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Delayed Puberty in Boys

Drawing of Biopsy Showing Muscle Fibers Invaded by Immune Cells. Courtesy MDA.org
Drawing of Biopsy Showing Muscle Fibers Invaded by Immune Cells. Courtesy MDA.org

What Is Polymyositis?

P olymyositis is a body-wide connective tissue disease resulting from autoimmune attack of skeletal muscles that is characterized by inflammatory and degeneratory changes. The course is unpredictable being marked by spontaneous flare-ups and remissions.

Polymyositis can begin slowly or abruptly according to the factor that is triggering the onset such as infection, medications like phenytoin, and autoimmune disease.

Progressive muscle weakness starts in the proximal skeletal muscles (muscles closest to the trunk of the body).

Skeletal muscles, also called voluntary, are muscles that move the body as we want, such as walking and  lifting objects, as opposed to those we cannot voluntarily control, such as the muscles of digestion. 

Q: What are the degeneratory changes in skeletal muscles?

A: In polymyositis, degeneratory changes in skeletal muscles means that muscles are being destroyed (called necrosis), resulting in fibrosis, or scarring. When scar tissue takes the place of lost muscle tissue, it cannot act like muscle to contract and relax.   Muscle destruction is what causes muscle pain and weakness.

After the clinical work-up of exams and blood studies to determine muscle damage, the diagnosis of polymyositis is confirmed by muscle biopsy. See image at above left. The black dots are inflammatory cells. Edema (fluid) between cells caused by inflammation pushes muscle fibers apart.

There is no cure for polymyositis, but the symptoms can be treated.  Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest.  The standard treatment for polymyositis is a corticosteroid drug, given either in pill form or intravenously.  Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. 

Periodic treatment using intravenous immunoglobulin can also improve recovery.  Other immunosuppressive agents used to treat the inflammation associated with polymyositis include cyclosporine A, cyclophosphamide, and tacrolimus.  Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion.1

Diagnosis is based on elevated muscles enzymes, increased urinary creatine level, and electromyograph abnormalities.

Polymyositis can affect people at any age. It is most common in adults between ages 50 and 70, and in children ages 5 to 15. It affects women twice as often as men and is more common in African Americans than Caucasians.2 The major causes of death from polymyositis are cancer and lung disease, including pneumonia.  The 5-year mortality rate can be as high as 1 in 5 patients.2

What Is Polymyositis In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. National Institute of Neurological Disorders and Stroke [↩]
  2. http://www.nlm.nih.gov/medlineplus/ency/article/000428.htm [↩] [↩]

Antiphospholipid Syndrome

Testing Thigh Strength. Courtesy Charlie Goldberg, M.D., UCSD School of Medicine
Testing Thigh Strength. Courtesy Charlie Goldberg, M.D., UCSD School of Medicine

What Is Hypophosphatemia?

H ypophosphatemia means the level of phosphates in the bloodstream is too low to meet metabolic needs of the body for this mineral.

Q: How important is phosphorus in metabolism?

A: Phosphorus is crucial to  life, being present in every cell of the body and constitutes 45% of skeletal bone weight along with 40% calcium needed to support the body as a framework.

A low blood phosphate level is characterized by alterations in blood acid-alkaline balance and serious neuromuscular, hematologic, renal, skeletal, and dental abnormalities.

Symptoms result primarily from decreased production of adenosine triphosphate (ATP), the main energy source in cells, and phosphocreatine, a secondary energy source for muscle contraction.

  • Acute phosphorus deficiency may precipitate rhabdomyolysis which is destruction of muscle.
  • Nervous system dysfunction is observed in severe hypophosphatemia.
  • Chronic phosphorus deficiency causes proximal myopathy (upper arms and thighs).1
  • Severe phosphorus deficiency has widespread and ultimately fatal consequences.

