Heritable and Autoimmune Disorders

By Morgan Oakley

Stickler Syndrome

SIGNS & SYMPTOMS
  • Signs: Flattened facial appearence. cleft palates may also appear depending on the type (I-V).
  • Symptoms: A common symptom is nearsightedness (high myopia). Increase pressure in the eye (glaucoma) is also a symptom, and can be found with closer inspection. Another feature of the syndrome is hearing loss, and the degree also varies from individuals. Most have skeletal abnormalities that can either be visible, or found after looking closer.

PATHOGENESIS

    • What caused it?: Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes, which are involved in the production of 3 types of collagen, that provide structure and strength to connective tissue. There are types I through V.

    MANAGEMENT

    • Is there a cure?: there is no known prevention or cure for this syndrome, but it can be managed through surgeries such as correction of sight with glasses, standard treatment of retinal detachment and hearing loss. Also continual surveillance can prevent the disease from becoming life threatening, and can help the patient be more comfortable.

    PROGNOSIS

    • What course will the disease follow?: There is no set course the disease follows, it may worsen, as time passes, or it may stay with the signs and symptoms manifested at birth, that can only be improved with surgeries and other helps/therapys.

    EPIDEMIOLOGY

    • Who does this disease affect?: About 1 in 7,500-9,000 newborns

    Rheumatoid Arthritis (RA)

    SIGNS & SYMPTOMS
    • Signs: warm, swollen, reddish joints. Inflammation in joints such as the wrist or hand are also common.
    • Symptoms: The severity of the disease varies from person to person, and can change from day to day. Main symptoms are pain, fatigue, and joint stiffness for long periods in the morning are common.

    PATHOGENESIS

    • What caused it?: When your bodys immune system mistakenly attacks your joints

    MANAGEMENT

    • Is there a cure?: There is no cure for RA, but there are many ways to ease the symptoms such as the inflammation and it can slow the progression of the disease. There are medications that can be taken that may change with the person, and the person is monitored by the doctor. Staying physically fit can also help in keeping the joints flexible.

    PROGNOSIS

    • What course will the disease follow?: The disease will most likely worsen as time progresses, but as stated above, the symptoms can be eased.

    EPIDEMIOLOGY

    • Who does this disease affect?: estimated 1.5 million people in the US have RA. It is more common in women than in men by 3x, and it starts between the ages of 30-60.