Rheumatic Manifestations of Metabolic Disease

What is Rheumatic Manifestations of Metabolic Disease?

Rheumatological symptoms, which relate to problems involving joints, muscles, and bones, often occur together with endocrine diseases, which can impact different glands in your body that produce hormones. This connection can be seen in conditions like diabetes, thyroid diseases, parathyroid disorders, and a disease called hemochromatosis where too much iron builds up in your body.

Let’s look at diabetes, for example. Diabetes often comes with a variety of rheumatological symptoms. This happens because high blood sugar levels for a long time can cause inflammation and affect the function of immune cells, which help your body fight off illnesses. Common issues that diabetic patients might face include inflammation of the hand’s tendons, joint stiffness, shoulder pain, abnormal bone growth, nerve damage in the foot, carpal tunnel syndrome, which causes numbness and tingling in your hand, and a condition where muscles suddenly swell and become painful.

Next, let’s look at thyroid diseases like Hashimoto thyroiditis and hyperthyroidism, where your thyroid produces too little or too much thyroid hormone. These conditions often come with muscle weakness, carpal tunnel syndrome, joint swelling caused by build-up of certain substances, and forms of arthritis like gout and pseudogout.

Parathyroid disorders, which affect small glands in your neck that control calcium levels, can come with bone problems and a severe skin condition known as calciphilaxis in 13% to 93% of cases.

Lastly, hemochromatosis, a disease where too much iron builds up in your body, can cause joint problems.

It is essential to recognize the link between these metabolic disorders and different rheumatological symptoms to prevent more severe complications down the line.

What Causes Rheumatic Manifestations of Metabolic Disease?

Diabetes

In people with diabetes (type 1 and 2), a type of compound called advanced glycation end-products (AGEs) can build up. These AGEs can get absorbed by the cells in your joints and tendons, leading to complications. This absorption process can trigger inflammation promoters like tumor necrosis factor-α and interleukin-6, which can in turn promote abnormal growth of blood vessels in tendons and joints.

Thyroid Disease

Autoimmune thyroid diseases and rheumatic diseases often show an increased presence of certain immune system markers known as human leukocyte antigens DR4, DR3, and B8. Graves disease and chronic lymphocytic thyroiditis can also cause higher levels of autoantibodies which are antibodies that mistakenly attack a person’s own tissues or organs. Both overactive (hyperthyroidism) and underactive (hypothyroidism) thyroid function can be linked to most symptoms associated with rheumatological diseases.

Parathyroid Diseases

In the case of primary hyperparathyroidism, where there is too much calcium in the blood and high parathyroid hormone levels, it can lead to joint and muscle problems. This is often due to disruptions in a cellular signaling pathway known as the Wnt pathway. This can contribute to joint inflammation, pain, and a condition called pseudogout, where calcium crystals form in and around the joints. There is also a rare complication known as calciphylaxis which involves the hardening of small blood vessels due to high calcium and phosphate levels, possibly related to a lack of a protein called fetuin-A.

Hemochromatosis

Hemochromatosis is a condition where the body stores too much iron, which can affect various organs. Its symptoms can be similar to those of rheumatological and metabolic disorders. The most common type of this condition is hereditary hemochromatosis, which is usually inherited and associated with specific gene mutations (C282Y and H63D in the HFE gene). Hemochromatosis is now classified into two types: HFE-related (associated with the HFE gene) and non-HFE-related, with the secondary type generally arising from frequent blood transfusions or excessive iron intake from diet.

Risk Factors and Frequency for Rheumatic Manifestations of Metabolic Disease

Diabetes can cause a variety of joint and muscle issues called rheumatologic manifestations. About 30% of people with type 2 diabetes experience carpal tunnel syndrome (CTS), a painful condition also exacerbated by uncontrolled blood sugar levels and nerve damage. CTS is the most common joint and muscle issue associated with diabetes. Less common, but still significant, is a joint disorder called neuropathic osteoarthropathy or Charcot joint, which affects between 0.1% to 0.9% of people with diabetes. Other issues include adhesive shoulder capsulitis (affecting 10% to 22% of patients with uncontrolled diabetes), flexor tenosysivitis or trigger finger (5% to 10% of patients), and diabetic muscle infarction.