What Is Hypophosphatemia In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Takeda E, Ikeda S, Nakahashi O. Lack of phosphorus intake and nutrition. Clin Calcium. 2012 Oct;22(10):1487-91. [↩]

Arthritis, Enteropathic

Classic Dermatitis Herpetiformis
Classic Dermatitis Herpetiformis

What Are Autoimmune Disorders?

A utoimmune disorders refer to those conditions that involve an abnormal attack on the body’s own tissues perpetuated by the production of autoantibodies directed against self.

Q: What happens when autoantibodies attack the body’s own tissues?

A: This abnormal immune activity by autoantibodies causes inflammation and damage to targeted body tissues.

Dermatitis herpetiformis is a skin manifestation of celiac disease characterized by extremely itchy blisters that commonly erupt on forearms and knees but may appear on the face, scalp or buttocks.

Autoimmune diseases as a group affect approximately 8.5% of people worldwide.

What Are Autoimmune Disorders In Dermatitis Herpetiformis?

Abscess Formation Causing Lung Cavities

Bristol Stool Chart Showing Normal and Abnormal Stool.
Bristol Stool Chart Showing Normal and Abnormal Stool.

What Is Chronic Constipation Alternating With Diarrhea?

C hronic constipation alternating with diarrhea is an intestinal motility disorder, or irregularity, characterized by alteration in stool formation, consistency, and evacuation which results in a bowel movement that consists of some hard or balled stool along with some loose stool that can cause leakage.

Q: How do irregular movement patterns develop in the colon?

A: The colon produces irregular movements as a result of problems that originate in  the colon (large intestine) itself and/or the small intestine which then affects function of the colon.

Here are listed the many types of problems or diseases that cause these abnormal bowel movements:

  • Disorders that adversely affect the colon, an organ which must propel stool, remove excess water, absorb electrolytes, ferment undigested food material that passes into it, and produce nutrients from the fermentation process:
  • Poor diet that does not contain adequate nutrition, fiber, probiotics, prebiotics, and water to form normal stool.
  • Diet that contains irritating, toxic or allergenic food that cause spasms.
  • Diseases that inflame the mucosa lining such as collagenous colitis, altering the proper absorption of water and electrolytes.
  • Diseases that damage and swell the colon walls, such as Crohn’s disease, ulcerative colitis, and diverticulitis.
  • Diseases that obstruct the lumen or passageway so that stool passes with difficulty.
  • Diseases that hamper normal peristalsis (muscle action), such as irritable bowel syndrome (IBS), diabetes and thyroid disease.
  • Disorders that adversely affect the small intestine, an organ which must digest and absorb nutrients needed by the body while passing unabsorbed food material to the colon:  
  • Diet that conatins too much fat, sugar or artifical sweeteners, causing diarrhea.
  • Disorders that result in malabsorption, such as gluten enteropathy, milk enteropathy, steatorrhea (fat malabsorption), lactose intolerance, sucrose intolerance, maltose intolerance, and bacterial overgrowth, passing abnormal amounts of undigested food material to the colon where it is fermented producing excessive gas, diarrhea and spasm.
  • Disorders that impair peristalsis, such as active celiac disease, diabetes, scleroderma, and thyroid disease.
  • Tumors like cancer and lymphoma impair regular passage of material to colon.
  • Drugs that impair peristalsis, such as iron supplements, aluminum containing antacids, narcotics, some anti-depressants, some anti-seizure, and some diuretics.

What Is Chronic Constipation Alternating With Diarrhea In Celiac Disease and/or Gluten Sensitivity?

Coronary Artery Disease

Image on left shows how atherosclerosis impedes blood flow through coronary arteries while blood clots block blood flow. Courtesy Google.
Figure on right shows how atherosclerosis impedes blood flow through coronary arteries while blood clots block blood flow. Courtesy Google.

What Is Coronary Artery Disease (CAD)?

Coronary artery disease (CAD), also called ischemic heart disease, is a gradual narrowing of medium and large arteries of the heart by fatty buildups, called atherosclerotic plaques.

