Uric acid associated diseases, grouped by elevated levels (hyperuricemia) and low levels (hypouricemia):
⬆️ Diseases Associated with High Uric Acid (Hyperuricemia)
1. Gout
- The most well-known uric acid–related condition.
- Caused by monosodium urate crystal deposition in joints.
- Leads to acute joint inflammation, pain, swelling, and redness—commonly in the big toe.
2. Kidney Stones (Uric Acid Nephrolithiasis)
- Excess uric acid can form crystals in the urinary tract, leading to kidney stones.
- Stones can cause severe flank pain, hematuria, and urinary obstruction.
3. Chronic Kidney Disease (CKD)
- Hyperuricemia can contribute to renal vascular damage and tubulointerstitial injury.
- It can also result from CKD due to reduced uric acid excretion.
4. Hypertension
- High uric acid may impair endothelial function and increase vascular resistance.
- Often seen in essential hypertension, especially in younger patients.
5. Cardiovascular Disease
- Hyperuricemia is associated with increased risk of:
- Atherosclerosis
- Coronary artery disease
- Heart failure
- May contribute via inflammation, oxidative stress, and endothelial dysfunction.
6. Metabolic Syndrome / Type 2 Diabetes
- Elevated uric acid is linked with:
- Insulin resistance
- Obesity
- Dyslipidemia
- Often considered a marker and potential contributor to metabolic syndrome.
7. Tumor Lysis Syndrome (TLS)
- Seen in cancer patients receiving chemotherapy.
- Massive cell breakdown releases purines → sharp rise in uric acid.
- Can cause acute kidney injury if not managed.
⬇️ Diseases Associated with Low Uric Acid (Hypouricemia)
1. Fanconi Syndrome
- A disorder of the proximal renal tubules.
- Leads to loss of uric acid in the urine, along with other solutes (glucose, amino acids, phosphate).
2. Xanthinuria
- A rare genetic disorder due to xanthine oxidase deficiency.
- Prevents uric acid production; instead, xanthine accumulates and may form stones.
3. Syndromes with SIADH (Syndrome of Inappropriate Antidiuretic Hormone Secretion)
- Often causes dilutional hypouricemia due to water retention and altered renal urate handling.
4. Wilson’s Disease
- A rare genetic disorder of copper metabolism.
- Hypouricemia can occur due to tubular dysfunction in the kidneys.
5. Overtreatment of Hyperuricemia
- Excessive use of uric acid–lowering drugs (like allopurinol, febuxostat) can result in abnormally low levels of uric acid, though usually without serious symptoms.
Summary Table
| Uric Acid Level | Associated Diseases |
| 🔺 High | Gout, kidney stones, CKD, hypertension, heart disease |
| 🔻 Low | Fanconi syndrome, xanthinuria, SIADH, Wilson’s disease |