrauma is thought to initiate the cycle but often patients will not remember because of numbness. Misdiagnosis is common. [1]
The goal of treatment is to avoid ulceration, create joint stability, and to maintain a plantigrade foot. [1] Early recognition, patient education, and protection of joints through various offloading methods is important in treating this disorder. Surgery can be considered in cases of advanced joint destruction. [4]
The clinical presentation varies depending on the stage of the disease from mild swelling to severe swelling and moderate deformity. Inflammation, erythema, pain and increased skin temperature (3–7 degrees Celsius) around the joint may be noticeable on examination. X-rays may reveal bone resorption and degenerative changes in the joint. These findings in the presence of intact skin and loss of protective sensation are pathognomonic of acute Charcot arthropathy.
Roughly 75% of patients experience pain, but it is less than what would be expected based on the severity of the clinical and radiographic findings.
Any condition resulting in decreased peripheral sensation, proprioception, and fine motor control:
Two primary theories have been advanced:
In reality, both of these mechanisms probably play a role in the development of a Charcot joint.
Diabetes is the foremost cause in America today for neuropathic joint disease, [5] and the foot is the most affected region. In those with foot deformity, approximately 60% are in the tarsometatarsal joints (medial joints affected more than lateral), 30% metatarsophalangeal joints, and 10% have ankle disease. Over half of diabetic patients with neuropathic joints can recall some kind of precipitating trauma, usually minor.
Patients with neurosyphilis tend to have knee involvement, and patients with syringomyelia of the spinal cord may demonstrate shoulder deformity. [6]
Hip joint destruction is also seen in neuropathic patients.
Clinical findings include erythema, edema and increased temperature in the affected joint. In neuropathic foot joints, plantar ulcers may be present. It is often difficult to differentiate osteomyelitis from a Charcot joint, as they may have similar tagged WBC scan and MRI features (joint destruction, dislocation, edema). Definitive diagnosis may require bone or synovial biopsy.
First, it is important to recognize that two types of abnormality may be detected. One is termed atrophic, in which there is osteolysis of the distal metatarsals in the forefoot. The more common form of destruction is hypertrophic joint disease, characterized by acute peri-articular fracture and joint dislocation. According to Yochum and Rowe, the "6 D's" of hypertrophy are:
The natural history of the joint destruction process has a classification scheme of its own, offered by Eichenholtz decades ago:
Stage 0: Clinically, there is joint edema, but radiographs are negative. A bone scan may be positive before a radiograph is, making it a sensitive but not very specific modality.
Stage 1: Osseous fragmentation with joint dislocation seen on radiograph ("acute Charcot").
Stage 2: Decreased local edema, with coalescence of fragments and absorption of fine bone debris.
Stage 3: No local edema, with consolidation and remodeling (albeit deformed) of fracture fragments. The foot is now stable.
Atrophic features:
Diabetic foot ulcers should be treated via the VIPs—vascular management, infection management and prevention, and pressure relief. Aggressively pursuing these three strategies will progress the healing trajectory of the wound. Pressure relief (offloading) and immobilization at the acute (active) stage [7] are critical to helping ward off further joint destruction in cases of Charcot foot. Total contact casting (TCC) is recommended, but other methods are also available. [7] TCC involves encasing the patient's complete foot, including toes, and the lower leg in a specialist cast that redistributes weight and pressure in the lower leg and foot during everyday movements. This redistributes pressure from the foot into the leg, which is more able to bear weight, to protect the wound, letting it regenerate tissue and heal. [8] TCC also keeps the ankle from rotating during walking, which prevents shearing and twisting forces that can further damage the wound. [7] TCC aids maintenance of quality of life by helping patients to remain mobile. [9]
There are two scenarios in which the use of TCC is appropriate for managing neuropathic arthropathy (Charcot foot), according to the American Orthopaedic Foot and Ankle Society. [10] First, during the initial treatment, when the breakdown is occurring, and the foot is exhibiting edema and erythema; the patient should not bear weight on the foot, and TCC can be used to control and support the foot. Second, when the foot has become deformed and ulceration has occurred; TCC can be used to stabilize and support the foot, and to help move the wound toward healing.
Walking braces controlled by pneumatics are also used. In these patients, surgical correction of a joint is rarely successful in the long term. However, offloading alone does not translate to optimal outcomes without appropriate management of vascular disease and/or infection. [7] Duration and aggressiveness of offloading (non-weight-bearing vs. weight-bearing, non-removable vs. removable device) should be guided by clinical assessment of healing of neuropathic arthropathy based on edema, erythema, and skin temperature changes. [11] It can take six to nine months for the edema and erythema of the affected joint to recede.
Outcomes vary depending on the location of the disease, the degree of damage to the joint, and whether surgical repair was necessary. Average healing times vary from 55 to 97 days, depending on location. Up to one to two years may be required for complete healing.
There is a 30% five year mortality rate independent of all other risk factors. [12]
Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people. It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940), and the Briton Howard Henry Tooth (1856–1925).
An ulcer is a sore on the skin or a mucous membrane, accompanied by the disintegration of tissue. Ulcers can result in complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Ulcers are most common on the skin of the lower extremities and in the gastrointestinal tract. An ulcer that appears on the skin is often visible as an inflamed tissue with an area of reddened skin. A skin ulcer is often visible in the event of exposure to heat or cold, irritation, or a problem with blood circulation.