It is characterized by slowly developing interference with blood flow to heart tissue itself, resulting in oppressive chest pain called angina and, ultimately, thrombosis (clot) causing heart attack.  

The heart is a muscular organ that is working all the time, so it needs a constant supply of oxygen. Oxygen is brought to the working heart tissue by the coronary arteries with each beat of the heart. When heart muscle has to work harder, it needs more oxygen delivered to itself. Lack of oxygen causes pain.

In fact, failure of diseased coronary arteries to deliver adequate oxygen to heart tissue is the most common cause of angina pectoris – substernal pain (under breastbone) or pressure brought on by exertion and relieved by rest. 

Thrombosis, or clot formation, occurs when blood cells within a narrowed artery can no longer get through. Trapped, blood cells pile up and block the artery thus triggering a cascade of events called heart attack. Coronary arteries that are narrowed by atherosclerotic plaques can rupture causing injury to the coronary blood vessel resulting in blood clotting which blocks the flow of blood to the heart muscle. Blood clots may form, partially dissolve, and later form again and angina can occur each time a clot blocks blood flow in an artery.1

Q: How does coronary artery disease develop?

A: Coronary artery disease slowly develops from this combination of events:

  • Dysfunction of epithelial cells that line the inside of arteries cause the vessels to stiffen, and subsequently

  • Accumulation of lipid (fat) in smooth muscle cells beneath the inside lining of arteries and in foam cells cause buildup of fatty deposits on the inside walls progressing to fibrous plaque formation.

Oxidized low-density lipoprotein (oxLDL), so-called bad cholesterol, and oxysterols play important roles in the development of  atherosclerosis. OxLDL triggers the immune system to produce autoantibodies against oxLDL that are detectable in serum. These antibodies are called anti-oxLDL. Anti-oxLDL antibody and oxysterol concentrations are associated with coronary artery stenosis. Oxidative stress may be greatly increased in unstable angina.2 and Chronic inflammation in the general population is a major risk factor for ischemic heart disease.

The pathophysiology of atherosclerosis is, clearly, different in women when compared to the men. The women have a higher risk of blood coagulability making them at high risk for the blood clot formation. In a large number of women endothelial dysfunction, small vessel size and diffuse atherosclerosis have been identified as causes of ischemia without evidence of blockade in the coronary arteries.3

Also, atherosclerotic plaque in women is less fibrotic and contains more lipid filled foam cells, implying greater potential for reversibility but also potentially greater vulnerability for plaque rupture and thrombosis.4

Who is Affected in the General Population?

  • Coronary artery disease remains the leading cause of death in developed countries despite significant progress in primary prevention and treatment strategies.

  • It is the leading cause of death in women, as well as an important cause of disability.

  • Older patients are at particularly high risk of poor outcomes following acute coronary syndrome.5

What Is Coronary Artery Disease In Celiac Disease and/or Gluten Sensitivity?

Ischemic heart disease is the leading cause of death in the United States, making cardiovascular risk assessments and potential interventions or treatments imperative for patients with celiac disease.6

