Genetics, RA & Connective Tissue Diseases

Genetics, RA & Connective Tissue Diseases

by Ginny Bayes

Multiple Choice

A patient is undergoing diagnostic testing for symptoms of polyarthralgia, fatigue, and hair loss. Laboratory results include the presence of anti-DNA, antinuclear antibodies, anti-Smith antibodies and anti-double stranded DNA antibodies in the blood. The nurse recognizes that these findings are most likely to be related to which diagnosis?

• Systemic sclerosis (scleroderma)

• Rheumatoid arthritis

• Sjogren's syndrome

• Systemic lupus erythematosus

​Rationale

​No specific test is diagnostic for SLE, a variety of abnormalities may be present in the blood. SLE is marked by the presence of antinuclear antibodies (ANA) in 97% of persons with the disease. Anti-Smith (Sm) antibodies are found in 30% - 40% of persons with SLE and are almost always considered diagnostic. Anti-double stranded DNA antibodies (anti-dsDNA) are also very diagnostic (up to 98%) for SLE and are highly associated with lupus nephritis.

Multiple Select

A 58 year old female is experiencing a flare-up with rheumatoid arthritis. While assisting the patient with her morning routine, the patient verbalizes a pain rating of 7 on a 1-10 scale in the right and left wrist along with severe stiffness. You note the wrist joints to be red, warm, and swollen. What nonpharmalogical nursing interventions can you provide to this patient to help alleviate pain and stiffness? Select all that apply:

• Encourage the patient to perform active ROM exercises

• Assist the patient with a warm shower or bath

• Perform deep massage therapy to the wrist joints

• Assist the patient with applying wrist splints

• Apply an ice pack to affected areas for 10-15 minute intervals

​Rationale

​During flare-ups of RA the joint should be rested (not exercised) and should not be deep massaged because this can further damage the joint (in addition cause the patient more pain). Heat therapy, like a warm shower or bath, will help alleviate the stiffness. Furthermore, cold therapy can be used to reduce the inflammation along with splinting the affected joints to protect and rest them.

Multiple Select

Disease-modifying antirheumatic drugs (DMARDS) are commonly used to treat rheumatoid arthritis. Select all the medications below that are DMARDS:

• Dexamethasone (Decadron)

• Hydroxychloroquine (Plaquenil)

• Diclofenac (Voltaren)

• Methotrexate (Trexall)

• Adalimumab (Humira)

​Rationale

​The correct answers are DMARDs that can be prescribed for rheumatoid arthritis (RA). Dexamethasone (Decadron) is a corticosteroid, not a DMARD. Diclofenac (Voltaren) is an NSAID that is commonly prescribed for osteoporosis.

Multiple Choice

X-linked recessive disorders are caused by a mutation on the X chromosome and usually only affect men.

• True

• False

​Rationale

​True, X-linked recessive disorders are caused by a mutation on the X chromosome and usually only affect men because women have another X chromosome to balance out the genetic abnormality (both copies of the gene must have the mutation in order to affect a female, men only have one X and women have two). Women tend to only be carriers of X-linked recessive disorders and are much more likely to pass the disorder on to their sons versus their daughters.

Multiple Choice

Chronic Myeloid Leukemia (CML) has a strong genetic component due to the phenomenon of chromosomal translocation. What is the name of the chromosomal abnormality linked to CML?

• Pennsylvania chromosome

• Philadelphia chromosome

• Berkley chromosome

• Rochester chromosome

​Rationale

​The Philadelphia chromosome abnormality that causes the strong genetic link to CML involves chromosomal translocation of chromosomes 9 and 22.

Multiple Choice

Which medication would the nurse expect to see when reviewing the medication reconciliation of a patient with localized scleroderma?

• nifedipine (Procardia)

• cyclophosphamide (Cytoxan)

• mycophenolate mofetil (CellCept)

• infliximab (Remicade)

​Rationale

​Raynaud's phenomenon, the most common first complaint in localized scleroderma, results in sudden vasospasm of the digits. Raynaud's has 3 phases (white, blue and red) and often results in numbness and tingling. This condition is most commonly treated with calcium channel blockers and the angiotensin II blocker losartan. Reserpine, an alpha-adrenergic blocking agent, increases blood flow to the fingers and is another treatment option for Raynaud's syndrome.

Multiple Select

A patient with Systemic Lupus Erythematosus is experiencing a complication called Lupus Nephritis. What are some signs and symptoms that correlate with this complication of SLE? Select all that apply.

• Decreased creatinine

• Decreased eGFR

• Weight loss

• Edema in the extremities

• Urine output of 0.4 ml/kg/hr

​Rationale

​Lupus nephritis is a serious complication of SLE. It is a condition that affects the functional units of the kidneys called the nephrons. In severe cases, renal failure develops which leads to an increased BUN & Creatinine, decreased eGFR, low urine output (less than 0.5 - 1 ml/kg/hr), proteinuria, hematuria, weight gain due to fluid accumulation, and swelling in the upper and lower extremities.

Multiple Choice

A 26-year-old female with Systemic Lupus Erythematosus has been hospitalized with a flare-up. The patient has now recovered and is about to be discharged. The patient expresses that she wants to have a baby soon. How long should the patient be advised to be in remission before trying to conceive a baby?

• 3 months

• 6 months

• 1 year

• 2 years

​Rationale

​The answer is 6 months. Women with lupus, who want to become pregnant, need to make sure their lupus has been in control (hence remission….no flare-ups) for at least 6 months before conceiving. This is because there is a risk of miscarriage and clotting issues. Pregnancy and the post-partum period can cause serious flare ups of SLE. Spontaneous abortions and stillbirths are common in patients with poorly controlled SLE.

Multiple Choice

A 50 year old female patient with Sjogren's syndrome reports to the nurse that she has been experiencing vaginal dryness and dyspareunia and it is adversely affecting her marriage. What is the best response by the nurse?

• "This is a normal sexual stumbling block for women your age, it probably is not caused by the Sjogren's."

• "You and your husband might have to explore other types of sexual activities."

• "Have you tried longer periods of foreplay in order to increase lubrication?"

• "A water soluble lubricant, such as Astroglide, should help ease the discomfort."

​Rationale

​Due to the drying nature of Sjogren's syndrome, vaginal dryness and dyspareunia (painful sexual intercourse) can be present in female patients with this disorder (women are 10x more likely than men to have this disorder). This can definitely be exacerbated or complicated by menopause but is not always the case depending on the patient's age (it is most common in women over 40). Increasing the length of foreplay may not be an effective intervention due to the autoantibodies attacking moisture-producing glands. The best response includes suggesting the use of a water soluble (not oil based - water soluble lubricant is safe for use with latex condoms and all types of sex toys) lubricant such as Astroglide or KY liquid.