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As a syndrome, this condition is poorly defined. Diagnostic criteria require one or more antisynthetase antibodies (which target tRNA synthetase enzymes), and one or more of the following three clinical features: interstitial lung disease, inflammatory myopathy, and inflammatory polyarthritis affecting small joints symmetrically. Other supporting features may include fever, Raynaud's phenomenon and "mechanics hands"-thick, cracked skin usually on the palms and radial surfaces of the digits.
The disease, rare as it is, is more prevalent in women than in men. Early diagnosis is difficult, and milder cases may not be detected. Also, interstitial lung disease may be the only manifestation of the disease. Severe disease may develop over time, with intermittent relapses.
Degenerative disease is the result of a continuous process based on degenerative cell changes, affecting tissues or organs, which will increasingly deteriorate over time, whether due to normal bodily wear or lifestyle choices such as exercise or eating habits. Degenerative diseases are often contrasted with infectious diseases.
At least one physician associates the symptoms with tuberculosis. Some lethal overwhelming infections are reported, aggravating people who already suffer other conditions such as HIV/AIDS.
Anti-synthetase syndrome is a autoimmune disease associated with interstitial lung disease, dermatomyositis, and polymyositis.
Adult-onset immunodeficiency syndrome is a provisional name for a newly diagnosed immunodeficiency illness. The name is proposed in the first public study to identify the syndrome. It appears to be chronic and non-contagious, affecting mainly people of Asian descent aged around 50. Cases first started appearing in 2004, primarily in Thailand and Taiwan.
Symptoms vary but they mostly involve skin disorders. The signs to look for include Raynaud's phenomenon, arthritis, myositis and scleroderma.
Visual symptoms include discoloring of the skin and painful swelling.
Scleromyositis or the PM/Scl overlap syndrome is a complex autoimmune disease (a disease in which the immune system attacks the body). Patients with scleromyositis have symptoms of both systemic scleroderma and either polymyositis or dermatomyositis, and is therefore considered an overlap syndrome. Although it is a rare disease, it is one of the more common overlap syndromes seen in scleroderma patients, together with MCTD and Antisynthetase syndrome. Autoantibodies often found in these patients are the anti-PM/Scl (anti-exosome) antibodies.
The symptoms that are seen most often are typical symptoms of the individual autoimmune diseases and include Raynaud's phenomenon, arthritis, myositis and scleroderma. Treatment of these patients is therefore strongly dependent on the exact symptoms with which a patient reports to a physician and is similar to treatment for the individual autoimmune disease, often involving either immunosuppressive or immunomodulating drugs.
- Clinical characteristics:
- Overlap Syndrome: scleroderma overlap syndrome
- Autoimmune disease
- Scleroderma myositis overlap syndrome
There are examples of slowly and rapidly progressive diseases affecting all organ systems and parts of the body. The following are some examples of rapidly and slowly progressive diseases affecting various organ systems:
- Brain: Creutzfeldt–Jakob disease progresses rapidly compared to Alzheimer's disease.
- Eyes: Cataracts can be static or slowly progressive. Macular degeneration is slowly progressive, while retinal detachment is rapidly progressive.
- Lungs: Emphysema due to alpha-1 antitrypsin deficiency is a slowly progressive pulmonary disease.
- Kidneys: Goodpasture's syndrome is a rapidly progressive glomerulonephritis, while diabetic glomerulosclerosis is slowly progressive.
- Pancreas: Type 1 diabetes mellitus involves rapidly progressive loss of insulin secretory capacity compared to type 2 diabetes mellitus, in which the loss of insulin secretion is slowly progressive over many years. MODY 2, due to "GCK" mutation, is a relatively static form of reduced insulin secretion.
- Joints: Both osteoarthritis and rheumatoid arthritis are slowly progressive forms of arthritis.
- Nerves: Essential tremor is a slowly progressive neurological disorder which is usually genetically passed down.
Symptoms are similar to those in multiple sclerosis and may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment.
Riedel's thyroiditis, also called Riedel's struma is a chronic form of thyroiditis.
It is now believed that Riedel's thyroiditis is one manifestation of a systemic disease that can affect many organ systems called IgG4-related disease. It is often a multi-organ disease affecting pancreas, liver, kidney, salivary and orbital tissues and retroperitoneum. The hallmarks of the disease are fibrosis and infiltration by IgG4 secreting plasma cells.