Sources:
  1. http://www.heart.org/HEARTORG/Conditions/HeartAttack/SymptomsDiagnosisofHeartAttack/Unstable-Angina_UCM_437513_Article.jsp# [↩]
  2. Yasunobu Y, Hayashi K, Shingu T, Yamagata T, Kajiyama G, Kambe M. Coronary atherosclerosis and oxidative stress as reflected by autoantibodies against oxidized low-density lipoprotein and oxysterosis. Atherosclerosis. Apr 2001;155(2):445-53. [↩]
  3. Kunadian V, Ford GA, Bawamia B, Qiu W, Manson JE. Vitamin D deficiency and coronary artery disease: A review of the evidence. Am Heart J. 2014 Mar;167(3):283-291. doi: 10.1016/j.ahj.2013.11.012. Epub 2013 Dec 19. [↩]
  4. Kunadian V, Ford GA, Bawamia B, Qiu W, Manson JE. Vitamin D deficiency and coronary artery disease: A review of the evidence. Am Heart J. 2014 Mar;167(3):283-291. doi: 10.1016/j.ahj.2013.11.012. Epub 2013 Dec 19. [↩]
  5. Kunadian V, Ford GA, Bawamia B, Qiu W, Manson JE. Vitamin D deficiency and coronary artery disease: A review of the evidence. Am Heart J. 2014 Mar;167(3):283-291. doi: 10.1016/j.ahj.2013.11.012. [↩]
  6. Robinson BL, Davis SC, Vess J, Lebel, J. Primary care management of celiac disease. Nurse Practitioner. February 2015: Vol 40 – Issue 2; 28–34. [↩]

Blepharitis, Non-Infectious (Swollen Eyelids)

This is a stained liver biopsy sample showing advanced cellular changes in non-alcoholic fatty liver disease. Blue is fibrosis. White is fat accumulation in degenerated cells. Courtesy of Nephron's work.
This is a stained liver biopsy sample showing advanced cellular changes in non-alcoholic fatty liver disease. Blue is fibrosis. White is fat accumulation in degenerated cells. Courtesy of Nephron’s work.

What Is Non-Alcoholic Fatty Liver Disease?

N on-alcoholic fatty liver is a non-inflammatory liver disorder characterized by degenerative changes in the liver caused by excessive accumulation of lipid (fat) in hepatocytes (liver cells) that is called free fatty acid-generated lipotoxicity.

Non-alcoholic fatty liver shows an increase in liver enzymes called transaminases.

Q: What are the enzymes that increase?

A: The transaminases that increase are ALT and AST. ALT is the abbreviation for alanine aminotransferase enzyme and AST is the abbreviation for aspartate aminotransferase enzyme. They are commonly measured in blood tests to determine liver function and when elevated indicate inflammation.

What Is Non-Alcoholic Fatty Liver In Celiac Disease and/or Gluten Sensitivity?

Congenital Anomalies 

Hangnail on lowest finger. Courtesy Wikipedia.org
Hangnail on lowest finger. Courtesy Wikipedia.org

What Is Hangnail?

H angnail is a broken strip of epidermis (piece of skin) at root or lateral (side) edge of fingernail or toenail that causes sharp pain.

A hangnail develops because the skin around the nail is unhealthy due to inadequate nutrition. Injury from trauma including biting the skin and pushing back the cuticles or exposure to excessive detergents and water that remove protective oils promote the development of hangnail.

All ages and both sexes can be affected.

Q: Can a hangnail become infected?

A: Infection, called paronychia, may develop from invasion of sore skin by any of these pathogens: bacteria, fungus, or yeast (Candida). Infected skin is red, swollen, and painful. Topical ointment is required to treat the infection.1

What Is Hangnail In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. www.nlm.nih.gov/medlineplus/ency/article/001444.htm [↩]

Spina Bifida 

pityriasis rubraWhat Is Pityriasis Rubra Pilaris?

P ityriasis rubra pilaris (PRP) is a chronic generalized exfoliative dermatitis (sloughing skin) characterized by erythema (redness), scaling, dilated plugged hair follicles, and keratoderma (thickened skin) of the hands and feet that is often associated with anemia and low serum albumin.

It may manifest either as Type I classical adult onset PRP, Type II atypical adult (onset) PRP, or Type VI PRP (HIV-associated PRP pityriasis rubra pilaris) in contrast to classical juvenile (Type III) and circumscribed juvenile (Type IV) encountered among children.1

Q: Who is affected in the general population?

