Osteoporosis: Or something else? Differential Diagnosis

Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).

  • Ehlers-Danlos syndrome – genetic disorder characterized primarily by hyperextensibility of the joints and typical skin changes.
  • Marfan syndrome – genetic disease, which can be inherited both autosomal dominant or occur sporadically (as a new mutation); systemic connective tissue disease, which is characterized mainly by tall stature, spider limbs and hyperextensibility of the joints; 75% of these patients have an aneurysm (pathological (pathological) bulge of the arterial wall).
  • Osteogenesis imperfecta (OI) – genetic diseases with autosomal dominant inheritance, more rarely autosomal recessive inheritance; 7 types of osteogenesis imperfecta are differentiated; the main feature of OI type I is altered collagen, which leads to abnormally high bone fragility (brittle bone disease)

Respiratory System (J00-J99)

Blood, blood-forming organs – immune system (D50-D90).

  • Amyloidosis – extracellular (“outside the cell”) deposits of amyloids (degradation-resistant proteins) that can lead to cardiomyopathy (heart muscle disease), neuropathy (peripheral nervous system disease), and hepatomegaly (liver enlargement), among other conditions.
  • Hemophilia (hemophilia).
  • Pernicious anemia – form of anemia due to a deficiency of vitamin B12.
  • Sarcoidosis (synonyms: Boeck’s disease; Schaumann-Besnier’s disease) – systemic disease of connective tissue with granuloma formation.
  • Thalassemia – autosomal recessive hereditary synthesis disorder of the alpha or beta chains of the protein portion (globin) in hemoglobin (hemoglobinopathy/diseases resulting from impaired formation of hemoglobin).
    • Α-Thalassemia (HbH disease, hydrops fetalis/generalized fluid accumulation); incidence: mostly in Southeast Asians.
    • Β-Thalassemia: most common monogenetic disorder worldwide; incidence: People from Mediterranean countries, Middle East, Afghanistan, India and Southeast Asia.

Endocrine, nutritional, and metabolic diseases (E00-E90).

  • Acromegaly – endocrinologic disorder caused by overproduction of growth hormone (somatotropic hormone (STH), somatotropin), with marked enlargement of the body end limbs or protruding parts of the body (acras), such as the hands, feet, lower jaw, chin, nose, and eyebrow ridges.
  • Cushing’s syndrome (Cushing’s disease) – renal cortical hyperfunction with elevated cortisol levels.
  • Diabetes mellitus (diabetes)
  • Hemochromatosis (iron storage disease) – genetic disease with autosomal recessive inheritance with increased deposition of iron as a result of increased iron concentration in the blood with tissue damage.
  • Hypercortisolism (excess of cortisol).
  • Hyperthyroidism (hyperthyroidism)
  • Hyperparathyroidism (parathyroid hyperfunction: primary hyperparathyroidism (pHPT) – resulting in elevated parathyroid hormone levels (intact parathyroid hormone, iPTH) and hypercalcemia (excess calcium); typically, calcium excretion in the urine is increased and serum phopshate levels – at least borderline – are decreased
  • Hypogonadism in women and men – gonadal hypofunction (eg, in women: Turner syndrome; eg, in men: Klinefelter syndrome).
  • Hypophosphatemia (phosphate deficiency).
  • Osteodystrophia fibrosa generalisata – bone dystrophy due to reduced storage of mineral salts.
  • Porphyria or acute intermittent porphyria (AIP); genetic disease with autosomal dominant inheritance; patients with this disease have a 50 percent reduction in the activity of the enzyme porphobilinogen deaminase (PBG-D), which is sufficient for porphyrin synthesis. Triggers of a porphyria attack, which can last a few days but also months, are infections, drugs or alcohol. The clinical picture of these attacks presents as acute abdomen or neurological deficits, which can take a lethal course. The leading symptoms of acute porphyria are intermittent neurologic and psychiatric disturbances. Autonomic neuropathy is often in the foreground, causing abdominal colic (acute abdomen), nausea (nausea), vomiting or constipation (constipation), as well as tachycardia (heartbeat too fast: > 100 beats per minute) and labile hypertension (high blood pressure).
  • Primary hyperparathyroidism (parathyroid hyperfunction) – hallmarks of primary hyperparathyroidism include elevated parathyroid hormone levels and elevated serum calcium
  • Vitamin D deficiency
  • Vitamin D metabolic disorder

Mouth, esophagus (food pipe), stomach and intestine (K00-K67; K90-K93).

Musculoskeletal system and connective tissue (M00-M99).

  • Bekhterev’s disease (synonym: ankylosing spondylitis) – chronic inflammatory disease of the spine that can lead to joint stiffness (ankylosis) of the affected joints.
  • Paget’s disease (synonyms: osteodystrophia deformans; Paget’s syndrome, Paget’s disease, Paget’s disease) – disease of the skeletal system in which there is a gradual thickening of several bones, usually the spine, pelvis, extremities or skull.
  • Osteomalacia (softening of bones) → atraumatic fractures (bone fractures that occur during normal stress without any apparent traumatic cause): mainly as pelvic fractures (anterior and posterior pelvic ring fractures).
  • Rheumatoid arthritis (synonym: chronic polyarthritis) – most common inflammatory disease of the joints.
  • Scoliosis

Neoplasms – tumor diseases (C00-D48)

  • Diffuse skeletal metastases (daughter tumors) – mammary carcinoma (breast cancer), prostate carcinoma, bronchial carcinoma (lung cancer), renal cell carcinoma, thyroid carcinoma, Pancreatic carcinoma (cancer of the pancreas), colorectal carcinoma (cancer of the colon), gastric carcinoma, hepatocellular carcinoma, ovarian carcinoma (cancer of the ovary) [listing in decreasing frequency].
  • Mastocytosis – two main forms: cutaneous mastocytosis (skin mastocytosis) and systemic mastocytosis (whole body mastocytosis); clinical presentation of cutaneous mastocytosis: Yellowish-brown spots of varying size (urticaria pigmentosa); in systemic mastocytosis, there are also episodic gastrointestinal complaints (gastrointestinal complaints), (nausea (nausea), burning abdominal pain and diarrhea (diarrhea)), ulcer disease, and gastrointestinal bleeding (gastrointestinal bleeding) and malabsorption (disorder of food absorption); In systemic mastocytosis, there is an accumulation of mast cells (cell type that is involved in, among other things, allergic reactions). Among other things, involved in allergic reactions) in the bone marrow, where they are formed, as well as accumulation in the skin, bones, liver, spleen and gastrointestinal tract (GIT; gastrointestinal tract); mastocytosis is not curable; course usually benign (benign) and life expectancy normal; extremely rare degeneration mast cells (= mast cell leukemia (blood cancer)).
  • Myelo- and lymphoproliferative disorders, unspecified.
  • Plasmocytoma (multiple myeloma) – malignant systemic disease caused by excessive proliferation of plasma cells.

Psyche – nervous system (F00-F99; G00-G99).

  • Anorexia nervosa (anorexia nervosa)
  • Multiple sclerosis (MS)

Genitourinary system (kidneys, urinary tract – reproductive organs) (N00-N99).

Further

  • Immobilization

Medication

  • See “Causes” under medications