, Juraj Payer2 and Manfred Herold3
(1)
National Institute for Rheumatic Diseases, Piestany, Slovakia
(2)
Fifth Department of Internal Medicine, Comenius University University Hospital, Bratislava, Slovakia
(3)
Department of Internal Medicine VI, Medical University of Innsbruck, Innsbruck, Austria
Haemochromatosis (HMCH) A hereditary (autosomal recessive) disorder in which mutations of the HFE gene (a MHC class 1-type gene) causes increased intestinal iron absorption. This diagnosis should be considered in patients with early-onset osteoarthritis (especially involving the metacarpophalangeal joints) in association with the liver or other endocrine diseases. The diagnosis can now be made by genotyping for the HFE mutation in patients with very high serum iron studies. Involvement of joints is characterised by the accumulation of iron pigment causing the degeneration of articular cartilages. The disorder can be associated with the occurrence of chondrocalcinosis (CCA). The radiographic appearance can be divided into two categories:
1.
Articular calcification develops in approximately 30 % of patients. The hyaline cartilage in HMCH heavily protrudes into the joint. The fibrous cartilage in the symphysis is affected in HMCH more frequently than in CCA.
2.
Structural damage of the joints develops in almost 50 % of cases. These are similar to those seen in CCA except on the radial side of the metacarpophalangeal joints where hooky osteophytes are formed in patients with HMCH. In CCA, the 2nd and 3rd MCP joint are affected, and in HMCH, the 4th MCP joint is also involved. Treatment of the underlying disease involves regular venesection to normalise the serum iron studies, though this has little effect on the joint symptoms. Consideration should be given to screening 1st degree relatives of the patient for the disease.
Haemoglobinopathies and involvement of the locomotor organs Haemoglobinopathies are inherited disturbances of the production and function of haemoglobin. As a consequence of the gene mutation, two kinds of disturbance have been identified: deficient production of the globin chains (so-called thalassaemias), or a mismatch of the sequence of amino acid (so-called true haemoglobinopathies).
► Clinical symptoms and signs
Painful crises in the juxta-articular regions of the long bones, spine and ribs
Dactylitis
Osteonecrosis
Osteomyelitis
Gout
Haemophilia – see Musculoskeletal complication in rare inherited haemorrhagic diatheses.
Haemophilic arthropathy This can occur following repeated bleeding into the joint after microtrauma or spontaneously in patients with haemophilia, a group of related inherited bleeding disorders. Recurrent protracted bleeding can result in synovitis, haemosiderosis and functional disturbance of the joint, eventually leading to joint destruction. Bleeding into the muscles can also occur and can create a so-called haemophilic pseudotumour. The radiographic findings are characterised initially by the formation of cysts and erosions, but later the articular surfaces flatten, and sclerosis occurs at the edges and eventually leading to severe osteoarthritis. Prophylactic use of factor VIII or intensive on-demand factor VIII replacement therapy to reduce the frequency or severity of joint bleeds delays the progress of joint disease.
It is often the first sign of haemophilia and is manifested most often in children and in early adulthood.
The developing joint contracture may be worsened by periarticular and muscle bleeding (e.g. psoas major).
Repeated bleeding causes chronic arthropathy.
The disease is diagnosed based on the missing VIII or IX factor.
Therapy. The underlying disease (antihaemophilic globulin) is treated; in case of haemarthrosis, bed rest and cryotherapy are indicated, later followed by mobilisation and physiotherapy. It is necessary to avoid frequent joint punctures even if glucocorticoids may be applied intra-articularly. Synovectomy may be indicated in case of frequently recurring severe synovitis.
Anticoagulant therapy. Haemarthrosis similar to haemophilic arthropathy may also develop during longer treatment with anticoagulants.
Pigmented villonodular synovitis It often occurs following injuries in adult age.
It is located in particular in the knee and the coxal joint; the knee is swollen, and the coarsened synovial membrane resembles a foam-like structure.
In case of the coxal joint, the suspicion of the disease may be raised in ultrasound examination or during magnetic resonance imaging.
Synovial fluid is xanthochromic or bloody.
Diagnosis may be determined with the help of synovial membrane biopsy (haemosiderin depositing and presence of multinucleated giant cells). In a small number of cases, malignant transformation occurs. Therapy: subtotal synovectomy is performed, with relapses.
Hallux rigidus (stiff big toe) The big toe is stiff with marked limitation in the movement of the first metatarsophalangeal joint making the normal push off of the foot when walking is difficult. There may be a pain in the big toe.
Hallux valgum – see Toe swelling/deformity and associated diseases.
Hammer toe – see Toe swelling/deformity and associated diseases.
Hand silhouette Similarly to a palmogram, the contour of the hand with all fingers adducted and then with all fingers maximally abducted is traced; the lateral shape of the hand is also traced (the 5th finger lies on the paper). The method can be utilised for monitoring treatment targeted at the hand. For example, it is used in system sclerosis but also in other disorders of hand function.