A: All ages are affected. Pityriasis rubra pilaris occurs all over the world but with racial variations – it is 1 in 5,000 in Great Britain and 1 in 50,000 in India.2

What Is Pityriasis Rubra Pilaris In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Sehgal VN, Srivastava G, Dogra S. Adult onset pityriasis rubra pilaris. Indian J Dermatol Venereol Leprol. 2008 Jul-Aug;74(4):311-21. [↩]
  2. Sehgal VN, Srivastava G, Dogra S. Adult onset pityriasis rubra pilaris. Indian J Dermatol Venereol Leprol. 2008 Jul-Aug;74(4):311-21. [↩]

Failure To Thrive And Growth Retardation

Hyde's Prurigo. Courtesy quizlet.com
Hyde’s Prurigo. Courtesy quizlet.com

What Is Prurigo Nodularis (Hyde’s Prurigo)?

P rurigo nodularis is a chronic dermatitis characterized by hard, dry, deep seated, intensely itchy papules (small bumps like pimples) and/or nodules (large bumps) that erupt most commonly on the arms, legs, and back.

Papules and nodules vary in number and may become infected after picking or scratching.

Q: Does the itching go away?

A: New nodules develop from time to time, and existing nodules may remain itchy indefinitely, although some may regress spontaneously and leave scars. In most cases, the disease runs a very protracted course with exacerbations and remissions.1

Prurigo nodularis is an unusual disorder of unknown etiology, which is notoriously resistant to therapy. A variety of systemic conditions have been reported to be associated with prurigo nodularis. However, the mechanism by which these disorders may trigger prurigo nodularis is unknown.2

It has been shown to be associated with malnutriton and infection such as tonsillitis, which resolved after removal of tonsils.3

What Is Prurigo Nodularis In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Katotomichelakis M, Balatsouras DG, Bassioukas K, Kontogiannis N, Simopoulos K, Danielides V. Recurrent prurigo nodularis related to infected tonsils: a case report. J Med Case Rep. 2008 Jul 24;2:243. doi: 10.1186/1752-1947-2-243. [↩]
  2. Lee MR, Shumack S. Prurigo nodularis: a review. Australas J Dermatol. 2005 Nov;46(4):211-18; quiz 219-20. [↩]
  3. Katotomichelakis M, Balatsouras DG, Bassioukas K, Kontogiannis N, Simopoulos K, Danielides V. Recurrent prurigo nodularis related to infected tonsils: a case report. J Med Case Rep. 2008 Jul 24;2:243. doi: 10.1186/1752-1947-2-243. [↩]

Osteopenia In Childhood 

sclerodermaWhat Is Scleroderma?

S cleroderma is a chronic skin manifestation of progressive systemic sclerosis characterized by generalized thickened, edematous skin firmly bound to subcutaneous tissue which causes limited movement.

Systemic sclerosis a connective tissue disease that involves destructive changes in the skin, blood vessels, muscles, and internal organs. The course can be mild or it can be fatal. Cardiopulmonary complications from fibrosis are the most common cause of death.

Gastrointestinal problems mainly due to fibrosis affect 50 to 90% of patients.1

Q: Is there a cure for scleroderma?

A: There is no cure for scleroderma. Treatment is aimed at improving symptoms.

  • Heartburn (acid reflux) can be treated with antacid drugs.
  • Scleroderma kidney disease can be treated with blood pressure medications called “angiotensin converting enzyme inhibitors” (ACE inhibitors). These can often effectively control kidney damage if started early and use of these drugs has been a major advance for treating scleroderma.
  • Muscle pain and weakness can be treated with anti-inflammatory drugs such as prednisone, intravenous immunoglobin (IVIg), and/or immunosuppressive medications. Physical therapy may be useful to maintain joint and skin flexibility.2

 

What Is Scleroderma In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Forbes A, Marie I. Gastrointestinal complications: the most frequent internal complications of systemic sclerosis. Rheumatology (Oxford). 2009 Jun;48 Suppl 3:iii36-9. doi: 10.1093/rheumatology/ ken485. [↩]
  2. http://www.rheumatology.org [↩]