People with thyroid diseases, such as hypothyroidism, can also experience rheumatologic manifestations. Hypothyroidism most often affects women aged 40 to 70 and can cause joint and muscle problems in up to 79% of patients. Other associated conditions include osteoarthritis, myxedema, arthropathy, and pseudogout. A rare condition called thyroid acropachy occurs in 1% of patients with Graves’ disease.

Primary hyperparathyroidism (PHPT) is the third most common hormone disorder and can affect 2 to 7 per 1,000 adults. It causes joint and muscle issues in 13% to 93% of patients. Pseudogout often occurs several years after treatment for PHPT. Other associated conditions include osteitis fibrosa cystica and calciphylaxis.

Hemochromatosis, a disease affecting nearly 16 million Americans, can lead to joint and muscle problems, with arthritis being the most common (affecting around 45% of patients).

Signs and Symptoms of Rheumatic Manifestations of Metabolic Disease

Diabetes can lead to many joint and muscle problems that affect your body’s movement and can decrease your quality of life. These issues can cause pain, tightness, and limited movement. There are several types of diabetes-related complications:

• ‘Trigger finger’: This finger issue involves hard knots forming in the area where the finger bones meet the hand, which leads to locking fingers and reduced movement. It can cause pain and swelling. Sometimes, chronic and untreated instances can lead to Dupuytren’s contractures – a hand deformity.
• Diabetic cheiroarthropathy (limited joint mobility syndrome): This causes stiffness in the hands and fingers, severely limiting their movement. A way to test for this is by seeing if the person can put their hands flat against each other as if praying, or if they can place their hand on a table at a 90-degree angle. This is also associated with tight, waxy skin.
• ‘Frozen shoulder’: A painful condition that limits shoulder movement due to the accumulation of materials that destroy the joint. The most affected is the glenohumeral joint, found in your shoulder.
• Diffuse idiopathic skeletal hyperostosis (DISH): This disease may not have symptoms and may only be found using X-rays. DISH involves ligaments becoming calcified and hardened. Symptoms can include back pain and stiffness. It often mimics other conditions such as ankylosing spondylitis and degenerative spondylosis. It can also affect the pelvis, knee cap, and heel.
• Charcot neuroarthropathy: This is a long-term, potentially destructive condition that affects the bone and joints. Often, people have a long history of neuropathy before this diagnosis. It most often affects foot joints but can also affect the knee, wrist, and rarely the spine.
• Carpal tunnel syndrome: This involves pressure on the median nerve in the wrist, leading to numbness, tingling, and pain in the hand areas controlled by this nerve. Symptoms can be worse at night. The advanced disease can cause a loss of feeling and muscle weakness.
• Diabetic muscle infarction: This is caused by poorly controlled diabetes, causing sudden, severe pain without a history of injury. Physical examination usually reveals a feelable mass.

Similarly, certain thyroid and parathyroid disorders can lead to body-wide problems, affecting various tissues and organs, manifesting with a variety of symptoms:

• Thyroid acropachy: This condition shows up as changes to the hands, fingers, feet, and shins in patients with Graves disease. Imaging reveals swelling of the soft tissue and digits.
• Hypothyroid myopathy: This impairs muscle metabolism. It can show up as nonspecific muscle aches which increase with activity. Muscles surrounding the hip and shoulder are the most commonly affected.
• Osteitis fibrosa: A rare disorder involving bone destruction caused by excessive parathyroid hormone activity. It is common in patients with long-term kidney disease. Symptoms may include bone pain, fractures, and muscle weakness along with overly active reflexes. Bone deformities may also appear.
• Calciphylaxis: It causes severally painful skin lesions that appear due to limited blood flow. Skin lesions can sometimes look like soft mesh-pattern skin discolouration or skin nodules. Progression can result in skin death and scarring. Calciphylaxis may also involve other organs.

Health conditions like Hemochromatosis (excessive iron levels in the body) can also cause arthropathy – a general term for any disease of the joints, leading to joint swelling and pain in the hand and finger joints. The hip joint is also commonly affected, causing severe, disabling pain.

Testing for Rheumatic Manifestations of Metabolic Disease

Identifying the rheumatologic complications (problems related to joints, muscles and bones) of metabolic diseases (disorders that influence how your body converts food into energy) uses a mix of reviews by doctors, imaging studies (like X-rays or MRIs) and lab tests. Recognizing these issues properly is key for telling them apart from primary rheumatic disorders (illnesses that affect your joints and muscles) and deciding on the best treatment approach.