Handicap A category expressing an irreversible loss of a certain physical or mental function that decreases the ability of the individual to assert oneself in occupation, family or other spheres of his/her social life. The IDH (impairment–disability–handicap) classification is now expanded and modified in the new ‘ICF classification’.
Hauffe’s bath A branch of hydrotherapy characterised by a gradual increase in the temperature of a bath, for example, for the feet of patients with a disturbance of macro- or microcirculation (in diabetes or systemic sclerosis), in which the sudden immersion in a hyperthermic bath would produce an undesirable initial vasoconstriction.
HBeAg Hepatitis B virus nucleocapsid antigen. Its presence in the serum is a feature of the contagious stage of the disease.
HBsAg Hepatitis B virus surface antigen.
Head’s zones In diseases of certain internal organs, regions of altered sensation appear on the skin at relevant spinal cord segments, named Head’s zones after their discoverer (Sir Henry Head, neurologist in England, 1861–1940). They can be used diagnostically and therapeutically to influence the affected organs.
Health assessment questionnaire (HAQ) – see Instruments of assessing (health status measurements, outcome measurement).
The HAQ VAS Pain Scale The HAQ Pain Scale assesses arthritis-related pain and its severity over the past week on a double-anchored 15 cm long visual analogue scale (VAS). The scale is labelled from zero (no pain) at the left anchor point and 100 (severe pain) at the right anchor point.
Improved Health Assessment Questionnaire (Improved HAQ) The Improved HAQ evolved from the original HAQ-DI and contains the same 20 items as the original HAQ-DI. The items do not contain a time frame, are written in the present tense and have five response options (without any difficulty, with a little difficulty, with some difficulty, with much difficulty, unable to do) Patients respond from 0 to 4, with 4 = worst functioning. In contrast to the HAQ-DI, items in the Improved HAQ are not grouped by physical function category. The Improved HAQ uses four questions asking about use of aids/devices or assistance. It also includes the HAQ pain and patient global health scales.
Health assessment questionnaire disability index (HAQ-DI) The HAQ-DI is a self-report functional disability measure designed to assess the patient’s usual abilities over the past week. The original HAQ-DI is the gold standard for measuring functional status in rheumatoid arthritis patients. It is composed of 20 items in eight categories (dressing and grooming, bathing, arising, reaching, eating, gripping, walking and performing errands). Each category has two or three subcategory questions. Within each category, patients report the amount of difficulty they have in performing the specific subcategory items. There are four response options (0, without any difficulty; 1, with some difficulty; 2,with much difficulty; 3, unable to do). The score for each of the eight categories is the highest score amongst the two or three activities within the category. The total physical function score is the mean of the scores for the eight categories, each with a range of 0–3. Identified are specific aids/devices utilised for assistance as well as help needed from another person. The questionnaire also includes two 10 cm visual analog scales (VASs) to assess pain and patient global estimate of status.
Health status measurements – see Instruments of assessing (health status measurements, outcome measurement).
Heat shock proteins (HSP)
They are synthesised in two ways:
1.
After induction by increased temperature or by other stress factor. These are inducible HSPs.
2.
Constantly synthesised without the effect of any stress factor called constitutive or cognitive HSPs, which are more commonly referred to as HSCs.
The production of HSPs can also be induced, by pathophysiological conditions (infections, inflammation, malignancies etc.) and immunological factors (e.g. phagocytosis, certain cytokines, free radicals, organ transplants) as well as normal physiological conditions (cell cycle, embryonic development, cell differentiation etc.). HSPs have a similar amino acid structure in the cells of different organisms, from single-celled organisms to humans. They act as chaperone proteins (attendant proteins) to protect the structure (biologically active form) of other proteins, play an important role in the protection of cells against proteotoxic agents and are involved in various immune mechanisms.
Heberden’s nodes – see Osteoarthritis – hands (Heberden and Bouchard type).
Haemarthrosis Bleeding into the joint cavity that may be confirmed by the puncture of joint synovial fluid which contains blood. The blood-containing fluid has red, pink or brown colour. If spots of fat are present, there is a high suspicion of intra-articular fracture. Haemarthrosis is clinically manifested by swelling and joint pain. Causes of bleeding into the joint can be of traumatic nature (in most cases, due to the injury to the ligament and meniscus). They also include blood clotting disorders (haemophilia), use of anticoagulant agents, neurological causes (Charcot’s joint), tumorous causes (see Pigmented villonodular synovitis) in arthritis and vascular malformations.
Haemochromatosis (HH) HH or iron storage disease is a disorder in which there is iron overload in the body. This can be due to hereditary haemochromatosis (HHC), an adult-onset inherited genetic disorder where iron metabolism is abnormal due to a defect in the HFE gene. Alternatively, it can be secondary, for instance, to disorders of erythropoiesis.
