Connective tissue disease

Classification

1. a group of relatively rare genetic disorders affecting the primary structure of connective tissue;
2. a number of acquired conditions where the connective tissues are the site of multiple, more or less distinct immune and inflammatory reactions.

   Heritable connective tissue disorders

• Marfan syndrome - inherited as an autosomal dominant characteristic, due to mutations in the FBN1 gene that encodes fibrillin 1.
• Homocystinuria - condition of methionine metabolism brought on by a cystathionine β-synthase deficit that causes a build-up of homocysteine and its metabolites in the urine and blood.
• Ehlers–Danlos syndrome - diverse collection of disorders distinguished by the fragility of soft connective tissues and widespread symptoms affecting the skin, ligaments, joints, blood vessels, and internal organs.
• Osteogenesis imperfecta - hereditary condition marked by reduced bone mass, weakened bones, increased brittleness, and short stature.
• Alkaptonuria - inborn error of metabolism caused by mutations in the HGO gene and homogentisate 1,2-dioxygenase deficiency.
• Pseudoxanthoma elasticum - rare multisystem disease marked by gradual calcification and fragmentation of elastic fibres.
• Mucopolysaccharidosis - a class of hereditary illnesses distinguished by the excretion of mucopolysaccharide in the urine.
• Fibrodysplasia ossificans progressiva - rare and debilitating hereditary disorder characterized by progressive heterotopic ossification and congenital skeletal malformations.
• Familial osteochondritis dissecans - separation of the subchondral bone and cartilage from the surrounding tissue.
• Stickler syndrome - autosomal dominant disorder distinguished by skeletal, ocular, and orofacial abnormalities.
• Alport syndrome - hereditary kidney disease is distinguished by structural abnormalities and malfunction in the glomerular basement membrane, as well as basement membranes in other organs such as the eye and ear.
• Congenital contractural arachnodactyly - autosomal dominant disorder defined by arachnodactyly, multiple flexion contractures, abnormal pinnae, severe kyphoscoliosis, and muscular hypoplasia.
• Epidermolysis bullosa - hereditary, diverse grouping of rare genetic dermatoses that are marked by blisters and mucocutaneous fragility.
• Loeys–Dietz syndrome - autosomal dominant condition linked to a wide range of systemic manifestations, such as skeletal, cutaneous, vascular, and craniofacial abnormalities.
• Hypermobility spectrum disorder - a variety of connective tissue diseases that are marked by ongoing pain and joint hypermobility.
• Arterial tortuosity syndrome - a rare connective tissue disorder distinguished by abnormal twisting of the large arteries. Other features include marfanoid habitus, keratoconus, hypotonia, and bowel dilatations and perforations.

  Autoimmune connective tissue disorders

• Rheumatoid arthritis - autoimmune disease with an unclear cause that manifests as symmetric, erosive synovitis and, occasionally, extraarticular involvement.
• Systemic lupus erythematosus - chronic, complex autoimmune inflammatory disorder that can affect every organ in the body.
• Scleroderma and systemic scleroderma - diverse collection of autoimmune fibrosing conditions.
• Dermatomyositis and polymyositis - autoimmune myopathies that are clinically characterized by extramuscular symptoms, muscle inflammation, proximal muscle weakening, and oftentimes the detection of autoantibodies.
• Antisynthetase syndrome - multisystematic autoimmune disease associated with inflammatory myositis and interstitial lung disease.
• Vasculitis - disease that results in blood vessel inflammation.
• Sjögren syndrome - a systemic autoimmune illness that mostly affects the exocrine glands and causes mucosal surfaces, especially those in the mouth and eyes, to become extremely dry.
• Rheumatic fever - multisystem inflammatory illness that develops after group A streptococcal pharyngitis.
• Amyloidosis - uncommon condition caused by protein mutations or changes in the body that result in twisted clusters of malformed proteins accumulating on organs and tissues.
• Osteoarthritis - common articular cartilage degenerative disease linked to hypertrophic bone abnormalities.
• Thrombotic thrombocytopenic purpura - uncommon and potentially fatal thrombotic microangiopathy characterized by severe thrombocytopenia, organ ischemia connected to diffuse microvascular platelet rich-thrombi, and microangiopathic hemolytic anemia.
• Relapsing polychondritis - uncommon multisystem autoimmune disease with an unclear etiology that is marked by progressive cartilaginous tissue loss and recurring episodes of inflammation.
• Mixed connective tissue disease - systemic autoimmune disease that shares characteristics with two or more other systemic autoimmune diseases, such as rheumatoid arthritis, polymyositis/dermatomyositis, systemic lupus erythematosus, and systemic sclerosis. It is an example of overlap syndrome.
• Undifferentiated connective tissue disease - unclassifiable systemic autoimmune disorders that do not meet any of the current classification requirements for connective tissue diseases, yet have clinical and serological signs similar to connective tissue diseases.
• Psoriatic arthritis - inflammatory musculoskeletal condition linked to psoriasis.
• Cryoglobulinemia - condition sometimes associated with systemic lupus erythematosus or rheumatoid arthritis in which there are abnormal proteins in the blood.
• IgG4-related disease - chronic inflammatory condition in which there is deposition of connective tissue in different organs. Potentially life-threatening.
• Periaortitis - a group of rare vascular inflammatory diseases in which fibrous inflammatory tissue develops around the aorta or other structures such as the ureters. Sometimes associated with IgG4-related disease.