Differential Diagnosis Immunologic Disorders. Organs of the Immune system Tonsils Thymus gland Lymph...

Differential Diagnosis

Immunologic Disorders

Organs of the Immune system

Tonsils Thymus gland Lymph nodes Bone marrow Spleen Peyer’s patches (Intestinal lymph tissue)

Immune system disorders

Due to dysfunction of immune response mechanism

Causes overresponsiveness or blocked, misdirected or limited responsiveness to antigens

Many immune system disorders are genetically linked

Immunodeficiency Immune system is compromised Commonly seen after chemotherapy

Hypersensitivity Autoimmunity

Immune system fails to recognize self from nonself and misdirects immune system against the body’s own tissue

Immunoproliferative Abnormal reproduction or multiplication of

cells of the lymphoid system



Generalized weakness in the absence of muscle disease is a common symptom

Nail bed changes are indicative of inflammatory disease

Source of joint swelling must be distinguished as articular (arthritis), periarticular (tenosynovitis), involving an entire limb (lymphedema) or occurring in another area (lipoma or tumor)

Neurologic disorders

Many neurologic disorders display features of immune dysfunction, including: Myasthenia gravis Guillain-Barre Multiple sclerosis ALS Acute disseminated encephalomyelitis

Myasthenia Gravis

Antibodies block receptors for Acetylcholine in muscles, leading to impaired muscle function

2 major peak onset times 20-30 years old (Women > Men) > 50 years old (Men > Women)

Myasthenia Gravis

Muscle weakness and fatigue Especially noted in the eyes, chewing,

swallowing and facial expression Worse with superimposed illness, menses and

warm air temperature Proximal > Distal – results in difficulty with

stairs, rising from a chair, combing hair and holding up the head

Muscle most affected are the cranial muscles, neck muscles, respiratory muscles and proximal limbs

No muscle atrophy or loss of sensation

Guillain-Barre Syndrome

A demyelinative disease of the peripheral nervous system, especially spinal nerves

Occurs after infectious illness, upper respiratory infection, vaccinations or viral infection such as measles, hepatitis or mono

Infection commonly precedes onset of symptoms by 1-3 weeks

Characterized by abrupt onset of paralysis Affects any age, sex or race


The immune system attacks its own myelin cells, because they look similar to the infection virus

Paralysis is usually symmetrical Affects LE UE respiratory muscles

(distal to proximal) Weakness and paralysis is sometimes

preceded by paresthesia and numbness Progression and severity of paralysis varies


Symptoms progress over 1-3 weeks, plateaus, then spontaneous improvement and recovery begin (May take 6-9 months)

Cranial nerves, especially the facial nerve, may be involved

Patients may have weak DTRs early in the course of the illness

Multiple Sclerosis

Most common demyelinating disease of the CNS – spares the peripheral nerves

Usually appears 20-40 years of age, with peak onset at 30

Women 2X > Men More prevalent in colder climates than

tropical areas

Multiple Sclerosis

Characterized by lesions throughout the CNS These lesions later form scars (plaques) Especially concentrated in the optic nerves,

cerebrum and cervical spinal cord When edema and inflammation subside,

some remyelination occurs, but often is incomplete

Axonal injury may cause permanent neurological dysfunction

Death is usually due to respiratory or urinary infections

Multiple Sclerosis

Symptoms vary depending on location of lesions

May experience extremity weakness Spasticity and hyperreflexia are common Fatigue and dysmetria (intention tremors) Urinary and/or bowel/bladder dysfunction are

common Optic neuritis (unilateral visual impairment) is

often the 1st symptom Warm temperatures worsen symptoms

Autoimmune disorders

Inability to distinguish self from nonself Immune system directs immune responses

against normal “self” tissue Antibodies are manufactured against the

body’s own cells and organs Implicated causes include genetics, sex

hormones, viruses, stress, cross-reactive antibodies, altered antigens and environment

May be organ specific or generalized (systemic)

Systemic Autoimmune disorders

Fibromyalgia Rheumatoid Arthritis Systemic Lupus Erythematosus Scleroderma Spondyloarthropathy

