Endocrinology · PANCE / PANRE

Hyperthyroidism (Graves Disease)

Autoimmune diffuse goiter driven by TSH-receptor stimulating antibodies; most common cause of overt hyperthyroidism.

Also known as: Graves disease, hyperthyroidism, thyrotoxicosis, TSI, diffuse toxic goiter

Overview

Autoimmune hyperthyroidism caused by stimulating antibodies (thyroid-stimulating immunoglobulins, TSI; also called TRAb) that bind and activate the TSH receptor, producing diffuse goiter, sustained thyroid hormone excess, and characteristic extrathyroidal manifestations (orbitopathy, dermopathy).

Epidemiology

Most common cause of hyperthyroidism in the United States. Female-to-male ratio ~5-10:1. Peak onset 30-50 years. Strong familial clustering and association with other autoimmune disease (T1DM, celiac, vitiligo, pernicious anemia, Addison disease).

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Risk factors

  • Female sex, age 30-50, family history of autoimmune thyroid disease
  • Smoking (strong risk factor for orbitopathy progression)
  • Iodine excess (amiodarone, iodinated contrast, kelp)
  • Postpartum state (1-12 months after delivery)
  • Stress, recent infection, high-dose biotin (assay interference)
  • Immune-checkpoint inhibitors and alemtuzumab

Pathophysiology

Loss of self-tolerance produces IgG antibodies (TRAb/TSI) that bind the TSH receptor and continuously stimulate follicular cells, driving hormone synthesis and gland hyperplasia. The same receptor (or shared antigens) on retro-orbital fibroblasts and pretibial fibroblasts produces orbitopathy and dermopathy. Excess T3/T4 increases beta-adrenergic receptor density and metabolic rate, explaining most clinical features.

Clinical presentation

Symptoms

  • Heat intolerance, sweating, palpitations, tremor, anxiety, insomnia
  • Unintentional weight loss despite increased appetite
  • Frequent loose stools, oligomenorrhea, proximal muscle weakness
  • Gritty, bulging eyes; diplopia; eyelid retraction (Graves orbitopathy)
  • Atrial fibrillation, especially in older adults (may be presenting feature)

Signs / physical exam

  • Diffuse, smooth, nontender goiter ± thyroid bruit
  • Warm moist skin, fine tremor of outstretched hands, brisk reflexes
  • Lid lag (von Graefe sign), stare, exophthalmos, periorbital edema, chemosis
  • Pretibial myxedema (raised, non-pitting, peau d'orange plaques over shins)
  • Thyroid acropachy (clubbing) — rare

Classic findings

Young woman with weight loss, palpitations, anxiety, diffuse goiter with bruit, and proptosis = Graves disease.

Differential diagnosis

  • Toxic multinodular goiter (Plummer disease) — Older patient, long-standing nontoxic goiter, heterogeneous uptake on RAIU with hot/cold areas; no orbitopathy
  • Toxic adenoma — Single autonomously functioning nodule; focal hot spot on RAIU with suppression of surrounding tissue
  • Subacute (de Quervain) thyroiditis — Painful tender thyroid after viral illness, elevated ESR, LOW RAIU; self-limited, transient hyperthyroid then hypothyroid phase
  • Painless / postpartum thyroiditis — Painless gland, transient thyrotoxicosis, LOW RAIU; often resolves spontaneously
  • Factitious thyrotoxicosis — Exogenous hormone ingestion; LOW thyroglobulin distinguishes from thyroiditis
  • Struma ovarii — Ovarian teratoma producing thyroid hormone; pelvic uptake on whole-body scan
  • TSH-secreting pituitary adenoma — Inappropriately normal/elevated TSH with elevated free T4/T3; pituitary mass on MRI; elevated alpha subunit
  • Amiodarone-induced thyrotoxicosis — Type 1: iodine-driven excess synthesis (preexisting nodular disease); Type 2: destructive thyroiditis. Color Doppler discriminates

Diagnostic workup

Diagnostic criteria

Suppressed TSH + elevated free T4 and/or T3 + positive TRAb, or diffuse uptake on RAIU scan. Orbitopathy or pretibial myxedema with biochemical thyrotoxicosis is sufficient even without antibody confirmation.