Flexor Tenosynovitis:

This diagnosis typically depends on physical examination. An ultrasound scan of the carpal tunnel (a passage in your wrist) can show thickening of the flexor tendon sheath (the protective cover of a tendon), surrounded by areas with no echo (which means they are filled with fluid).

Diabetic Cheiroarthropathy:

This condition is usually identified based on a physical examination and doesn’t typically need an X-ray. Important clinical tests include the prayer sign and tabletop sign, which help check for flexion contractures (an inability to fully straighten the joints) and limited joint mobility.

Adhesive Shoulder Capsulitis:

This diagnosis comes from your medical history. Sometimes, X-rays might be taken to rule out conditions with similar symptoms like fractures. An MRI can identify synovitis (inflammation of a joint lining), enlarged coracohumeral ligaments (bands of tissues that connect bones in your shoulder), and loss of fat.

Diffuse Idiopathic Skeletal Hyperostosis:

On an X-ray, this condition might show a classic sign named “flowing candle wax,” where there’s a horizontal outgrowth from the spine. MRI and CT scans are usually not needed for diagnosing it as they may confuse it with conditions that metastasize (or spread).

Charcot Neuroarthropathy:

The stages of this condition are classified according to the Eichenhotlz classification. These stages include Stage 0: normal radiography, Stage 1: bone debris at joints, fragmentation of subchondral bone (the layer of bone just under the cartilage), joint slipping out of place, or fracturing and dislocating, Stage 2: absorption of bone debris with new bone formation, joining of large parts with sclerosis (hardening) of bone ends, some increased stability, Stage 3: Remodeling (reshaping) of the affected bones and joints – reconstruction.

Carpal Tunnel Syndrome:

This is often diagnosed through specific tests. Electromyography (a test to evaluate and record the electrical activity produced by muscles) helps assess nerve damage and predict the disease’s development. Imaging is used only for ruling out structural abnormalities like tumors or ganglion cysts.

Diabetic Muscle Infarction:

The initial evaluation involves confirming the absence of deep venous thrombosis (blood clots in the deep veins of your body). Lab findings may show high levels of white blood cells, erythrocyte sedimentation rate (a type of blood test), and creatinine kinase (an enzyme found in the heart, brain, and skeletal muscle). The preferred technique for imaging to rule out other possible conditions such as abscess or myopathy (muscle diseases) is an MRI. If necessary, a biopsy (a sample of tissue taken from the body to examine more closely) may be needed after the MRI for a conclusive diagnosis.

Thyroid Acropachy:

Imaging methods may show swelling in the soft tissue and digital swelling. An X-ray may reveal new bone formation in the periosteum (a layer that covers bones).

Hypothyroid Myopathy:

The diagnosis depends on clinical findings and high inflammation markers. An MRI may be necessary for an accurate diagnosis.

Osteitis Fibrosa:

An X-ray is important for diagnosis, showing widespread demineralization (loss of mineral content) and pathological fractures in the long bones of the limbs, and a characteristic “salt and pepper” appearance in the skull. Subperiosteal bone erosions (breakdown and loss of bone), appearing as sclerotic or lytic (absence of) lesions, are seen in the distal phalanges (bones at the fingertips) and lateral middle phalanges (bones in the fingers). Long bones may appear thin and almost missing.

Calciphylaxis:

The authoritative diagnosis is a skin biopsy of the lesions (abnormal growth or patch of skin). The biopsy usually shows medial (middle) or small calcification (deposits of calcium) of dermal arterioles (small branches of arteries) with some fibrointimal hyperplasia (thickening of the arterial walls), microthrombi (small blood clots), and vascular narrowing. Doing a biopsy on the lesion may cause complications such as bleeding, infection, and necrosis (death of tissue). It has been suggested that assessing circulating (in the bloodstream) fetuin-A levels can help in evaluating calciphylaxis.

Hemochromatosis-Related Arthropathy:

The diagnosis depends on clinical manifestations and radiographic findings such as subchondral cysts (fluid-filled sacs in the bone beneath cartilage), hook-like osteophytes (bony growths or spurs) that affect more of the metacarpophalangeal joint, and symmetric (equal on both sides) loss of joint space.

