Human health and medicine

Hypertrichosis cubiti

Hypertrichosis cubiti (hairy elbows syndrome, MacDermot-Patton-Williams syndrome) is a rare congenital bilateral hypertrichosis of the elbow extensor surfaces, OMIM 139600, sometimes with short stature or Wiedemann-Steiner syndrome.

Hypertrichosis lanuginosa congenita

Hypertrichosis lanuginosa congenita (hypertrichosis universalis) is a rare autosomal dominant congenital disorder with 3-5 cm lanugo hair over the whole body except palms, soles, and mucosae, sometimes with dental, ocular, and other defects.

Hypertriglyceridemia

Hypertriglyceridemia (HTG): fasting triglycerides above 150 mg/dL. Classified mild to very severe; causes ASCVD risk and pancreatitis at ≥500–1000 mg/dL. Treated with lifestyle, fibrates, omega-3s, statins, and new APOC3 agents like olezarsen.

Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM), also called idiopathic hypertrophic subaortic stenosis, is a genetic heart disease with unexplained left ventricular thickening, prevalence about 1 in 500, first modern description by Teare in 1958, and treated with beta blockers, mavacamten, myectomy, and ICDs.

Hypertrophic cardiomyopathy screening

Hypertrophic cardiomyopathy screening detects the genetic thickened-heart disease (HCM, about 1 in 500 people) in athletes and relatives using history, physical, ECG, echo, MRI, and genetic testing; ECG raises sensitivity from 15-40% to 87-100%.

Hypertrophic chondrocyte

Hypertrophic chondrocyte: terminally differentiating growth plate cartilage cell, marked by type X collagen and Runx2, that enlarges about 20-fold, mineralizes matrix, and drives cartilage-to-bone conversion via Ihh-PTHrP, VEGF, and MMP signaling.

Hypertrophic lichen planus

Hypertrophic lichen planus (lichen planus verrucous, lichen planus hypertrophicus) is a chronic lichen planus variant with thickened, pruritic, wart-like plaques on the lower legs of adults 50-75, histologically marked by eosinophils and rete-ridge-tip infiltrates, distinguishable from squamous cell carcinoma.

Hypertrophic olivary degeneration

Hypertrophic olivary degeneration (HOD), trans-synaptic degeneration of the inferior olivary nucleus after lesions of the Guillain-Mollaret triangle; T2-hyperintense olive hypertrophy on MRI, palatal tremor, no enhancement or diffusion restriction.

Hypertrophic osteoarthropathy

Hypertrophic osteoarthropathy (HOA, pachydermoperiostosis in primary form, Bamberger-Marie syndrome) is a syndrome of digital clubbing, periostosis, and joint effusions; 95-97% of cases are secondary, most often to non-small cell lung cancer.

Hypertrophic scar

Hypertrophic scar: raised, fibroproliferative scar confined to the original wound, unlike keloids. Appears 1–2 months post-injury, regresses after 6 months; treated with intralesional triamcinolone, 5-FU, silicone, pressure, or laser therapy.

Hypertrophic surgical scar

Hypertrophic surgical scar (ICD-11 EL50.1): a raised, red scar confined to the surgical incision, occurring in 30-50% of surgical wounds, treated with triamcinolone injections, silicone, pressure, and laser.

Hypertrophied anal papillae

Hypertrophied anal papillae, also called fibrous anal polyps (ICD-11 DB71.2), are benign fibroepithelial growths at the anal dentate line, linked to chronic anal fissure in over 90% of cases and often mistaken for hemorrhoids or polyps.

Hypertrophy of adenoids

Hypertrophy of adenoids (adenoid hypertrophy, ICD-11 CA0F.1) is abnormal enlargement of the nasopharyngeal tonsils, a leading cause of childhood nasal obstruction, snoring, and otitis media, diagnosed by endoscopy and treated medically or by adenoidectomy.

Hypertrophy of bone

Hypertrophy of bone, also called hyperostosis (MeSH D015576, SNOMED 203514008), is an increase in bone mass per unit volume; classified as ICD-10 M89.3 and ICD-11 FB86.11, spanning adaptive loading response and high bone mass disorders.