Labs

  • TSH (suppressed, <0.01 in overt disease) — most sensitive initial test
  • Free T4 and total T3 (elevated; T3-predominant toxicosis common in Graves)
  • TRAb (TSI) — highly specific; positive supports Graves and predicts orbitopathy/relapse
  • CBC (mild leukopenia and anemia common), LFTs (mild AST/ALT elevation baseline)
  • Pregnancy test in reproductive-age women (alters treatment choice)

Imaging

  • Radioactive iodine uptake and scan (RAIU/scan) — diffuse, homogeneous, ELEVATED uptake confirms Graves; differentiates from low-uptake thyroiditis and factitious
  • Thyroid ultrasound with color Doppler — hypervascular (thyroid inferno) in Graves; useful when RAIU contraindicated (pregnancy, lactation, recent iodine)
  • Orbital CT/MRI without contrast if moderate-to-severe orbitopathy (extraocular muscle enlargement sparing the tendons)

Diagnostic algorithm

CauseRAIUThyroglobulinTRAb / TSIKey feature
Graves diseaseElevated, diffuseElevatedPositiveOrbitopathy, bruit, diffuse goiter
Toxic multinodular goiterPatchy, heterogeneousElevatedNegativeOlder, nodular gland
Toxic adenomaFocal hot, rest suppressedElevatedNegativeSingle autonomous nodule
Subacute thyroiditisLowElevatedNegativePainful, post-viral, elevated ESR
Painless/postpartum thyroiditisLowElevatedNegativePainless, transient, postpartum
Factitious thyrotoxicosisLowLOWNegativeExogenous T4 ingestion
Differentiating causes of thyrotoxicosis by RAIU, thyroglobulin, and TRAb.

Treatment

First-line

  • Beta-blocker for adrenergic symptoms — propranolol 20-40 mg q6h (also blocks peripheral T4→T3 conversion at high dose) or atenolol/metoprolol; use cautiously in HF
  • Thionamide — methimazole 10-40 mg daily (first-line in non-pregnancy; longer half-life; less hepatotoxicity); propylthiouracil (PTU) preferred in 1st trimester pregnancy and thyroid storm; carbimazole (UK/EU)
  • Counsel on agranulocytosis (any sore throat or fever → stop drug and check CBC) and hepatotoxicity

Complications

  • Thyroid storm (life-threatening decompensation)
  • Atrial fibrillation, high-output heart failure, dilated cardiomyopathy
  • Osteoporosis and fracture (especially postmenopausal women)
  • Severe orbitopathy with vision loss
  • Thyrotoxic periodic paralysis (Asian male predominance)
  • Agranulocytosis or hepatotoxicity from thionamides; transient or permanent hypoparathyroidism after surgery

PANCE pearls

  • TRAb (TSI) is the most specific antibody for Graves disease and helps predict relapse after thionamide withdrawal.
  • PTU is preferred only in the FIRST trimester of pregnancy and in thyroid storm; methimazole is first-line otherwise because of better hepatic safety.
  • Avoid radioactive iodine in moderate-to-severe active orbitopathy — it can precipitate flare. Use thyroidectomy or thionamides instead.
  • Always check beta-hCG before RAI ablation in reproductive-age women.
  • Thyrotoxic periodic paralysis: sudden hypokalemic paralysis in an Asian man with new hyperthyroidism — treat with potassium and beta-blocker, then definitive thyroid therapy.

References

  • ATA 2016 — 2016 American Thyroid Association Guidelines for Diagnosis and Management of Hyperthyroidism and Other Causes of Thyrotoxicosis (Ross et al., Thyroid 2016)
  • ATA/AACE Pregnancy 2017 — 2017 Guidelines of the ATA for Diagnosis and Management of Thyroid Disease During Pregnancy and the Postpartum (Alexander et al., Thyroid 2017)
  • EUGOGO 2021 — The 2021 European Group on Graves' Orbitopathy (EUGOGO) Clinical Practice Guidelines (Bartalena et al., Eur Thyroid J 2021)

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