Xanthomas (orange-yellowish, nodular to plaque-like fatty deposits in the skin) may occur together with hypercholesterolemia. Diseases that may be considered in the differential diagnosis of xanthomas:
Eyes and ocular appendages (H00-H59).
- Xanthelasmata – expression of a local lipid metabolic disorder.
Endocrine, nutritional, and metabolic diseases (E00-E90).
- Diabetes mellitus (diabetes).
- Hyperuricemia (increase in the level of uric acid in the blood).
Skin and subcutaneous (L00-L99)
- Sebaceous gland hyperplasia – non-physiological enlargement of a sebaceous gland.
Liver, gallbladder and bile ducts – pancreas (pancreas) (K70-K77; K80-K87).
- Primary biliary cholangitis (PBC, synonyms: nonpurulent destructive cholangitis; formerly primary biliary cirrhosis) – relatively rare autoimmune disease of the liver (affects women in about 90% of cases); begins primarily biliary, i.e., at the intrahepatic and extrahepatic (“inside and outside the liver“) bile ducts, which are destroyed by inflammation (= chronic nonpurulent destructive cholangitis). In the longer course, the inflammation spreads to the entire liver tissue and eventually leads to scarring and even cirrhosis; detection of antimitochondrial antibodies (AMA); PBC is frequently associated with autoimmune diseases (autoimmune thyroiditis, polymyositis, systemic lupus erythematosus (SLE), progressive systemic sclerosis, rheumatoid arthritis); associated with ulcerative colitis (inflammatory bowel disease) in 80% of cases; long-term risk of cholangiocellular carcinoma (bile duct carcinoma, bile duct cancer) is 7-15%.
Musculoskeletal system and connective tissue (M00-M99).
- Gout (arthritis urica/uric acid-related joint inflammation or tophic gout)/hyperuricemia (elevation of uric acid levels in the blood)
Neoplasms – tumor diseases (C00-D48).
- Leukemia (blood cancer)
- Lymphoma – neoplasms that originate from the lymph nodes.
- Plasmocytoma (synonyms: multiple myeloma; Kahler’s disease after Otto Kahler, Huppert’s disease) – malignant tumor disease from the group of non-Hodgkin’s lymphomas; it is a so-called monoclonal gammopathy with pathological production of immunoglobulins, which is characterized by malignant (malignant) proliferation of antibody-producing cells, plasma cells.
- Sebaceous gland carcinoma (cancer of the sebaceous glands).
- Torre-Muir syndrome (sebaceous gland tumors) – variant of hereditary non-polyposis colorectal carcinoma (Lynch syndrome), in which additional skin manifestations are observed.
Further
- Pseudoxanthoma elasticum (PXE), also known as Grönblad-Strandberg syndrome – autosomal dominant or recessive inherited disorder in which the elastic fibers of connective tissue are altered by the deposition of mineral salts (calcium).
Notice. See for other secondary hyperlipoproteinemias (= consequences of other underlying diseases) under Classification (under the topic of the same name).