Treatment Options for Rheumatic Manifestations of Metabolic Disease

If you’re dealing with rheumatic complications that stem from metabolic diseases, the go-to treatment involves an approach tailored to your specific condition. The care plan often includes measures like medication, physical therapy, and making some lifestyle changes. Surgery, however, is kept as a last resort, used mainly in severe cases or when other methods have failed to work. The ultimate aim is alleviating discomfort, improving daily function, and addressing the underlying metabolic issues that paved the way to the problem.

Dealing with Hand Flexor Tenosynovitis:

The first line of action is usually conservative, involving the use of drugs known as nonsteroidal anti-inflammatory drugs (NSAIDs) and wearing a wrist splint. If these measures don’t work, your doctor might consider injections of platelet-rich plasma or glucocorticoids. However, injectable corticosteroids are generally a no-go due to their limited effectiveness and potential ability to spike blood sugar levels in certain individuals who have uncontrolled diabetes. If the problem persists, a surgical procedure known as a Tenosynovectomy could be the option.

Managing Diabetic Cheiroarthropathy:

This condition is managed using good control of blood sugar level, physiotherapy, and occupational therapy to enhance the mobility of the hand. It’s also important to keep track of joint flexibility and function to gauge progress and make necessary changes, thereby ensuring the condition is managed correctly.

Treating Adhesive Capsulitis (Frozen Shoulder):

This condition generally clears up on its own over time. The needed treatment focuses on easing the symptoms and improving range of motion. Physical therapy is crucial during recovery, though intense rehabilitation can make matters worse. Steroid injections directly into the joint and surgery are reserved for stubborn cases.

Dealing with Diffuse Idiopathic Skeletal Hyperostosis:

The mainstay of treatment for this condition includes physical therapy, lifestyle modifications, NSAIDS, and medications called bisphosphonates, based on the severity of the disease. Surgery to decompress the affected area may be necessary in cases of fractures, spinal stenosis, and bone deformities.

Managing Charcot Neuroarthropathy:

The conservative approach to management seeks to restrict weight-bearing activities to prevent further deformation. Nonoperative methods may include off-loading with total non-weight-bearing or protective weight-bearing devices. Certain medications might be used during the acute phase. If the conservative plan doesn’t work, surgical options are considered, including procedures such as bone modification, tendon release, and fusing multiple bones together.

Treating Carpal Tunnel Syndrome:

Treatment often starts with conservative management like wearing wrist splints and taking oral NSAIDs. Steroid injections might be considered if conservative measures are ineffective. If the quality of life begins to deteriorate because of the symptoms and they are not improving with conservative management, surgery might be the way out.

How to Handle Diabetic Muscle Infarction:

This condition is managed conservatively, with bed rest and pain medications. Episodes involving the same or the other limb can happen in 21% of cases.

Approach to Thyroid Acropachy:

The options for this condition are limited. They include systemic immunosuppressive therapy and local corticosteroids, which might be considered for associated eye and skin conditions.

Managing Hypothyroid Myopathy:

The treatment is the management of hypothyroidism. Hormone replacement therapy addresses the root cause, alleviating musculoskeletal complications. Regular monitoring of thyroid function and clinical symptoms can guide adjustments to treatment, thereby optimizing patient outcomes.

Addressing Osteitis Fibrosa:

Surgery to remove the parathyroid gland is the recommended treatment. Addressing kidney disease and vitamin D deficiency can result in the regression of the characteristic brown tumors and symptoms.

Calciphylaxis Treatment:

It’s vital to control high calcium levels to manage Calciphylaxis. The use of a medication called Cinacalcet can activate vitamin D in secondary hyperparathyroidism, preventing high calcium and phosphorus levels. It’s also crucial to take good care of any wounds to avoid infections.

Dealing with Hemochromatosis-Associated Arthropathy:

Treatment of hemochromatosis doesn’t generally improve joint pain or changes seen in X-rays. Management primarily focuses on controlling iron levels through blood-letting or medication therapy to prevent further joint damage and complications in the body systems.

What else can Rheumatic Manifestations of Metabolic Disease be?

In the medical world, diagnosing rheumatic signs of metabolic diseases isn’t always straightforward. Doctors need to consider both primary rheumatic illnesses, as well as musculoskeletal disorders that can be symptoms of other systemic issues. This is often seen in conditions such as diabetes, thyroid and parathyroid disorders, and hemochromatosis. Doctors will use patient symptoms, lab results, and imaging studies to accurately identify the cause and guide treatment.

