You are currently viewing Ascher’s Syndrome :‎ Medical Notes & Mindmap

Ascher’s Syndrome is a rare disease that causes the pancreas to get inflamed over and over again. The exact cause of the condition is unknown, but it is thought to be caused by an abnormal immune response in the pancreas.

Ascher’s Syndrome is marked by pain in the abdomen, fever, and high levels of white blood cells and enzymes in the blood.

Ascher’s Syndrome doesn’t have a specific treatment, but painkillers and anti-inflammatory drugs can help with the symptoms. In some cases, the inflamed part of the pancreas may need to be taken out by surgery.

Ascher's Syndrome :‎ [MEDNOTES+MINDMAP]

  • Definition :

    • A rare genetic disorder characterized by the formation of cysts in the pancreas, leading to pancreatic dysfunction and diabetes.
  • Epidemiology :

    • Prevalence is not well established, but it is considered a rare disorder.
    • The majority of cases have been reported in children and young adults.
    • There is no known racial or gender predilection.
  • Natural history :

    • The disorder is progressive, with worsening of symptoms over time.
    • The cysts can grow and lead to obstruction of the pancreatic ducts, resulting in pancreatitis and diabetes.
    • Chronic pancreatitis can also lead to malnutrition, weight loss, and diabetes.
    • It can also cause a decreased production of insulin and digestive enzymes, leading to malabsorption.
    • In some cases, the cysts can become infected, leading to sepsis.
  • Types/Stages :

    • Type 1: Characterized by diffuse cystic dilatation of the pancreas with minimal fibrosis.
    • Type 2: Characterized by cysts in the ductal system with fibrosis and atrophy of the acinar tissue.
    • Type 3: Characterized by multiple cysts in the pancreas with fibrosis and atrophy of the acinar tissue.
    • Stage 1: Cysts are limited to the pancreas.
    • Stage 2: Cysts have spread to the surrounding organs.
    • Stage 3: Cysts have spread to distant organs.
  • Risk Factors :

    • Family history of the condition
    • Genetics
    • Age (usually diagnosed in middle-aged or elderly individuals)
    • Gender (more common in women)
    • Autoimmune disorders (such as rheumatoid arthritis)
    • Exposure to certain chemicals or toxins
  • Etiology/Causes :

    • Unknown exact cause, but believed to be related to a combination of genetic and environmental factors
    • May be caused by a mutation in the COL11A1 gene, leading to abnormal collagen production
    • May also be caused by an autoimmune disorder attacking and damaging the temporomandibular joint
  • Signs :

    • Limited jaw movement and stiffness
    • Pain and tenderness in the jaw joint and surrounding muscles
    • Clicking or popping sound in the jaw joint when opening or closing the mouth
    • Deviation or displacement of the jaw when opening or closing the mouth
    • Tinnitus (ringing in the ears)
    • Vertigo (dizziness)
  • Symptoms :

    • Pain and discomfort in the jaw and face
    • Limited ability to open and close the mouth
    • Difficulty speaking or eating
    • Headaches and migraines
    • Fatigue
    • Depression and anxiety related to the impact on daily activities
  • Pathology/Pathogenesis :

    • Inflammation and degeneration of the temporomandibular joint
    • Abnormal collagen production leading to joint instability
    • Damage to the cartilage and ligaments in the jaw joint
    • Narrowing of the joint space between the skull and jawbone
    • Progressive loss of function in the jaw joint over time.
  • Diagnosis:

    • Symptoms include chronic hoarseness, difficulty swallowing, and coughing
    • Endoscopic examination of the larynx and pharynx to check for the presence of a mass or nodule
    • Biopsy of the mass or nodule to confirm the diagnosis
    • Imaging tests such as CT or MRI to check for any spread of the tumor to other parts of the body
  • Tests Required :

    • Endoscopic examination
    • Biopsy
    • Imaging tests (CT or MRI)
  • Associated with :

    • Long-term smoking and heavy alcohol consumption
    • Exposure to certain chemicals and pollutants
    • HPV (Human Papillomavirus) infection
    • Family history of laryngeal cancer
  • Similar diseases/syndromes :

    • Laryngeal cancer
    • Papillomatosis
    • Reinke’s edema
  • Treatment :

    • Surgery to remove the tumor, often involving partial or total removal of the larynx
    • Radiation therapy
    • Chemotherapy
    • Speech therapy and rehabilitation to help with speech and swallowing difficulties post-treatment.

Dr. Arin Nandi

Passionate About Medical Science & Helping Future Doctors Achieve Top Ranks In Medical Exams. He is professionally a dentist as well as a public health expert from JIPMER working in govt.health department
Author