Plain-language guides to rare conditions, built only from published research. Every statement shows how strong the evidence is and links to its source.
EDS is a group of inherited conditions where the body's connective tissue, the material that gives skin, joints, and blood vessels their strength and stretch, is built differently. This can make joints very loose, skin stretchy or fragile, and in some forms can make blood vessels and organs prone to tearing.
Fabry disease is an inherited (X-linked) lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. The enzyme shortfall lets fatty material build up in cells throughout the body, progressively damaging the skin, kidneys, heart, nerves, and brain. (confirmed from PMID:33172708, curation 2026-06-11)
Gaucher disease is an inherited (autosomal recessive) lysosomal storage disorder caused by deficiency of the enzyme glucocerebrosidase. The enzyme shortfall lets a fatty substance (glucosylceramide) build up inside immune cells called macrophages, which collect in the spleen, liver, and bone marrow. (confirmed from PMID:28218669, curation 2026-06-11)
Giant cell arteritis (GCA), also called temporal arteritis, is an inflammatory disease of large and medium-sized arteries. It affects the cranial arteries as well as the aorta and its great-vessel branches, almost always in adults over 50. (confirmed from PMID:37021621, curation 2026-06-11)
Hereditary angioedema is a genetic condition that causes repeated episodes of swelling deep under the skin and in the body's internal linings. The swelling is usually driven by a natural body chemical called bradykinin, and attacks that affect the throat (laryngeal edema) can be life-threatening. (confirmed from PMID:42165046, curation 2026-06-11)
Huntington disease is an inherited (autosomal dominant) neurodegenerative brain disease that progressively affects movement, thinking, and behaviour, with onset usually in adulthood. It is caused by an expanded CAG repeat in the HTT gene. (confirmed from PMID:27188817, curation 2026-06-11)
Myasthenia gravis is an autoimmune disorder of the junction between nerve and muscle, marked by muscle weakness that fluctuates, getting worse and better at different times. (confirmed from PMID:41524776, curation 2026-06-11)
Takayasu arteritis is one of the main forms of large-vessel vasculitis: long-term inflammation of the large arteries, especially the aorta and its branches, that can narrow or block them. It mostly affects young women. (confirmed from PMID:39817309, curation 2026-06-10)
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