Hypertrophy of infrapatellar fat pad

Hypertrophy of infrapatellar fat pad (Hoffa's fat pad, ICD-11 FB56.3, ICD-10 M79.4) is enlargement of the knee's infrapatellar fat pad causing impingement and anterior knee pain; diagnosed by MRI, treated conservatively first, surgically if needed.

Hypertrophy of nasal turbinates

Hypertrophy of nasal turbinates (turbinate hypertrophy, ICD-10 J34.3, ICD-11 CA0E) is enlargement of the nasal turbinates, usually the inferior, from allergic or vasomotor rhinitis, causing nasal obstruction; treated with steroids and saline first, surgery if refractory.

Hypertrophy of salivary gland

Hypertrophy of salivary gland (salivary gland enlargement, hyperplasia; ICD-11 DA04.1, ICD-10 K11.1) is enlargement of salivary glands, chiefly the non-inflammatory sialadenosis with acinar hypertrophy, linked to diabetes, alcoholism, malnutrition, medications, and stones.

Hypertrophy of tonsils

Hypertrophy of tonsils (tonsillar hypertrophy, enlarged tonsils; ICD-11 CA0F.0) is persistent enlargement of the palatine tonsils, common in children ages 3–7, causing mouth breathing and snoring; about 8 of 10 children with OSA have enlarged tonsils, and tonsillectomy resolves OSA in 82%.

Hypertrophy of vulva

Hypertrophy of vulva (外陰肥大, ICD-11 GA13.2; ICD-10 N90.6) is enlargement or thickening of external female genital tissues, often idiopathic; includes labial and clitoral hypertrophy, treated by labiaplasty when symptomatic.

Hypertryptophanemia

Hypertryptophanemia, also called familial hypertryptophanemia (OMIM 600627), is a rare autosomal recessive inborn error of tryptophan metabolism caused by TDO2 deficiency, producing congenital hypertryptophanemia, hyperserotonemia, and tryptophanuria, usually without symptoms.

Hyperuricemia

Hyperuricemia is abnormally high blood uric acid (serum urate above 6.8 mg/dL), caused by overproduction or underexcretion of urate after humans lost uricase. It causes gout and kidney stones; treated with allopurinol, febuxostat, uricosurics, or uricases.

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome (hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome), also called HUPRAS, is an ultra-rare autosomal recessive mitochondrial disease caused by SARS2 mutations, presenting in infancy with renal failure, metabolic alkalosis, and pulmonary hypertension.

Hyperventilation

Hyperventilation (overbreathing) is ventilation exceeding metabolic needs, lowering PaCO2 and causing respiratory alkalosis; chronic symptomatic forms are called hyperventilation syndrome, linked to anxiety and asthma.

Hypervigilance

Hypervigilance: a heightened, continuous scanning of the environment for danger, a symptom rather than a diagnosis. Seen in PTSD, anxiety, trauma, and physical conditions; distinct from paranoia, managed with therapy, grounding, and mindfulness.

Hypervitaminosis

Hypervitaminosis: vitamin toxicity, chiefly of fat-soluble vitamins A and D, from excess supplements or retinoid drugs; includes hypervitaminosis A and hypervitaminosis D with hypercalcemia.

Hypervitaminosis A

Hypervitaminosis A, or vitamin A toxicity, is poisoning from excess preformed retinol, causing acute headache and raised intracranial pressure or chronic liver, bone, and hypercalcemia effects, mainly from supplement misuse.

Hypervolemia

Hypervolemia, or fluid overload, is excess body fluid or blood volume, caused by excess sodium, heart or kidney disease, cirrhosis, or pregnancy; treated with diuretics, salt and fluid restriction, and dialysis.

Hyperzincemia and hypercalprotectinemia

Hyperzincemia and hypercalprotectinemia (Hz/Hc, AICZC, PAMI syndrome) is a rare PSTPIP1 (E250K, E257K) autoinflammatory disorder with high blood zinc and calprotectin, cytopenia, hepatosplenomegaly, and skin and joint inflammation.

Hyphema

Hyphema is blood in the eye's anterior chamber, usually from blunt trauma; graded 0–IV (microhyphema to eight-ball), complicated by rebleeding, raised intraocular pressure, and corneal blood staining.