An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.

Joint pain.

Pain in muscle.

A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).

Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.

Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.

The presence of chronic increased pressure in the systemic arterial system.

Increased pressure in the portal vein.

An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.

Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.

Inflammation of blood vessel.

Extreme dilation of the submucusoal veins in the lower portion of the esophagus.

Abnormally increased size of the liver.

Simultaneous enlargement of the liver and spleen.

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.

Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.

A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.

A reduction in erythrocytes volume or hemoglobin concentration.

An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).

Increased numbers of platelets in the peripheral blood.

A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.

Inflammation of a joint.

A recurrent form of sinusitis.

Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.

An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

An abnormal increase in the number of leukocytes in the blood.

An abnormal decreased number of leukocytes in the blood.

A reduced number of lymphocytes in the blood.

Inflammation of subcutaneous adipose tissue.

Abnormal increased size of the spleen.

Increased susceptibility to infections.

Enlargment (swelling) of a lymph node.

Hashimoto's disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. Hashimoto's disease is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones.\n\nOne of the first signs of Hashimoto's disease is an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. As damage to the thyroid continues, the gland can shrink over a period of years and the goiter may eventually disappear.\n\nOther signs and symptoms resulting from an underactive thyroid can include excessive tiredness (fatigue), weight gain or difficulty losing weight, hair that is thin and dry, a slow heart rate, joint or muscle pain, and constipation. People with Hashimoto's disease may also have a pale, puffy face and feel cold even when others around them are warm. Affected women can have heavy or irregular menstrual periods and difficulty conceiving a child (impaired fertility). Difficulty concentrating and depression can also be signs of a shortage of thyroid hormones.\n\nHashimoto's disease usually appears in mid-adulthood, although it can occur earlier or later in life. Its signs and symptoms tend to develop gradually over months or years.

Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.

An abnormally decreased level of immunoglobulin in blood.

Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.

A red eruption of the skin.

Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

Body temperature elevated above the normal range.

An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.

Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

Periodic (episodic or recurrent) bouts of fever.

An abnormal elevation of the C-reactive protein level in the blood circulation.

Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal.

Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.

Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.

Purpura (from Latin

A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.

A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.

An induration (hardening) of the skin

A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.

Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.

Paralysis of one or more extraocular muscles that are responsible for eye movements.

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.