Ankylosing spondylitis Reiter’s syndrome Psoriatic arthritis Lyme disease

Fibromyalgia

Noninflammatory condition Characterized by generalized

musculoskeletal pain and tenderness to palpation of specific points

Women > Men Preadolescents to early postmenopausal,

rare in older adults Possible genetic predisposition Dysregulation of the neurohormonal and

autonomic nervous systems

Fibromyalgia vs. Myofascial Pain

Myofascial Pain Fibromyalgia Syndrome Syndrome

Fibromyalgia Tender Points

Pain in 11 of the 18 Tender Points with palpation by definition

Fibromyalgia

Widespread pain ( > 3 months) Widespread local tenderness Fatigue Morning stiffness Sleep disturbances Muscle spasms or nodules Aggravated by cold, stress, excessive or no

exercise and physical activity

Rheumatoid Arthritis

Chronic, systemic, inflammatory disorder of unknown cause

Affects various organs – predominantly the synovial tissues of the diarthroidal joints

Women >> Men Can occur at any age, but most common

between 20 and 40 years old


Malaise, fatigue and diffuse musculoskeletal pain are common initial symptoms

Pain, tenderness, swelling and redness localize to specific joints

Gel phenomenon – Prolonged stiffness (>1hr) which is relieved with activity, but recurs with prolonged posture throughout the day

Bilateral and Symmetrical joint structural damage – hands, wrists, elbows, and shoulders


DIP involvement is rare Limited ROM is common Wrist deformities include flexion, pronation,

radial or ulnar deviation, palmar subluxation of the carpals and dorsal subluxation of the ulnar head

MCP deformities are increased ulnar drift and palmar subluxation

Arthritic changes

Swan neck deformity – Flexion of the MCP and DIP with hyperextension of the PIP Due to contracture of the intrinisic muscles or

tearing of the volar plate Commonly seen with RA

Boutonniere deformity – Extension of the MCP and DIP with flexion of the PIP Due to rupture of the central tendinous slip of

the extensor hood Commonly seen with RA

Swan neck deformity

Boutonniere deformity


Foot deformities include subluxation of the MTP heads and foreshortening of the extensor tendons Hammer toe Cock up deformities

Cervical spine involvement Stiffness Atlantoaxial subluxation

Systemic Lupus Erythematosus

Chronic systemic inflammatory disease characterized by injury to the skin, joints, kidneys, heart and blood forming organs, nervous system and mucous membranes

Red, butterfly rash Discoid – Skin only affected Systemic – More severe and can affect

almost any organ or system of the body


Common age of presentation is 15-40 years, rarely occurs in older people

Women 10-15X > Men Arthralgias and arthritis are the most common

manifestations Hands, wrists and knees are symmetrically involved Rarely directly affects the spine Peripheral neuropathies are common Frequently c/o numbness of the tip of the tongue and

inside the mouth Decrease in distal limb reflexes

Scleroderma

Characterized by inflammation and fibrosis of many body parts

Affects skin, blood vessels, synovium, skeletal muscle, kidneys, lungs, heart and GI tract

Can occur in individuals of any age, race or sex

Most common in young or middle-age women (age 25-55)

Scleroderma

Hallmark signs Raynaud’s phenomenon Tight skin

Arthralgia, stiffness and arthritis Mild muscle weakness, tenderness and pain Progresses to atrophy, deconditioning and

flexion contractures Esophageal hypomotility – very common Intestinal hypomotility intermittent diarrhea,

bloating, cramping, malabsorption and wt loss

Scleroderma

Spondyloarthropathy

A group of noninfectious, inflammatory, erosive diseases

Not seropositive for rheumatoid factor Men > Women Includes:

Ankylosing spondylitis Reiter’s syndrome Psoriatic arthritis Lyme disease

Ankylosing Spondylitis

Inflammation of fibrous tissue which affects the insertions of ligaments and capsules into bone

Primarily affects the SI joints, spine and large peripheral joints

Accompanied by fever, fatigue, loss of appetite, and redness and pain of the eyes