Conditions that fall under “rheumatic manifestations” and their similar conditions (or “mimics”) include:

Rheumatic Signs in Diabetes:

• Charcot joint: May look like gout, cellulitis, or osteomyelitis.
• Adhesive capsulitis: Can resemble osteoarthritis.
• Diabetic muscle infarct: Can mimic deep vein thrombosis, abscess, or cellulitis.
• Diffuse idiopathic skeletal hyperostosis: May be mistaken for ankylosing spondylitis.

Rheumatic Signs in Thyroid Diseases:

• Thyroid acropachy: Can look like rheumatoid arthritis.
• Hypothyroid myopathy: May mimic polymyositis or polymyalgia rheumatica.
• Hashimoto’s thyroiditis: Can be mistaken for rheumatoid arthritis.

Rheumatic Signs in Parathyroid Disorders:

• Calciphylaxis: Can look like vasculitis.
• Osteitis fibrosa: May be confused for malignancy, osteomalacia, or infection.

Rheumatic Signs in Hemochromatosis:

• Arthropathy: Can look like osteoarthritis or rheumatoid arthritis.

What to expect with Rheumatic Manifestations of Metabolic Disease

The outlook for patients experiencing joint problems as a result of metabolic disorders can vary widely. This variation depends on things like the specific disorder, how severe the joint issues are, and how effective treatment has been. In many situations, effectively managing the underlying metabolic disorder can significantly help improve joint symptoms and the overall outcome.

For example, some conditions like “diabetic cheiroarthropathy,” which causes stiffness in hands and fingers, might require sessions with a physiotherapist to improve movement and function.

On the flip side, some joint-related conditions can be long-lasting and worsen over time, necessitating ongoing care and monitoring. Severe cases of diseases like DISH (a disease that causes bone to grow in abnormal places) or Charcot neuroarthropathy (a condition affecting the nerves, resulting in loss of sensation, muscle weakness and problems with bone structure) can cause significant disability and reduce the quality of life.

Ultimately, the sooner the disease is diagnosed and an exhaustive treatment plan is established, the better the chances are of improving the patient’s outlook and reducing long-term complications. It’s also important for medical specialists, like rheumatologists (who treat joint diseases), endocrinologists (who treat hormonal imbalances), and others, to work closely together for the best patient outcomes.

Possible Complications When Diagnosed with Rheumatic Manifestations of Metabolic Disease

Rheumatological disorders related to metabolic diseases can be difficult to identify and manage due to their complexity and variety. One of the most common problems is that these conditions are often misdiagnosed. This misdiagnosis can lead to issues with body functionality when finally diagnosed correctly. Long-term joint damage and continuous pain can significantly decrease the patient’s quality of life.

To tackle these challenges, healthcare professionals from different specialties need to work together. This team may include rheumatologist, endocrinologists, kidney specialists (nephrologists), and brain and nervous system specialists (neurologists). They work together to provide comprehensive care that is specially tailored for each patient’s unique needs.

Common Challenges with Metabolic Disease-related Rheumatological Disorders:

• Misdiagnosis
• Functional issues at the time of correct diagnosis
• Long-term damage to joints
• Chronic pain
• Decreased quality of life

Solution:

• An interprofessional medical team
• Specially tailored comprehensive care

Preventing Rheumatic Manifestations of Metabolic Disease

To prevent joint or related issues, it’s critical to stick to the treatments set out by your doctor; these treatments primarily aim to manage underlying health issues. Specifically, for those living with Type 1 or Type 2 diabetes, maintaining blood sugar levels is key. This involves taking prescribed medications, eating a well-balanced diet, partaking in regular physical activities, and frequently checking your blood sugar levels. Special attention also needs to be paid to foot care to prevent any complications. Your doctor will talk to you about this during every appointment. Regular checks for cuts, sores or swelling, wearing suitable shoes, and refraining from walking barefoot are important.

For individuals dealing with thyroid problems, regular follow-up visits to the doctor are necessary. These visits enable the doctor to make sure your thyroid hormone levels are controlled. Correct use of thyroid replacement therapy is central to this management. Part of your treatment plan should also include learning about the noticeable signs and symptoms of joint or related issues that can be prompted by these disorders. Such symptoms include joint pain, swelling, stiffness, or changes in skin quality. By keeping conditions like diabetes, underactive thyroid, and parathyroid disorders under control, further complications can be avoided.