Gigantism Acromegaly or Pachydermoperiostosis

By SWA

Acromegaly

  1. Definition and Symptoms:

    • Overgrowth of bones in the face, hands, and feet after adulthood.
    • Enlarged hands and feet, facial features, lips, nose, and tongue.
    • Coarse, oily, thickened skin; excessive sweating and body odor.
    • Fatigue, joint or muscle weakness, pain, and limited mobility.
      Acromegaly: https://www.ncbi.nlm.nih.gov/books/NBK538261/

  2. Diagnosis:

    • Confirmed by elevated growth hormone (GH) and insulin-like growth factor I (IGF-I) levels.
    • Magnetic resonance imaging (MRI) to detect pituitary tumors.

  3. Age of Onset:

    • Typically diagnosed in adults aged 30 to 50.

  4. Common Causes:

    • Often caused by a tumor on the pituitary gland leading to hypersecretion of GH.

  5. Diet Recommendations:

    • A caloric, very low-carbohydrate ketogenic diet (less than 50 grams/day).

Hypersecretion of Growth Hormone (GH)

  1. Symptoms:

    • Similar to acromegaly: enlarged hands and feet, facial features, and other symptoms as described above.

  2. Common Causes:

    • Typically due to a pituitary gland tumor.

  3. Affected Organs:

    • GH affects nearly all tissues, notably cartilage and bone.

Pachydermoperiostosis (PDP)

  1. Definition and Symptoms:

    • Rare hereditary disorder characterized by digital clubbing, joint problems, pachydermia.
    • Additional symptoms: hyperhidrosis, arthralgia, gastric ulcer, and others.

  2. Genetic Causes:

    • Mutations in the HPGD and SLCO2A1 genes.

  3. Pathogenesis:

    • High levels of prostaglandin E2 (PGE2) affecting bone tissue dynamics.

  4. Diagnostic Criteria:

    • Major criteria: pachyderma, periostosis, finger clubbing.
    • Minor criteria include hyperhidrosis, arthralgia, and other skin and joint issues.

  5. Other Names:

    • Also known as primary hypertrophic osteoarthropathy (HOA).

Differential Diagnosis

  1. Conditions Similar to Acromegaly:
    • Pachydermoperiostosis, pseudoacromegaly, Marfan's syndrome, McCune Albright syndrome, and others.

Research and Case Studies


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