Diffuse myelinoclastic sclerosis, sometimes referred to as Schilder's disease, is a very infrequent neurodegenerative disease that presents clinically as pseudotumoural demyelinating lesions, that make its diagnosis difficult. It usually begins in childhood, affecting children between 5 and 14 years old, but cases in adults are possible.
This disease is considered one of the borderline forms of multiple sclerosis because some authors consider them different diseases and others MS variants. Other diseases in this group are neuromyelitis optica (NMO), Balo concentric sclerosis and Marburg multiple sclerosis.
Acrodermatitis /ac·ro·der·ma·ti·tis/ is a childhood form of dermatitis selectively affecting the hands and feet and may be accompanied by mild symptoms of fever and malaise. It may also be associated with hepatitis B and other viral infections.
The lesions appear as small coppery-red, flat-topped firm papules that appear in crops and sometimes in long linear strings, often symmetric.
It is a diffuse chronic skin disease usually confined to the limbs, seen mainly in women in Northern, Central, and Eastern Europe, and characterized initially by an erythematous, oedematous, pruritic phase followed by sclerosis and atrophy. It is caused by infection with "Borrelia burgdorferi".
Chalicosis (Greek, χάλιξ, gravel), sometimes called flint disease, is a form of pneumoconiosis affecting the lungs or bronchioles, found chiefly among stonecutters.
The disease is caused by the inhalation of fine particles of stone.
The variable presentation of ROHHAD includes the following main symptoms:
- Hyperphagia and obesity by age of 10 years - (median age 3 years);
- Respiratory Manifestations:
- Alveolar Hypoventilation (median onset age 6.2 years);
- Cardiorespiratory arrest;
- Reduced Carbon Dioxide Ventilatory Response;
- Obstructive sleep apnea.
- Thermal or other hypothalamic dysregulations, with autonomic dysregulation by median age 3.6 years:
- Failed Growth Hormone Stimulation;
- Adipsic hypernatremia (inability to feel thirst to keep normal hydration);
- Hypernatremia;
- Hyperprolactinemia;
- Hyperphagia;
- Diabetes insipidus;
- Ophthalmologic Manifestations;
- Thermal Dysregulation;
- Gastrointestinal dysmotility;
- Altered Perception of Pain;
- Altered Sweating;
- Cold Hands and Feet.
- Neurobehavioral disorders;
- Tumors of neural crest origin.
Clinically overlapping cases exist because CCHS phenotype can also include autonomic nervous system dysregulation, or tumors of neural crest origin.
Giant-cell arteritis and Takayasu's arteritis have much in common, but usually affect patients of different ages, with Takayasu's arteritis affecting younger people, and giant-cell arteritis having a later age of onset.
Aortitis can also be considered a large-vessel disease.
Takayasu arteritis. Primarily affects the aorta and its main branches. At least 3 out of 6 criteria yields sensitivity and specificity of 90.5 and 97.8%:
- onset < 40 years affects young and middle -aged women (ages 15–45)
- claudication of extremities
- decreased pulsation of one or both brachial arteries
- at least 10 mmHg systolic difference in both arms
- bruit over one or both carotid arteries or abdominal aorta
- arteriographic narrowing of aorta, its primary branches, or large arteries in upper or lower extremities
- Ocular manifestation
- visual loss or field defects
- Retinal hemorrhages
- Neurological abnormalitis
- Treatment: steroids
Giant cell (temporal) arteritis. Chronic vasculitis of both large and medium vessels, primarily affecting cranial branches of the arteries arising from the aortic arch. At least 3 out of 5 criteria yields sensitivity and specificity of 95 and 91%:
- Age at onset ≥ 50 years
- New onset headache with localized tenderness
- Temporal artery tenderness or decreased pulsation
- Elevated ESR ≥ 50 mm/hour Westergren
- Temporal artery biopsy showing vasculitis with mononuclear cell infiltrate or granulomatous inflammation, usually with multinucleated giant cells
Progressive disease or progressive illness is a disease or physical ailment whose course in most cases is the worsening, growth, or spread of the disease. This may happen until death, serious debility, or organ failure occurs. Some progressive diseases can be halted and reversed by treatment. Many can be slowed by medical therapy. Some cannot be altered by current treatments.
Though the time distinctions are imprecise, diseases can be "rapidly progressive" (typically days to weeks) or "slowly progressive" (months to years). Virtually all slowly progressive diseases are also chronic diseases in terms of time course; many of these are also referred to as degenerative diseases. Not all chronic diseases are progressive: a chronic, non-progressive disease may be referred to as a "static" condition.