Excess dietary iron is absorbed and not excreted, becoming toxic to cells, damaging joints and impairing organ function as well as increasing the risk for conditions such as diabetes mellitus, arrhythmias, arthritis and liver cirrhosis.
Signs and symptoms include a bronze colour of the skin, chronic fatigue, joint pain and heart flutters – although 75 % of patients are asymptomatic.
Diagnosis is via the iron panel test (serum ferritin, total iron binding capacity and serum iron) and confirmed via genetic tests performed on a cheek swab.
Treatment options include therapeutic phlebotomy (blood removal) or administering an iron-chelating agent. Dietary changes can be implemented to minimise iron ingestion. Surgical procedures are used to treat complications such as end-stage liver disease.
Henoch–Schönlein purpura A leucocytoclastic vasculitis involving small vessels with deposits of immune complexes containing predominantly IgA. The disorder typically affects the skin, bowels and kidneys (glomeruli) and is associated with arthritis. It occurs predominantly in childhood, more frequently in boys. The inciting agent can be an infection, allergic reactions to medications, food, insect bite or exposition to cold. A purpuric rash on the lower extremities and/or buttocks together with swelling of the large joints is a typical presentation. Some patients suffer from abdominal pain and may have blood in the stools and micro- or macroscopic haematuria. More severe manifestations in the gastrointestinal tract (changes to the mesenteric vessels, diarrhoea) and the involvement of the central nervous system (CNS) or testicles are indications for treatment with glucocorticoids.
In tests, rheumatoid factors of IgA class are often present. A recurrent purpuric rash appears in 1/3–1/2 of patients, mostly within 6 weeks, rarely after several years. Antibiotics are usually given when concomitant infection is suspected. The prognosis depends on the extent of renal and CNS involvement. In severe forms, the administration of glucocorticoids in various forms is necessary combined immunosuppressant treatment or plasmapheresis.
Hepatitis An inflammation of the liver that can present as jaundice. It appears in multiple forms that can be infectious or chronic. Infectious hepatitis is induced by viruses and can be of several types – A, B, C (formerly non-A, non-B), D or E. The type A hepatitis (infectious jaundice) is caused by type A virus from the Picornaviridae family. It is manifested by tiredness, malaise, anorexia, disturbance of liver functions and eventually by jaundice. The disease is transmitted through food and water though the source of the infection is always a human. The virus causing type B hepatitis belongs to a group of ‘hepdna’ viruses (hepatitis DNA virus). It contains the following diagnostically significant antigens: surface HBsAg, the nuclear HBcAg and HBeAg. The infection is transmitted exclusively parenterally (via blood). The incubation period is 2–7 weeks. HBsAg is positive as early as two weeks before the onset of clinical symptoms and signs that are similar to those seen in hepatitis A. It vanishes within 6 weeks after the infection unless the disease becomes chronic. The occurrence of antibodies against HBeAg is a sign of immunity and the beginning of subsidence of the infection. The increased level of antiHBc antibodies of the IgM class indicates a new acute infection. AntiHBs antibodies appear in the course of several months after the fade-out of HBsAg and are a sign of acquired immunity. The most at-risk groups for contracting hepatitis B are health professionals, haemodialysis patients, haemophiliacs, drug addicts and homosexuals. Hepatitis C is caused by an RNA virus that is often transmitted parenterally mainly upon blood transfusions, less frequently via infected needles in drug addicts or via sexual intercourse. The disease has a milder course than hepatitis A or hepatitis B.
Chronic hepatitis The inflammation of the liver lasts longer than 6 months and includes a heterogeneous group of liver diseases with typical inflammatory infiltrations, necrosis of hepatocytes and signs of regeneration processes as well as fibrosis, but without the signs of a cirrhotic transformation. They include viral hepatitides such us hepatitis B, C and D, autoimmune hepatitis, primary biliary cirrhosis, primary sclerosing cholangitis and some overlapping syndromes whose diagnostic, histological or clinical signs are typical for different nosological diseases classified under chronic hepatitis.
Heterobispecific antibodies These are monoclonal antibodies that are not produced during normal immune responses. They can be prepared by hybridoma technology or by gene engineering methods. They possess two binding sites with different specificities (each binds a different epitope).
Heterocytotropic antibodies These are antibodies of a particular animal species, which also have a high affinity for the Fc-receptors of cells of another animal species.
High-intensity laser therapy (HILT) High-intensity laser therapy (HILT) is a therapeutic treatment method that involves higher-intensity laser radiation and emission.
These pulses penetrate into the deepest muscle and bone layers without damaging soft tissues and thus ensure maximum concentration of pulses in the targeted structure. During an application, the muscles are heated and their tone is reduced resulting in the cessation of the pain. Short impulse length and the very high intensity trigger a series of biological signals that promote tissue mending and regeneration processes. High-intensity laser therapy (HILT) is an effective treatment for sports injuries, muscle overuse and tendon strains and post-traumatic pathology (such as swelling, inflammation or pain) in arthritis and periarticular structures.
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