Classic presentation is insidious onset of mid to LBP > 3 months


Usually worse in the morning and lasts > 1 hr Pain described as achy or “jolting” Localized to the pelvis, buttocks, and hips Often confused with sciatica, but neurological

exam will be negative with AS Progressively decreasing ROM Vertebral bridging is evident on X-ray Spinal column appearance is referred to as

“bamboo spine” in late stages


Uveitis, conjunctivitis or iritis Pulmonary changes may be confused with TB Cardiovascular complications include cardiomegaly,

conduction defects and pericarditis Spinal fractures with minor trauma are common –

Most common lower C-Spine Atlantoaxial subluxation – Present with severe neck

or occipital pain with referral to the retroorbital or frontal area

Cauda equina syndrome is a late manifestation Spinal stenosis pain and numbness of LEs, worse

with walking, relieved by rest

Reiter’s Syndrome

AKA Reactive arthritis Characterized by a triad of arthritis,

conjunctivitis, and nonspecific urethritis Primarily men aged 20-40 Symptoms begin acutely 2-4 weeks after

venereal infections or gastroenteritis Distal joints are prominently affected Radiologic changes of the SI joints and spine

are asymmetric

Reiter’s Syndrome

Arthritic changes are most common to the weight bearing joints of the LEs

Affected joints are warm, tender, edematous and painful with active or passive ROM

Septic joints – identified by dusky-blue discoloration or frank erythema accompanied by severe tenderness

Heel pain – frequent distinctive and disabling manifestation. Due to enthesitis of the plantar aponeurosis and Achilles tendon on the calcaneus

Psoriatic Arthritis

Distinct disease that combines features of RA and spondyloarthropathies

Affects both sexes equally Women – Symmetric polyarthritis Men – Spinal involvement

Usually occurs at age 20-30 years Onset is usually preceded by psoriasis Skin lesions and nail lesions are common

Psoriatic Arthritis

Psoriatic Arthritis

Severe arthritic changes occur early in the disease Distal Proximal (DIP joints included) Arthritis mutilans

Pain and stiffness with morning stiffness > 30 minutes. Aggravated by immobility, reduced with physical activity

Pain with stress on the joints Joint line is tender Joint effusion is present Dactylitis – “Sausage fingers”

Dactylitis

References “Ankylosing Spondylitis”. Retrieved 6/22/08 from the World Wide Web. http://

www.spondylitis.org/about/as.aspx Braunstien BL, Provost TT. 1988.Cutaneous Medicine. In: The Principles and Practice of

Medicine. 22nd edition. Harvey, et al editors. Norwalk, CT. Appleton & Lange. p1211-1212. Goodman CC, Snyder TE. 2007. Screening for Immunologic Disease. In: Differential

Diagnosis for Physical Therapists Screening for Referral. 4th edition. St. Louis, MO: Saunders Elsevier. p517-557.

Goodman CC, Snyder TE. 2000. Overview of Immunologic Signs and Symptoms. In: Differential Diagnosis in Physical Therapy. 3rd edition. St. Louis, MO: Saunders Elsevier. p405-406.

Psoriatic Arthritis. Retrieved 6/4/07 from the World Wide Web. http://www.hopkins-arthritis.org/arthrtitis-info/psoriatic-arthritis/clinical-manifestation.html.

Rubin E, Farber JL. 1999. Pathology. 3rd edition. Philadelphia, PA: Lippincott Williams & Wilkins p693. In: Porth editor: Pathophysiology Concepts of Altered Health States, 6th edition. Philadelphia, PA: Lippincott Williams & Wilkins, p839.

Scleroderma. Retrieved 06/22/08 from the World Wide Web. http://www.scleroderma.org/.../scleroderma-hand_jpg.htm

Swanson AB. 1995. Pathogenesis of Arthritic Lesions. In: Rehabilitation of the Hand: Surgery and Therapy, Volume 2. 4th edition. Philadelphia, PA: Mosby. P1307-1313.

Swanson AB. 1995. Pathomechanics of Deformities in Hand and Wrist. In: Rehabilitation of the Hand: Surgery and Therapy, Volume 2. 4th edition. Philadelphia, PA: Mosby. P1315-1327.

Differential Diagnosis Immunologic Disorders. Organs of the Immune system Tonsils Thymus gland Lymph...

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