"Progressive disease" can also be a clinical endpoint i.e. an endpoint in a clinical trial.
The presentation may be of alopecia (baldness). Individuals vary in severity of symptoms. Nail deformities may also be present as well as hair follicle keratosis and follicular hyperkeratosis.
These conditions are sometimes considered together with the small vessel vasculitides.
Polyarteritis nodosa (PAN). Systemic necrotizing vasculitis and aneurysm formation affecting both medium and small arteries. If only small vessels are affected, it is called microscopic polyangiitis, although it is more associated with granulomatosis with polyangiitis than to classic PAN. At least 3 out of 10 criteria yields sensitivity and specificity of 82 and 87%:
- unexplained weight loss > 4 kg
- livedo reticularis
- testicular pain
- myalgias, weakness
- Abdominal pain, diarrhea, and GI bleeding
- mononeuropathy or polyneuropathy
- new onset diastolic blood pressure > 90 mmHg
- elevated serum BUN (> 40 mg/dL) or serum creatinine (> 1.5 mg/dL)
- hepatitis B infection
- arteriographic abnormalities
- arterial biopsy showing polymorphonuclear cells
Kawasaki disease. Usually in children(age<4), it affects large, medium, and small vessels, prominently the coronary arteries. Associated with a mucocutaneous lymph node syndrome. Diagnosis requires fever lasting five days or more with at least 4 out of 5 criteria:
- bilateral conjunctival injection
- injected or fissured lips, injected pharynx, or strawberry tongue
- erythema of palms/soles, edema of hands/feet, periungual desquamation
- polymorphous rash
- cervical lymphadenopathy (at least one node > 1.5 cm)
Isolated cerebral vasculitis. Affects medium and small arteries over a diffuse CNS area, without symptomatic extracranial vessel involvement. Patients have CNS symptoms as well as cerebral vasculitis by angiography and leptomeningeal biopsy.
Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome) is a very rare disease affecting approximately 75 people worldwide. Patients with ROHHAD, as well as patients with congenital central hypoventilation syndrome (CCHS) have damage to the mechanism governing proper breathing. ROHHAD syndrome is a disease that is potentially lethal and incurable. Fifteen patients with ROHHAD were evaluated by Diego Ize-Ludlow et al. work published in 2007.
Types include:
- Acrodermatitis enteropathica
- Acropustulosis
- Acrodermatitis chronica atrophicans
- Papular acrodermatitis of childhood
- Dermatitis repens
Ileitis is an inflammation of the ileum, a portion of the small intestine. Crohn's ileitis is a type of Crohn's disease affecting the ileum. Ileitis is caused by the bacterium "Lawsonia intracellularis".
Inflammatory bowel disease does not associate with "Lawsonia intracellularis" infection.
Type 1 usually begins somewhere in the first three to 18 months of age and in considered the most severe of the three types. Symptoms include:
- Coarse facial features
- Enlarged liver, spleen, and/or heart
- Intellectual disability
- Seizures
- Abnormal bone formation of many bones
- Progressive deterioration of brain and spinal cord
- Increased or decreased perspiration
Patients have no vascular lesions, but have rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated sodium and chloride excretion in the sweat, and fatal outcome before the sixth year.
Riedel's thyroiditis is characterized by a replacement of the normal thyroid parenchyma by a dense fibrosis that invades adjacent structures of the neck and extends beyond the thyroid capsule. This makes the thyroid gland stone-hard (woody) and fixed to adjacent structures. The inflammatory process infiltrates muscles and causes symptoms of tracheal compression. Surgical treatment is required to relieve tracheal or esophageal obstruction.
Zamia staggers is a fatal nervous disease affecting cattle where they browse on the leaves or fruit of cycads—in particular, those of the genus Zamia (thus the name). It is characterised by irreversible paralysis of the hind legs because of the degeneration of the spinal cord. It is caused by the toxins cycasin and macrozamin, β-glycosides (the sugars of which are glucose and primeverose, respectively) of methylazoxymethanol (MAM), and which are found in all cycad genera.
Following ingestion the sugar is removed by bacterial glycosidase in the gut, with the MAM being absorbed. The metabolized toxin produces tumours of the liver, kidney, intestine and brain after a latent period which may be a year or longer. The disease has been known in Australia since the 1860s and was the subject of a Queensland Government investigation during the 1890s.
Type 2 appears when a child is around 18 months of age and in considered milder than Type 1 but still severe. Symptoms include:
- Symptoms similar to Type 1 but milder and progress more slowly.