The ankle jerk reflex, also known as the Achilles reflex, occurs when the Achilles tendon is tapped while the foot is dorsiflexed. It is a type of stretch reflex that tests the function of the gastrocnemius muscle and the nerve that supplies it. A positive result would be the jerking of the foot towards its plantar surface. Being a deep tendon reflex, it is monosynaptic. It is also a stretch reflex. These are monosynaptic spinal segmental reflexes. When they are intact, integrity of the following is confirmed: cutaneous innervation, motor supply, and cortical input to the corresponding spinal segment.
Diabetic neuropathy includes various types of nerve damage associated with diabetes mellitus. The most common form, diabetic peripheral neuropathy, affects 30% of all diabetic patients. Symptoms depend on the site of nerve damage and can include motor changes such as weakness; sensory symptoms such as numbness, tingling, or pain; or autonomic changes such as urinary symptoms. These changes are thought to result from a microvascular injury involving small blood vessels that supply nerves. Relatively common conditions which may be associated with diabetic neuropathy include distal symmetric polyneuropathy; third, fourth, or sixth cranial nerve palsy; mononeuropathy; mononeuropathy multiplex; diabetic amyotrophy; and autonomic neuropathy.
Peripheral neuropathy, often shortened to neuropathy, refers to damage or disease affecting the nerves. Damage to nerves may impair sensation, movement, gland function, and/or organ function depending on which nerve fibers are affected. Neuropathies affecting motor, sensory, or autonomic nerve fibers result in different symptoms. More than one type of fiber may be affected simultaneously. Peripheral neuropathy may be acute or chronic, and may be reversible or permanent.
Pes cavus, also known as high arch, is an orthopedic condition that presents as a hollow arch underneath the foot with a pronounced high ridge at the top when weight bearing.
An arthropathy is a disease of a joint.
Becaplermin, sold under the brand name Regranex, is a cicatrizant, available as a topical gel. Regranex is a human platelet-derived growth factor indicated along with good wound care for the treatment of lower extremity diabetic neuropathic ulcers. It is also known as "platelet-derived growth factor BB".
Pedobarography is the study of pressure fields acting between the plantar surface of the foot and a supporting surface. Used most often for biomechanical analysis of gait and posture, pedobarography is employed in a wide range of applications including sports biomechanics and gait biometrics. The term 'pedobarography' is derived from the Latin: pedes, referring to the foot, and the Greek: baros meaning 'weight' and also 'pressure'.
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation.
Diabetic shoes are specially designed shoes, or shoe inserts, intended to reduce the risk of skin breakdown in diabetics with existing foot disease and relieve pressure to prevent diabetic foot ulcers.
Arterial insufficiency ulcers are mostly located on the lateral surface of the ankle or the distal digits. They are commonly caused by peripheral artery disease (PAD).
Neuropathy is a condition affecting the nerves of the peripheral nervous system.
A diabetic foot disease is any condition that results directly from peripheral artery disease (PAD) or sensory neuropathy affecting the feet of people living with diabetes. Diabetic foot conditions can be acute or chronic complications of diabetes. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome. The resulting bone deformity is known as Charcot foot.
Chronic wound pain is a condition described as unremitting, disabling, and recalcitrant pain experienced by individuals with various types of chronic wounds. Chronic wounds such as venous leg ulcers, arterial ulcers, diabetic foot ulcers, pressure ulcers, and malignant wounds can have an enormous impact on an individual’s quality of life with pain being one of the most distressing symptoms.
Diabetic foot ulcer is a breakdown of the skin and sometimes deeper tissues of the foot that leads to sore formation. It is thought to occur due to abnormal pressure or mechanical stress chronically applied to the foot, usually with concomitant predisposing conditions such as peripheral sensory neuropathy, peripheral motor neuropathy, autonomic neuropathy or peripheral arterial disease. It is a major complication of diabetes mellitus, and it is a type of diabetic foot disease. Secondary complications to the ulcer, such as infection of the skin or subcutaneous tissue, bone infection, gangrene or sepsis are possible, often leading to amputation.
Total contact casting (TCC) is a specially designed cast designed to take weight off of the foot (off-loading) in patients with diabetic foot ulcers (DFUs). Reducing pressure on the wound by taking weight off the foot has proven to be very effective in DFU treatment. DFUs are a major factor leading to lower leg amputations among the diabetic population in the US with 85% of amputations in diabetics being preceded by a DFU. Furthermore, the five-year post-amputation mortality rate among diabetics is estimated at 45% for those with neuropathic DFUs.
Electrochemical skin conductance (ESC) is an objective, non-invasive and quantitative electrophysiological measure of skin conductance through the application of a pulsating direct current on the skin. It is based on reverse iontophoresis and steady chronoamperometry. ESC is intended to provide insight into and assess sudomotor function and small fiber peripheral neuropathy. The measure was principally developed by Impeto Medical to diagnose cystic fibrosis from historical research at the Mayo Clinic and then tested on others diseases with peripheral neuropathic alterations in general. It was later integrated into health connected scales by Withings.
Diabetic foot infection is any infection of the foot in a diabetic person. The most frequent cause of hospitalization for diabetic patients is due to foot infections. Symptoms may include pus from a wound, redness, swelling, pain, warmth, tachycardia, or tachypnea. Complications can include infection of the bone, tissue death, amputation, or sepsis. They are common and occur equally frequently in males and females. Older people are more commonly affected.
Endocrine & Metabolism Research Institute (EMRI) is one of Tehran University of Medical Sciences research institute with a mission to combine clinical care, research, and education in diabetes, endocrine and metabolic diseases.